{"meta":{"query_hash":"e77c799741c3","filters":{"venue":"Orphanet Journal of Rare Diseases"},"cohort_total":328,"direct_labels_cover":0,"predictions_cover":328,"exported":328,"export_cap":100000,"truncated":false,"label_status":"direct model label, unvalidated","prediction_status":"machine_predicted_unvalidated (Codex and Gemma teacher distillation)","score_status":"score_only:v0-immature-baseline","snapshot":{"source":"OpenAlex, pinned release, all 482 partitions","release":"2026-06-24","frame_built":"2026-07-12"},"permalink":"https://metacan.xera.ac/q/e77c799741c3","api":"https://metacan.xera.ac/api/v1/cohort?venue=Orphanet+Journal+of+Rare+Diseases"},"results":[{"id":"W1536123358","doi":"10.1186/s13023-015-0279-9","title":"Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; McGill University","keywords":"Leukodystrophy; Exon; Genetics; Gene; Mutation; Biology; Human genetics; Phenotype; Compound heterozygosity; Medicine; Pathology; Disease","score_opus":0.013196655083879393,"score_gpt":0.26001304585152446,"score_spread":0.24681639076764506,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W1536123358","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9957058,0.0011204316,0.0011549203,0.00012750764,0.0000130548615,0.000017578934,0.00027187075,0.000113181595,0.0014757667],"genre_scores_gemma":[0.99764854,0.0005927156,0.00064959744,0.000110216126,0.000023124709,0.000012614866,0.00021755157,0.000029512881,0.0007161863],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99984825,0.000028690114,0.000020929712,0.000039846724,0.000032865755,0.000029377963],"domain_scores_gemma":[0.99970514,0.000113524635,0.00010376823,0.000021997954,0.0000104512255,0.000045022345],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00015220941,0.00069855317,0.00042902053,0.0004813165,0.00020495392,0.00018038145,0.0001944342,0.0007035003,0.0025639737],"category_scores_gemma":[0.00046767003,0.00022604284,0.00029684106,0.00034965688,0.0004375006,0.00013884065,0.00039527833,0.00037813705,0.0009665112],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0009898245,0.00013676124,0.038399104,0.00028945948,0.0001398055,0.24941574,0.0005115924,0.0007873302,0.68441343,0.000739787,0.0009019883,0.023275102],"study_design_scores_gemma":[0.0002552842,0.0005226445,0.21758184,0.00010757725,0.00027085558,0.6710835,0.00037222242,0.0008956683,0.098776735,0.00097132305,0.009119242,0.000043062366],"about_ca_topic_score_codex":0.0003543404,"about_ca_topic_score_gemma":0.00040512343,"teacher_disagreement_score":0.0025639737,"about_ca_system_score_codex":0.00014861158,"about_ca_system_score_gemma":0.0001497187,"threshold_uncertainty_score":0.008577406},"labels":[],"label_agreement":null},{"id":"W1537453399","doi":"10.1186/s13023-015-0321-y","title":"Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes","year":2015,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":47,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children","funders":"National Center for Advancing Translational Sciences; National Institute of Mental Health; U.S. Department of Health and Human Services; National Institutes of Health; European Commission; Harvey Mudd College; Strong","keywords":"Cystathionine beta synthase; Methionine; Heterozygote advantage; Homocystinuria; Compound heterozygosity; Methionine synthase; Homocysteine; Methionine Adenosyltransferase; Newborn screening; Biology; Allele; Genetics; Human genetics; Genotype; Protein subunit; Internal medicine; Biochemistry; Medicine; Gene; Amino acid","score_opus":0.18307629827877772,"score_gpt":0.4206303017293043,"score_spread":0.2375540034505266,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W1537453399","genre_codex":"empirical","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9930568,0.0051630577,0.00022154019,0.00011404924,0.000013500063,0.000011421724,0.0007519264,0.000015701591,0.00065205514],"genre_scores_gemma":[0.9959959,0.0024284474,0.0002436268,0.00009157438,0.000033727065,0.000013818637,0.0010782821,0.000008073148,0.00010654864],"study_design_codex":"observational","study_design_gemma":"not_applicable","domain_scores_codex":[0.9988959,0.00022416587,0.0003128781,0.0002473569,0.00022200454,0.00009770553],"domain_scores_gemma":[0.9964551,0.0015579776,0.0010117978,0.00019616655,0.00036875674,0.00041030667],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0012751009,0.00032955335,0.00061684486,0.0037982622,0.00034910743,0.00062632875,0.00029145257,0.00050446886,0.0013798112],"category_scores_gemma":[0.0035581347,0.00018564,0.0003608151,0.0026043034,0.00045630825,0.00065616425,0.000554506,0.00027579322,0.00040330985],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00029682813,0.000026661006,0.9865276,0.000060373113,0.000060699065,0.00062095263,0.00017338898,0.00002511075,0.00083410577,0.000019549652,0.0002216034,0.01113319],"study_design_scores_gemma":[0.000011729561,0.000373231,0.98884845,0.000046480633,0.0000743197,0.008325255,0.0004698252,0.000055865185,0.0003329549,0.000028066785,0.0014246607,0.0000091460615],"about_ca_topic_score_codex":0.00073766476,"about_ca_topic_score_gemma":0.00066728715,"teacher_disagreement_score":0.0037982622,"about_ca_system_score_codex":0.00015001667,"about_ca_system_score_gemma":0.00018844008,"threshold_uncertainty_score":0.0067434907},"labels":[],"label_agreement":null},{"id":"W1579184925","doi":"10.1186/s13023-015-0280-3","title":"Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":43,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Mount Sinai Hospital","funders":"School of Medicine, Emory University; Emory University; Sanofi","keywords":"Medicine; Splenectomy; Disease; Internal medicine; Severity of illness; Pediatrics; Gastroenterology; Surgery; Spleen","score_opus":0.06294162853451936,"score_gpt":0.346058995606271,"score_spread":0.28311736707175167,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W1579184925","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9990324,0.00017008636,0.00010683782,0.000016807971,0.000002263023,0.000040782594,0.00028666746,0.00000408325,0.00034016577],"genre_scores_gemma":[0.99880135,0.000057203044,0.0003628549,0.0000157048,0.0000051598345,0.00003642672,0.0005934051,0.0000012609904,0.00012673525],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9996908,0.000114461945,0.000053152387,0.000051077313,0.00005840716,0.00003220942],"domain_scores_gemma":[0.99874383,0.00015648796,0.0007479278,0.000040735606,0.00013611297,0.0001749653],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008435413,0.0002970964,0.00035343235,0.0004048229,0.00019280921,0.00023790868,0.00018142484,0.00019745916,0.00076586206],"category_scores_gemma":[0.0013610538,0.00009494323,0.00029748867,0.00038714844,0.00013333735,0.00024532972,0.00023781367,0.0002559991,0.00013924012],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010891092,0.0000995017,0.9926696,0.000019320622,0.000058391983,0.00004749499,0.0000612942,0.00016179118,0.0007036546,0.000010704636,0.00016002142,0.0049191904],"study_design_scores_gemma":[0.000065154294,0.0011084954,0.9976907,0.0000058082965,0.00002967197,0.0002880772,0.000032135507,0.00038888733,0.0002420868,0.000016326894,0.00012809964,0.0000046092277],"about_ca_topic_score_codex":0.001196114,"about_ca_topic_score_gemma":0.0023240412,"teacher_disagreement_score":0.001196114,"about_ca_system_score_codex":0.0003508247,"about_ca_system_score_gemma":0.00025310376,"threshold_uncertainty_score":0.0044611096},"labels":[],"label_agreement":null},{"id":"W1747355100","doi":"10.1186/s13023-015-0297-7","title":"A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Mount Sinai Hospital","funders":"Actelion Pharmaceuticals","keywords":"Saccharomyces boulardii; Tolerability; Pharmacokinetics; Placebo; Medicine; Randomized controlled trial; Pharmacology; Double blind; Adverse effect; Internal medicine; Alternative medicine; Biology","score_opus":0.03588486600923399,"score_gpt":0.32217941889546375,"score_spread":0.28629455288622974,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W1747355100","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9837257,0.003099308,0.0008101129,0.0006450623,0.0010167015,0.008330705,0.00083811424,0.0001694837,0.0013647925],"genre_scores_gemma":[0.9753184,0.0024287722,0.0031097801,0.0012439161,0.0007982845,0.0126067465,0.0009591288,0.000035309673,0.003499794],"study_design_codex":"randomized_trial","study_design_gemma":"randomized_trial","domain_scores_codex":[0.9987923,0.00060175615,0.00009831047,0.00026812596,0.00009252675,0.00014698454],"domain_scores_gemma":[0.9982711,0.0004883643,0.00034978715,0.0001637763,0.00016168572,0.0005653168],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0026293772,0.001878032,0.004604704,0.00066597015,0.0007214899,0.0009502156,0.0011963863,0.0031748838,0.007075722],"category_scores_gemma":[0.002940019,0.0010131593,0.0014271084,0.0004915595,0.002051908,0.0012296888,0.00058132573,0.00231879,0.0012028877],"study_design_candidate":"randomized_trial","study_design_consensus":"randomized_trial","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.984914,0.007859486,0.00013935406,0.00030881507,0.00021357565,0.000017762557,0.000021753407,0.00007380689,0.0026437566,0.000030842904,0.00018162806,0.003595229],"study_design_scores_gemma":[0.90938425,0.089221016,0.00060647115,0.00001114216,0.00013728015,0.000011522676,0.000007839092,0.00013171684,0.00026368612,0.000031951895,0.00018598855,0.00000726769],"about_ca_topic_score_codex":0.00095220626,"about_ca_topic_score_gemma":0.0013536059,"teacher_disagreement_score":0.007075722,"about_ca_system_score_codex":0.00068069674,"about_ca_system_score_gemma":0.0016112654,"threshold_uncertainty_score":0.023670673},"labels":[],"label_agreement":null},{"id":"W1769855803","doi":"10.1186/s13023-015-0345-3","title":"Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Complement system in diseases","field":"Immunology and Microbiology","cited_by":56,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation","funders":"Leonard M. Miller School of Medicine, University of Miami; National Institutes of Health; National Institute on Deafness and Other Communication Disorders; Leonard M. Miller School of Medicine; Ege Üniversitesi; Dr. John T. MacDonald Foundation; University of Miami","keywords":"Genetics; Missense mutation; Biology; Proband; Phenotype; Mutation; Gene","score_opus":0.031713384920620216,"score_gpt":0.26978143282115885,"score_spread":0.23806804790053865,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W1769855803","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9978338,0.000292144,0.00047206163,0.00008313036,0.000016778602,0.000017504117,0.00024719475,0.00007622071,0.0009610973],"genre_scores_gemma":[0.99847037,0.00010637532,0.0007183427,0.000052740474,0.000031112755,0.000014353522,0.0002537917,0.000021961378,0.00033102225],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.99969554,0.000027330774,0.000023114859,0.000080255646,0.00012891168,0.000044826418],"domain_scores_gemma":[0.999212,0.00024607216,0.00026486517,0.000032530395,0.00005387681,0.00019057974],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00018480993,0.0015928707,0.0004828909,0.0014023628,0.00051300303,0.00031833048,0.0005478486,0.0012108675,0.00391922],"category_scores_gemma":[0.00095633947,0.00022734576,0.00040623237,0.0007815322,0.00070504635,0.00017612908,0.00068364927,0.000639707,0.0005285149],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0011223777,0.00028216667,0.15388462,0.00031662523,0.00021246694,0.50657076,0.0018535692,0.0012539974,0.30524802,0.0009019478,0.0025016645,0.025851801],"study_design_scores_gemma":[0.0001497854,0.00037867398,0.29881528,0.00008853949,0.00018092086,0.6606407,0.00020150561,0.0016207598,0.03249073,0.00053720793,0.004827909,0.00006797148],"about_ca_topic_score_codex":0.0011240735,"about_ca_topic_score_gemma":0.0013370953,"teacher_disagreement_score":0.00391922,"about_ca_system_score_codex":0.00035175198,"about_ca_system_score_gemma":0.00022637263,"threshold_uncertainty_score":0.013111055},"labels":[],"label_agreement":null},{"id":"W1824729234","doi":"10.1186/1750-1172-1-29","title":"Walker-Warburg syndrome","year":2006,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":162,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Congenital muscular dystrophy; Lissencephaly; Muscular dystrophy; Hypotonia; Medicine; Dystroglycan; Pediatrics; Internal medicine; Pathology; Biology; Laminin; Genetics; Gene","score_opus":0.014658276895434317,"score_gpt":0.2859326313552358,"score_spread":0.27127435445980147,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W1824729234","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0038346397,0.9663544,0.0020470952,0.0012355534,0.00082222087,0.00004424292,0.0001803338,0.00017253548,0.025308913],"genre_scores_gemma":[0.045176383,0.92939264,0.0016630797,0.0017717935,0.0007663519,0.000065199565,0.0005902031,0.000024596804,0.020549783],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9998847,0.000018877541,0.000012874149,0.000026213544,0.00003062599,0.000026716287],"domain_scores_gemma":[0.9999263,0.00002014655,0.000017513263,0.0000032596477,0.000013154797,0.000019619534],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00013289803,0.0011807336,0.0011482512,0.0013966011,0.00033068826,0.0006159874,0.0005132975,0.001014917,0.008058614],"category_scores_gemma":[0.0003911809,0.000117471296,0.0002454743,0.0011110547,0.0003928961,0.0006368318,0.00053121743,0.000785191,0.00509207],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00010473902,0.000069375,0.0012369807,0.0038073664,0.00010412851,0.019908467,0.00011048097,0.0002562559,0.0037909914,0.003938323,0.06391563,0.9027572],"study_design_scores_gemma":[0.000069416164,0.000097570366,0.0034428623,0.0016882824,0.00010556052,0.16264871,0.00013031006,0.000121843805,0.0015730835,0.0033220546,0.82677346,0.000026900492],"about_ca_topic_score_codex":0.0007376721,"about_ca_topic_score_gemma":0.001237071,"teacher_disagreement_score":0.008058614,"about_ca_system_score_codex":0.0003642791,"about_ca_system_score_gemma":0.000514578,"threshold_uncertainty_score":0.026958704},"labels":[],"label_agreement":null},{"id":"W1851331577","doi":"10.1186/s13023-015-0314-x","title":"Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Child and Family Research Institute; Alberta Children's Hospital","funders":"National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Center for Advancing Translational Sciences; Alberta Innovates - Health Solutions; National Institutes of Health; Child and Family Research Institute","keywords":"Exome sequencing; Hypoventilation; Medicine; Obesity; Human genetics; Exome; Genetics; Biology; Bioinformatics; Internal medicine; Mutation; Respiratory system; Gene","score_opus":0.012252259939988469,"score_gpt":0.21207998069176662,"score_spread":0.19982772075177815,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W1851331577","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99814796,0.00021591617,0.00082012074,0.00003331441,0.000009445403,0.000018511906,0.00042519034,0.000007850627,0.0003217522],"genre_scores_gemma":[0.9960289,0.00032311116,0.0019562487,0.00006604187,0.000014574939,0.000025087282,0.0011718824,0.000025647209,0.00038846792],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9996395,0.00005054151,0.000042711556,0.00013401819,0.00008453704,0.000048766826],"domain_scores_gemma":[0.99946946,0.0001709239,0.00015016178,0.00007149004,0.00004334085,0.00009464464],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00038646848,0.00033135884,0.00035287617,0.0010717864,0.0005026447,0.00048372545,0.00022570431,0.00046365295,0.0013569548],"category_scores_gemma":[0.0010368432,0.0001897035,0.00049349654,0.00078784913,0.0003019264,0.00014703347,0.0005894312,0.00038103882,0.00023827735],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0025090773,0.0001740548,0.5734456,0.00024240663,0.0007904357,0.043530755,0.002488621,0.0006734873,0.34753764,0.0007808082,0.001174184,0.026652908],"study_design_scores_gemma":[0.000104842715,0.0003989104,0.8818403,0.000066842265,0.000474123,0.09039503,0.00070275925,0.0014874619,0.019503748,0.0005864389,0.0044001234,0.000039420953],"about_ca_topic_score_codex":0.0008539635,"about_ca_topic_score_gemma":0.0017639861,"teacher_disagreement_score":0.0013569548,"about_ca_system_score_codex":0.0001889543,"about_ca_system_score_gemma":0.00015464035,"threshold_uncertainty_score":0.0045394897},"labels":[],"label_agreement":null},{"id":"W1922213603","doi":"10.1186/s13023-015-0320-z","title":"The media and access issues: content analysis of Canadian newspaper coverage of health policy decisions","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":35,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of Alberta; Carleton University","funders":"Genome Alberta; Alberta Health; University of Alberta; Canadian Institutes of Health Research; Genome Canada; Canadian Donation and Transplantation Research Program","keywords":"Newspaper; Health care; Public relations; News media; Political science; Media coverage; Content analysis; Ethos; Medicine; Business; Advertising; Sociology; Media studies; Social science","score_opus":0.4332880134622505,"score_gpt":0.4548224673843611,"score_spread":0.02153445392211062,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W1922213603","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.94022566,0.004993648,0.00038703516,0.0029894256,0.00015240946,0.0007000619,0.019643016,0.00003711066,0.030871637],"genre_scores_gemma":[0.9788343,0.00670661,0.001428527,0.00063869765,0.00033764736,0.00063602993,0.008920316,0.000042253825,0.002455549],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9925538,0.0013583015,0.0007582134,0.00049598725,0.004081594,0.00075208617],"domain_scores_gemma":[0.8541195,0.08091795,0.026468458,0.0013880533,0.0344217,0.0026843245],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0068805506,0.00044065056,0.0005409497,0.031825148,0.0033428813,0.004485884,0.00089930714,0.0006626425,0.0033456853],"category_scores_gemma":[0.06777925,0.0003112039,0.00041389075,0.04676843,0.0019510894,0.0014491369,0.0014368274,0.00069192686,0.00023909092],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00097085146,0.00030703968,0.6199762,0.008905717,0.0004232798,0.00215113,0.18940398,0.00041072853,0.0024017498,0.0028614348,0.027631411,0.14455654],"study_design_scores_gemma":[0.000023262355,0.00004964496,0.91558456,0.0014116929,0.00022241456,0.00023215362,0.047022294,0.000548547,0.0004667412,0.0001693476,0.034211695,0.000057688707],"about_ca_topic_score_codex":0.6650082,"about_ca_topic_score_gemma":0.6454818,"teacher_disagreement_score":0.3349918,"about_ca_system_score_codex":0.025122795,"about_ca_system_score_gemma":0.023315096,"threshold_uncertainty_score":0.6739293},"labels":[],"label_agreement":null},{"id":"W1990442073","doi":"10.1186/1750-1172-7-22","title":"Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":33,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; University of British Columbia","funders":"lékařská fakulta Univerzity Karlovy; School of Medicine, New York University; Mackay Memorial Hospital; University of Toronto; Sanofi Genzyme; Università degli Studi di Padova; Hospital for Sick Children; York University; Univerzita Karlova v Praze","keywords":"Mucopolysaccharidosis type I; Mucopolysaccharidosis I; Enzyme replacement therapy; Phenotype; Medicine; Mucopolysaccharidosis; Genetic heterogeneity; Internal medicine; Genetics; Biology; Disease","score_opus":0.02918659602130732,"score_gpt":0.31986071064836713,"score_spread":0.29067411462705983,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W1990442073","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.6474118,0.002047347,0.25857413,0.003094385,0.0008642295,0.04097077,0.0017779957,0.00070631277,0.044553023],"genre_scores_gemma":[0.683598,0.0006210085,0.28875113,0.00036377402,0.000090571506,0.023772115,0.00096868514,0.00015094796,0.0016837977],"study_design_codex":"design_other","study_design_gemma":"observational","domain_scores_codex":[0.77350813,0.17943817,0.020030513,0.004755289,0.01927362,0.0029943103],"domain_scores_gemma":[0.63116485,0.233468,0.015704013,0.015650768,0.10029092,0.0037215112],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.21673861,0.0011773261,0.0017431297,0.009678651,0.0025554078,0.0022927958,0.002567863,0.0017500861,0.0033418522],"category_scores_gemma":[0.29643273,0.00061952707,0.003035195,0.0049676234,0.002558895,0.0019675265,0.0076231724,0.0017978238,0.00079707656],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0051598707,0.0015526569,0.10220946,0.009220619,0.0017992747,0.0017074168,0.20141691,0.010783378,0.011585484,0.017740365,0.015445972,0.6213786],"study_design_scores_gemma":[0.0028406954,0.010920125,0.3588939,0.010159179,0.00529819,0.0038732323,0.29581195,0.13602358,0.033479013,0.06131219,0.07962024,0.0017676563],"about_ca_topic_score_codex":0.0018265115,"about_ca_topic_score_gemma":0.0024938069,"teacher_disagreement_score":0.21673861,"about_ca_system_score_codex":0.0039788913,"about_ca_system_score_gemma":0.010443066,"threshold_uncertainty_score":0.9659007},"labels":[],"label_agreement":null},{"id":"W2013397769","doi":"10.1186/1750-1172-8-33","title":"Small cell ovarian carcinoma: genomic stability and responsiveness to therapeutics","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia; McGill University Health Centre; Queen's University; McGill University; BC Cancer Agency; Ottawa Hospital; University of Ottawa","funders":"Canadian Institutes of Health Research; Ovarian Cancer Canada; McGill University Health Centre; McGill University","keywords":"Biology; Karyotype; Cancer research; Ovarian cancer; SNP array; Loss of heterozygosity; Molecular biology; Genetics; Chromosome; Cancer; Single-nucleotide polymorphism; Allele; Gene; Genotype","score_opus":0.01807210563713881,"score_gpt":0.23983183170001798,"score_spread":0.22175972606287916,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2013397769","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99506795,0.0016667977,0.0007838045,0.000083842024,0.0000084878275,0.000029667754,0.0007185063,0.000040888663,0.0015999189],"genre_scores_gemma":[0.9983907,0.0002746345,0.0002016606,0.000025804236,0.000004642413,0.000017412547,0.00069617544,0.0000064438896,0.00038251746],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.9998592,0.000015829755,0.000015548914,0.000030424959,0.000058732396,0.00002028762],"domain_scores_gemma":[0.99951756,0.00012977565,0.00013091393,0.00006515494,0.00009418232,0.00006249465],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001749274,0.000095852105,0.0002110309,0.00041942517,0.0001729323,0.00042085195,0.00012414755,0.00019742864,0.002230041],"category_scores_gemma":[0.0006249344,0.00007276303,0.00013620208,0.0005008106,0.00018947119,0.0001701965,0.00018496683,0.00020480019,0.00022371992],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0011997765,0.000103661085,0.054696206,0.00014135966,0.00006060295,0.00054891256,0.00011048523,0.00063730683,0.91432637,0.00030576464,0.00028353816,0.027585968],"study_design_scores_gemma":[0.00008090882,0.0021520818,0.5269103,0.000015596066,0.00013923045,0.0065167192,0.0003498229,0.0025660286,0.45089927,0.0006032371,0.009743524,0.000023262108],"about_ca_topic_score_codex":0.0012150308,"about_ca_topic_score_gemma":0.00093910826,"teacher_disagreement_score":0.002230041,"about_ca_system_score_codex":0.00035672195,"about_ca_system_score_gemma":0.00023255774,"threshold_uncertainty_score":0.0074602365},"labels":[],"label_agreement":null},{"id":"W2029471292","doi":"10.1186/1750-1172-6-35","title":"Machado-Joseph Disease: from first descriptions to new perspectives","year":2011,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":186,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Fundação para a Ciência e a Tecnologia; Canadian Immunization Research Network; Universidade do Porto; International Business Machines Corporation","keywords":"Machado–Joseph disease; Spinocerebellar ataxia; Biology; Polyglutamine tract; Genetics; Haplotype; Trinucleotide repeat expansion; Mutation; Ataxia; Phenotype; Neuroscience; Allele; Gene; Mutant","score_opus":0.07765658472479973,"score_gpt":0.3143753930140255,"score_spread":0.23671880828922576,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2029471292","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.005462001,0.98243296,0.0011119334,0.004800367,0.0014960046,0.000014927507,0.00014624558,0.00006893214,0.0044667046],"genre_scores_gemma":[0.054385994,0.91526145,0.0026162278,0.0075517953,0.016034631,0.00005837545,0.00058559934,0.000085188556,0.0034207501],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9991334,0.00014081816,0.00017401428,0.00024443973,0.00015155897,0.00015582082],"domain_scores_gemma":[0.99762124,0.00094342267,0.0004201113,0.00019457881,0.000422877,0.00039769476],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0010519185,0.001329489,0.002130646,0.008575142,0.00082354737,0.0031908718,0.0018296872,0.0034196458,0.0036178262],"category_scores_gemma":[0.0037533268,0.0008222026,0.0007538972,0.004425629,0.0035720228,0.008659875,0.0024385776,0.0035882879,0.0022167969],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00041696502,0.00016467577,0.010565879,0.005916648,0.0002109013,0.09228859,0.003099246,0.00043460375,0.0026039237,0.027897585,0.08313534,0.77326554],"study_design_scores_gemma":[0.000078200224,0.00015453405,0.006762453,0.005456024,0.00018961699,0.36699605,0.0014518197,0.00027393983,0.00055847625,0.021246321,0.5966274,0.00020510716],"about_ca_topic_score_codex":0.0014350914,"about_ca_topic_score_gemma":0.0017885094,"teacher_disagreement_score":0.008575142,"about_ca_system_score_codex":0.0019111536,"about_ca_system_score_gemma":0.0010151888,"threshold_uncertainty_score":0.013866425},"labels":[],"label_agreement":null},{"id":"W2052445399","doi":"10.1186/1750-1172-3-19","title":"Abetalipoproteinemia: two case reports and literature review","year":2008,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Retinoids in leukemia and cellular processes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":213,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Western University","funders":"Ontario Genomics; Ontario Genomics Institute; Genome Canada; Heart and Stroke Foundation of Canada","keywords":"Hypocholesterolemia; Microsomal triglyceride transfer protein; Medicine; Myopathy; Internal medicine; ABL; Gastroenterology; Endocrinology; Cholesterol; Lipoprotein","score_opus":0.010250789981624367,"score_gpt":0.288899135000984,"score_spread":0.27864834501935964,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2052445399","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.009040232,0.973723,0.0031125613,0.001984236,0.0020485944,0.000097317876,0.00019933058,0.00017927121,0.009615447],"genre_scores_gemma":[0.036511138,0.9465908,0.003980615,0.0021946756,0.004137873,0.00009519771,0.00044933386,0.000035055567,0.0060052075],"study_design_codex":"design_other","study_design_gemma":"case_report","domain_scores_codex":[0.99959165,0.00005120114,0.00012565374,0.00009412276,0.000078023215,0.00005942479],"domain_scores_gemma":[0.9994006,0.0002161558,0.00015628594,0.00003389197,0.00009276341,0.00010023785],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003370516,0.0018918404,0.0023652427,0.0083195465,0.0008231308,0.0013210463,0.0018629745,0.002928767,0.0066530583],"category_scores_gemma":[0.0009970065,0.0005649853,0.0007873958,0.0050441287,0.0010232857,0.0030849809,0.0010032405,0.0018515624,0.005107336],"study_design_candidate":"case_report","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000116825584,0.0003198119,0.0037730378,0.009768249,0.00020401963,0.3474105,0.0006036014,0.0005512233,0.0029339714,0.0013545706,0.051487576,0.58147657],"study_design_scores_gemma":[0.000027577304,0.000069650945,0.0034563295,0.0021476508,0.00021292934,0.81782776,0.00038190495,0.00016351133,0.00058752525,0.0011701077,0.17387836,0.00007675837],"about_ca_topic_score_codex":0.0008603242,"about_ca_topic_score_gemma":0.001318199,"teacher_disagreement_score":0.0083195465,"about_ca_system_score_codex":0.0006904102,"about_ca_system_score_gemma":0.0010101161,"threshold_uncertainty_score":0.022256732},"labels":[],"label_agreement":null},{"id":"W2064028461","doi":"10.1186/s13023-014-0184-7","title":"Consensus clinical management guidelines for Friedreich ataxia","year":2014,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":123,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Friedreich's Ataxia Research Alliance","keywords":"Ataxia; Medicine; Quality of life (healthcare); Physical medicine and rehabilitation; Health care; Physical therapy; Intensive care medicine; Psychiatry; Nursing","score_opus":0.20112835209134305,"score_gpt":0.4453760419176488,"score_spread":0.24424768982630574,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2064028461","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0025858663,0.4462675,0.040923867,0.33303463,0.03336643,0.00994708,0.008253547,0.0019152947,0.12370575],"genre_scores_gemma":[0.029333234,0.4831676,0.24562752,0.12726027,0.012050584,0.021035893,0.026758397,0.00066740316,0.054099042],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9794739,0.0083811395,0.006271143,0.0007901645,0.0042320243,0.00085159077],"domain_scores_gemma":[0.94341093,0.0135638835,0.0059824265,0.0009799391,0.033664,0.0023988965],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.017876351,0.0015090709,0.0027223404,0.007142562,0.0021642158,0.0038537432,0.0068766065,0.009635695,0.021352839],"category_scores_gemma":[0.07253553,0.0010130178,0.005256904,0.0043661324,0.0012184137,0.003760623,0.0038191662,0.008267081,0.013768727],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00013960426,0.00015506757,0.000679706,0.016662188,0.00018293531,0.00057936204,0.00071130437,0.00082185667,0.00032446708,0.0068288934,0.6328483,0.34006628],"study_design_scores_gemma":[0.00029987993,0.000115803596,0.0013883059,0.081916936,0.0003912384,0.00085911434,0.00050163385,0.0004787509,0.00025432865,0.009489431,0.90421855,0.00008597803],"about_ca_topic_score_codex":0.012539067,"about_ca_topic_score_gemma":0.019482845,"teacher_disagreement_score":0.021352839,"about_ca_system_score_codex":0.0051362817,"about_ca_system_score_gemma":0.021917174,"threshold_uncertainty_score":0.09454036},"labels":[],"label_agreement":null},{"id":"W2076265228","doi":"10.1186/s13023-015-0248-3","title":"Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Cannabis and Cannabinoid Research","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia Hospital; Spinal Cord Injury BC; Pancreas Centre (Canada); British Columbia Centre of Excellence for Women's Health; World Wildlife Fund Canada; University of Alberta; Child and Family Research Institute; BC Children's Hospital; University of British Columbia","funders":"National Institute on Drug Abuse; Genome British Columbia; Michael Smith Health Research BC; Children's Hospital Foundation; National Institute of General Medical Sciences; Radboud Universiteit; Canadian Institutes of Health Research; Genome Canada","keywords":"Missense mutation; Fatty acid amide hydrolase; Exome sequencing; Sanger sequencing; Ataxia; Compound heterozygosity; Autism; Biology; Mutation; Medicine; Genetics; Psychiatry; Gene; Cannabinoid receptor","score_opus":0.011542228647547326,"score_gpt":0.2636888163116619,"score_spread":0.2521465876641146,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2076265228","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9883922,0.0016332828,0.0016193116,0.0025825938,0.00022793267,0.00008885612,0.0007417211,0.00018412275,0.0045301304],"genre_scores_gemma":[0.99501294,0.00062927534,0.000984503,0.00067585474,0.00011362503,0.000013998079,0.00016923656,0.000029013823,0.0023714802],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.99977237,0.000017436212,0.00002099525,0.000085123094,0.00005148232,0.000052569107],"domain_scores_gemma":[0.99969566,0.00006219433,0.00007200296,0.000012085817,0.000024964325,0.00013323434],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00016489223,0.0012942762,0.00053886446,0.0018342328,0.0014470415,0.00042453984,0.0005655543,0.0016752133,0.0024139897],"category_scores_gemma":[0.00059324544,0.00032685182,0.0005343395,0.0005629146,0.00076459063,0.00034728472,0.0006260116,0.0010306863,0.00053751766],"study_design_candidate":"case_report","study_design_consensus":"case_report","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00011568349,0.00012720804,0.016704526,0.000034627687,0.000028195287,0.9694402,0.00035335383,0.00010292479,0.008431096,0.0002540862,0.00060688256,0.0038011803],"study_design_scores_gemma":[0.000018723615,0.00024251023,0.051093664,0.000020282623,0.000035684603,0.9448526,0.00013910899,0.0002835605,0.0020632308,0.00016325165,0.001064032,0.000023472494],"about_ca_topic_score_codex":0.005054799,"about_ca_topic_score_gemma":0.00590843,"teacher_disagreement_score":0.005054799,"about_ca_system_score_codex":0.00074551866,"about_ca_system_score_gemma":0.00063897093,"threshold_uncertainty_score":0.010050774},"labels":[],"label_agreement":null},{"id":"W2097721154","doi":"10.1186/1750-1172-8-8","title":"Recommendations for the management of tyrosinaemia type 1","year":2013,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":226,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"Swedish Orphan Biovitrum","keywords":"Expert opinion; Tyrosinemia; Medicine; Intensive care medicine; Biology","score_opus":0.03652255213169743,"score_gpt":0.32869222713351925,"score_spread":0.29216967500182184,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2097721154","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0004272771,0.95556706,0.002306015,0.023688223,0.004656302,0.00020216352,0.000661911,0.00016513171,0.012325859],"genre_scores_gemma":[0.0022725302,0.967256,0.008285692,0.010110225,0.0014387398,0.00030193082,0.0012021976,0.00002775114,0.009104905],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9991788,0.00023544686,0.00021560554,0.00008010989,0.00023475985,0.000055267836],"domain_scores_gemma":[0.9990068,0.00033980655,0.00019813843,0.0000281186,0.0003494206,0.00007777022],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0011726046,0.0010563482,0.0015897199,0.002973265,0.00041150374,0.0009321199,0.0021720456,0.003045674,0.014007262],"category_scores_gemma":[0.0029594135,0.0003056329,0.0015845138,0.0017043799,0.0004796823,0.0014180588,0.0008754853,0.0035480356,0.009255897],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00011177448,0.00012155544,0.00020973834,0.019324664,0.00017341814,0.0011267344,0.00014025065,0.00028614976,0.0009801729,0.0034475473,0.27723417,0.69684374],"study_design_scores_gemma":[0.00007025735,0.0000420845,0.0007467642,0.017786039,0.00018778833,0.002595632,0.0000954967,0.000057930018,0.00019166824,0.002692242,0.9755088,0.000025290861],"about_ca_topic_score_codex":0.0022508898,"about_ca_topic_score_gemma":0.00331438,"teacher_disagreement_score":0.014007262,"about_ca_system_score_codex":0.0008106819,"about_ca_system_score_gemma":0.0017565631,"threshold_uncertainty_score":0.046858966},"labels":[],"label_agreement":null},{"id":"W2098491437","doi":"10.1186/s13023-014-0173-x","title":"A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases","year":2014,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":99,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Canadian MPS Society for Mucopolysaccharide and Related Diseases","funders":"","keywords":"Medicine; MEDLINE; Observational study; Checklist; Strengthening the reporting of observational studies in epidemiology; Epidemiology; Cochrane Library; Systematic review; Pediatrics; Data extraction; Family medicine; Meta-analysis; Internal medicine","score_opus":0.06546993247854745,"score_gpt":0.38343717366648933,"score_spread":0.3179672411879419,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2098491437","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":"reporting","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":"reporting","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.001879858,0.9903172,0.000935207,0.0021209805,0.00052700477,0.0023812826,0.0012326017,0.000029766714,0.0005760751],"genre_scores_gemma":[0.042404443,0.928922,0.010542549,0.0036676365,0.0004253281,0.012802054,0.0009653646,0.000041170602,0.00022943091],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.78702646,0.09174793,0.093976915,0.0055450923,0.02037061,0.0013330342],"domain_scores_gemma":[0.5497227,0.34390405,0.06280153,0.008591373,0.032983467,0.0019969437],"candidate_categories":["metaresearch","metaepi_narrow","metaepi_broad"],"consensus_categories":[],"category_scores_codex":[0.11270093,0.0021798748,0.015559964,0.026475027,0.0018456946,0.007140723,0.0039694877,0.0041168286,0.0040181763],"category_scores_gemma":[0.361499,0.002543757,0.010720305,0.024448467,0.003167209,0.00820137,0.0043118782,0.0025098943,0.00047930772],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000116923526,0.000008868311,0.0010390616,0.9684128,0.007178549,0.00011514099,0.00057335827,0.000065632645,0.000093275674,0.0003205259,0.0017292906,0.020346386],"study_design_scores_gemma":[0.00016028756,0.00007505866,0.0021307091,0.9659073,0.020092916,0.00018062202,0.00045502724,0.00007048332,0.00007430507,0.00034738233,0.010478286,0.000027779284],"about_ca_topic_score_codex":0.009390137,"about_ca_topic_score_gemma":0.030163692,"teacher_disagreement_score":0.99782014,"about_ca_system_score_codex":0.011414938,"about_ca_system_score_gemma":0.035369806,"threshold_uncertainty_score":0.59602666},"labels":[],"label_agreement":null},{"id":"W2100145202","doi":"10.1186/1750-1172-5-34","title":"The diagnosis of inherited metabolic diseases by microarray gene expression profiling","year":2010,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"St. Thomas Hospital","funders":"Engineering and Physical Sciences Research Council","keywords":"Biology; Gene; Microarray; Gene expression profiling; Gene expression; Microarray analysis techniques; Genetics; Frameshift mutation; Molecular biology; Phenotype","score_opus":0.00577103207815942,"score_gpt":0.23885053862165093,"score_spread":0.2330795065434915,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2100145202","genre_codex":"empirical","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.97935313,0.0018638147,0.014963037,0.00032037598,0.000036846275,0.000060933522,0.0015188542,0.00014110107,0.0017418897],"genre_scores_gemma":[0.97217417,0.0010501216,0.024153449,0.0001560565,0.000033116667,0.00012742828,0.0015013319,0.000014688441,0.00078956835],"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","domain_scores_codex":[0.99972326,0.00006696619,0.000020907504,0.00007105797,0.00008445853,0.00003330728],"domain_scores_gemma":[0.99980897,0.00009086553,0.000029474353,0.000015965497,0.00003990238,0.000014830263],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00029107326,0.00025530078,0.0002585691,0.0005957965,0.00013975902,0.00023002745,0.00014440781,0.00028954376,0.00090070715],"category_scores_gemma":[0.00068000617,0.000099731544,0.00012000504,0.0003603531,0.00014294984,0.0001475599,0.0001400803,0.0003005241,0.00032776204],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0006032292,0.00007897164,0.10023853,0.00010993276,0.000049459744,0.0005395724,0.000073822965,0.0004184211,0.86713725,0.00016866431,0.00068862666,0.029893573],"study_design_scores_gemma":[0.000053562115,0.00079653907,0.43108293,0.000042134943,0.00017089247,0.009579422,0.00027593548,0.013688158,0.53688645,0.0006770194,0.0067106956,0.000036270565],"about_ca_topic_score_codex":0.00033946615,"about_ca_topic_score_gemma":0.0005490878,"teacher_disagreement_score":0.00090070715,"about_ca_system_score_codex":0.00016772102,"about_ca_system_score_gemma":0.000098081255,"threshold_uncertainty_score":0.0030131936},"labels":[],"label_agreement":null},{"id":"W2101050109","doi":"10.1186/1750-1172-7-102","title":"Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":48,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Toronto; Mount Sinai Hospital","funders":"Actelion Pharmaceuticals; Synarc","keywords":"Medicine; Enzyme replacement therapy; Internal medicine; Clinical endpoint; Adverse effect; Prospective cohort study; Gastroenterology; Surgery; Clinical trial; Disease","score_opus":0.039585105079485046,"score_gpt":0.35440759481484724,"score_spread":0.3148224897353622,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2101050109","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.98956525,0.006978005,0.0005796003,0.00021557765,0.00008206372,0.001755882,0.00029540926,0.000037444708,0.0004905827],"genre_scores_gemma":[0.99304456,0.0026826316,0.0011570912,0.00044959484,0.00025645987,0.0015291765,0.00045418733,0.0000111197605,0.00041524792],"study_design_codex":"randomized_trial","study_design_gemma":"nonrandomized_trial","domain_scores_codex":[0.997502,0.001650741,0.00023678526,0.00020176511,0.00025187974,0.0001568025],"domain_scores_gemma":[0.99624485,0.0012180511,0.001336303,0.00036738152,0.00027686477,0.00055652566],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.007968152,0.001342599,0.002828028,0.000485034,0.00038964284,0.0013427985,0.0008209019,0.0017750704,0.0021683057],"category_scores_gemma":[0.00365504,0.00047689554,0.0018763784,0.0005556446,0.001274077,0.0010524206,0.0004182822,0.0017730253,0.00041262954],"study_design_candidate":"nonrandomized_trial","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.9079545,0.017488532,0.00973441,0.0011350074,0.0019879227,0.00019953129,0.00020976971,0.00047599676,0.0120962085,0.00011482294,0.00048568903,0.048117656],"study_design_scores_gemma":[0.3964531,0.5819686,0.017225312,0.00009062836,0.0009611441,0.00017584454,0.000050645594,0.00063027686,0.001574637,0.00007984572,0.00076045154,0.000029460174],"about_ca_topic_score_codex":0.0002934201,"about_ca_topic_score_gemma":0.00067252363,"teacher_disagreement_score":0.007968152,"about_ca_system_score_codex":0.000713142,"about_ca_system_score_gemma":0.0011157341,"threshold_uncertainty_score":0.042140126},"labels":[],"label_agreement":null},{"id":"W2101483315","doi":"10.1186/s13023-015-0337-3","title":"Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Biotechnology Research Institute","funders":"Samsung Medical Center, Sungkyunkwan University; Samsung; Samsung Biomedical Research Institute","keywords":"Knockout mouse; Hurler syndrome; Endocrinology; Internal medicine; Grip strength; Mucopolysaccharidosis type I; Open field; Bone mineral; Chemistry; Medicine; Osteoporosis; Physiology; Disease; Enzyme replacement therapy","score_opus":0.034845786814928746,"score_gpt":0.24832172866289806,"score_spread":0.2134759418479693,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2101483315","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9959359,0.00057284493,0.0019081034,0.000082997176,0.000025043253,0.000030291387,0.00076701853,0.00017186052,0.0005058959],"genre_scores_gemma":[0.99320364,0.0005726583,0.0030234961,0.000084163315,0.000015723184,0.00008094918,0.001020977,0.000045038636,0.0019532286],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.9997528,0.000028023182,0.00004156721,0.000094694675,0.000046939083,0.00003595778],"domain_scores_gemma":[0.999793,0.000019222913,0.00009312439,0.000013015473,0.000014943646,0.00006678259],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00013985929,0.001149962,0.00048087444,0.0009896434,0.0001781724,0.00021992612,0.00023619976,0.00060696824,0.0027100346],"category_scores_gemma":[0.00019226196,0.00022777318,0.0003623475,0.0002323536,0.0004105872,0.00019904776,0.0003436594,0.000447466,0.00057466346],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00052586145,0.00020377587,0.005985621,0.00011343815,0.00004159417,0.0037441147,0.00012362131,0.00016988273,0.98611325,0.000111952555,0.000204326,0.0026625928],"study_design_scores_gemma":[0.00032461903,0.0050588185,0.2493113,0.0001669933,0.00044907097,0.0736076,0.00045023137,0.0034307195,0.66033006,0.00053053966,0.00623642,0.000103594495],"about_ca_topic_score_codex":0.0004251905,"about_ca_topic_score_gemma":0.00050901045,"teacher_disagreement_score":0.0027100346,"about_ca_system_score_codex":0.00015722774,"about_ca_system_score_gemma":0.00013388442,"threshold_uncertainty_score":0.009065986},"labels":[],"label_agreement":null},{"id":"W2102040294","doi":"10.1186/1750-1172-8-100","title":"Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Credit Valley Hospital; Trillium Health Centre; Child and Family Research Institute; University of British Columbia","funders":"National Institute of General Medical Sciences; National Institutes of Health; Michael Smith Health Research BC; Wellcome Trust; Canadian Institutes of Health Research; Autism Speaks","keywords":"Haploinsufficiency; Retinoic acid; Biology; Exocyst; Notch signaling pathway; Phenotype; Genetics; Gene; Craniofacial; HES1; Cell biology","score_opus":0.008743995062968399,"score_gpt":0.2005705649278445,"score_spread":0.19182656986487612,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2102040294","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9981078,0.0002681452,0.0006200693,0.00003636642,0.000013049006,0.000012784344,0.00038255408,0.000041106225,0.000518108],"genre_scores_gemma":[0.9983028,0.00014512964,0.00041549676,0.000021777014,0.000007901167,0.000018195618,0.00039512356,0.00001682683,0.00067671103],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.9997745,0.000027719554,0.0000387368,0.00007528793,0.00005001177,0.000033675533],"domain_scores_gemma":[0.99977344,0.00006385375,0.000072689145,0.000018525365,0.000010881604,0.00006062497],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00014410548,0.0007775372,0.00032802776,0.0006758766,0.00021864528,0.00016401427,0.00024753597,0.0006611474,0.003226685],"category_scores_gemma":[0.0002667186,0.00019018543,0.00022744118,0.00023345818,0.0005682576,0.000084673426,0.00039431092,0.00036980622,0.00028311386],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0005008555,0.00006974863,0.007905116,0.00008004785,0.00004208562,0.016314851,0.00008221737,0.0002605234,0.9715443,0.00016501514,0.0001411312,0.002894071],"study_design_scores_gemma":[0.00020503506,0.0011932504,0.25506616,0.00004304504,0.0003670011,0.16709916,0.0002685373,0.0020098153,0.56984866,0.00026213384,0.0035986612,0.00003857892],"about_ca_topic_score_codex":0.00059511117,"about_ca_topic_score_gemma":0.00059444737,"teacher_disagreement_score":0.003226685,"about_ca_system_score_codex":0.00013284164,"about_ca_system_score_gemma":0.00013768378,"threshold_uncertainty_score":0.010794401},"labels":[],"label_agreement":null},{"id":"W2102941262","doi":"10.1186/s13023-014-0186-5","title":"Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":32,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Université de Sherbrooke; Cégep de Jonquière; Université du Québec à Chicoutimi; Centre Intégré de Santé et de Services Sociaux des Laurentides","funders":"Canadian Institutes of Health Research; Canada Research Chairs; Muscular Dystrophy Canada","keywords":"Wechsler Adult Intelligence Scale; Myotonic dystrophy; Intelligence quotient; Audiology; Trinucleotide repeat expansion; Psychology; Pediatrics; Age of onset; Muscular dystrophy; Internal medicine; Medicine; Cognition; Clinical psychology; Psychiatry; Disease; Genetics; Biology","score_opus":0.031631796372922676,"score_gpt":0.2627547433202627,"score_spread":0.23112294694734004,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2102941262","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9996761,0.000055212557,0.000037093807,0.0000041351404,8.20294e-7,0.000004658313,0.00010581342,0.0000018090435,0.00011439555],"genre_scores_gemma":[0.99953854,0.000022834243,0.000066371926,0.0000061926908,0.0000039178244,0.000008236846,0.00028512292,0.0000012275258,0.00006761847],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99961936,0.000071052,0.00007324832,0.00010948326,0.00008166991,0.000045150566],"domain_scores_gemma":[0.9985656,0.00043281863,0.0005150255,0.0000964774,0.00014612763,0.00024383179],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00062345783,0.00047185732,0.00029897972,0.0013383605,0.00030423977,0.000340775,0.00033592564,0.00028010653,0.0023082471],"category_scores_gemma":[0.0028092233,0.00012813152,0.00022391218,0.00041408633,0.00041484056,0.00031013292,0.00073613523,0.0002293374,0.00028394157],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0005795146,0.00007412638,0.9936515,0.000023259105,0.000112146634,0.00017379089,0.00022415907,0.00008541712,0.0010949925,0.00002616975,0.00009912898,0.0038557765],"study_design_scores_gemma":[0.000020167923,0.00033115633,0.9984567,0.0000030321132,0.000016526801,0.00072914694,0.00010157587,0.00009968676,0.0001493275,0.000016521804,0.00007383926,0.0000023201108],"about_ca_topic_score_codex":0.0011146979,"about_ca_topic_score_gemma":0.001373187,"teacher_disagreement_score":0.0023082471,"about_ca_system_score_codex":0.00027877948,"about_ca_system_score_gemma":0.00011731355,"threshold_uncertainty_score":0.0077218413},"labels":[],"label_agreement":null},{"id":"W2103044501","doi":"10.1186/s13023-014-0170-0","title":"A comparison of interventional clinical trials in rare versus non-rare diseases: an analysis of ClinicalTrials.gov","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":147,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Medical Research Council; University of Liverpool","keywords":"Clinical trial; Medicine; Rare disease; Disease; Orphan drug; Pediatrics; Internal medicine; Bioinformatics","score_opus":0.08150398842827851,"score_gpt":0.4423546782871137,"score_spread":0.3608506898588352,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2103044501","genre_codex":"review","genre_gemma":"empirical","domain_codex":null,"domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":"methods","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.2777815,0.34197012,0.03898553,0.004466221,0.0010724907,0.033533115,0.28698495,0.00095835415,0.014247819],"genre_scores_gemma":[0.7358399,0.040824708,0.05538707,0.0033134145,0.00057106355,0.07744082,0.0844647,0.0008010698,0.0013572456],"study_design_codex":"systematic_review","study_design_gemma":"observational","domain_scores_codex":[0.57737756,0.21246758,0.13366109,0.021897933,0.051250495,0.0033453892],"domain_scores_gemma":[0.33538115,0.5223868,0.11063056,0.01507116,0.014361112,0.0021692878],"candidate_categories":["metaresearch","metaepi_broad"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.19354787,0.0016685264,0.010409517,0.039680876,0.0010046331,0.0065929717,0.0029050303,0.0027749715,0.0075321374],"category_scores_gemma":[0.5003718,0.0011009045,0.0114257485,0.06854862,0.0016037982,0.006960927,0.0066699674,0.0030771655,0.0012092792],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.051460654,0.00062868325,0.22668657,0.27013743,0.22818801,0.001614369,0.0025193542,0.0063929595,0.0030890668,0.01531283,0.028455213,0.16551487],"study_design_scores_gemma":[0.019202461,0.00875222,0.45939714,0.10695711,0.18996422,0.00533586,0.0038501893,0.013541501,0.0038179036,0.01875177,0.16966255,0.0007671645],"about_ca_topic_score_codex":0.0011695002,"about_ca_topic_score_gemma":0.00215898,"teacher_disagreement_score":0.98959047,"about_ca_system_score_codex":0.0039159805,"about_ca_system_score_gemma":0.005785335,"threshold_uncertainty_score":0.994499},"labels":[],"label_agreement":null},{"id":"W2104222586","doi":"10.1186/s13023-015-0234-9","title":"Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"University of Toronto","keywords":"Epilepsy; Movement disorders; Cohort; Retrospective cohort study; Medicine; Neurotransmitter; Human genetics; Cohort study; Psychiatry; Internal medicine; Biology; Disease; Genetics; Central nervous system","score_opus":0.004297071954771141,"score_gpt":0.21581361986575387,"score_spread":0.21151654791098273,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2104222586","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9991027,0.00018123079,0.00011040604,0.000014950087,0.000005702536,0.000024740135,0.00038212514,0.0000037620782,0.00017446089],"genre_scores_gemma":[0.99914396,0.00014356308,0.00012099687,0.000028687984,0.000007977587,0.00002268913,0.00046857743,0.000003053769,0.00006050931],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9989938,0.00016962882,0.00016184646,0.00037244623,0.00016464683,0.00013761206],"domain_scores_gemma":[0.99806935,0.0002842833,0.00083218166,0.00025533687,0.00025492278,0.0003038917],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0011079119,0.0004004175,0.0005363883,0.001411199,0.00063014944,0.0006625383,0.00050112244,0.00054691284,0.0015199939],"category_scores_gemma":[0.0023230298,0.0005920607,0.000652759,0.0012130025,0.00036287901,0.0007988788,0.00067079056,0.00047673058,0.00031340244],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00004588765,0.000019724856,0.9992436,0.0000047228,0.00003320138,0.00015635426,0.0000413069,0.000010935953,0.000118600066,0.000006297802,0.000036173493,0.00028304887],"study_design_scores_gemma":[0.000011591486,0.00023173403,0.99682605,0.000009775748,0.00006175035,0.0021022225,0.00031801529,0.00014040014,0.000088391054,0.000011606862,0.00018964369,0.000008860995],"about_ca_topic_score_codex":0.0060028955,"about_ca_topic_score_gemma":0.0049285376,"teacher_disagreement_score":0.0060028955,"about_ca_system_score_codex":0.0004039251,"about_ca_system_score_gemma":0.0005254293,"threshold_uncertainty_score":0.011935949},"labels":[],"label_agreement":null},{"id":"W2104281302","doi":"10.1186/1750-1172-8-108","title":"A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health","funders":"National Alliance for Research on Schizophrenia and Depression","keywords":"MECP2; Exon; Genetics; Biology; Frameshift mutation; RNA splicing; Silent mutation; Mutation; Splice site mutation; splice; Rett syndrome; Stop codon; Alternative splicing; Exon skipping; Intron; Gene; Phenotype; RNA","score_opus":0.009596170244331891,"score_gpt":0.22495406519819594,"score_spread":0.21535789495386404,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2104281302","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9990023,0.0001121116,0.00033633015,0.00013169684,0.00002191446,0.000014846858,0.0001145095,0.000019335681,0.0002469674],"genre_scores_gemma":[0.9987348,0.0000967525,0.0005985485,0.000095890944,0.000033819037,0.000008534287,0.000082993116,0.00001648724,0.00033229523],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9997671,0.000024649516,0.000029558521,0.00009452108,0.000043149914,0.00004097838],"domain_scores_gemma":[0.9995503,0.00019653657,0.000100579804,0.000019747493,0.000021834583,0.00011100367],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00014210748,0.0011622444,0.00043153606,0.00077643286,0.0008454633,0.00030943178,0.0003105001,0.00176216,0.0018819834],"category_scores_gemma":[0.0008153205,0.00031609257,0.00062189996,0.00038266674,0.00067758805,0.000206064,0.00030183315,0.0010481712,0.000596941],"study_design_candidate":"case_report","study_design_consensus":"case_report","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00069832674,0.00019497587,0.070475735,0.000065774526,0.00006789454,0.80012923,0.00088423205,0.0004156583,0.12177075,0.00016344065,0.00034722014,0.004786728],"study_design_scores_gemma":[0.00007154818,0.0008946842,0.08958871,0.00002134907,0.00008983598,0.8756551,0.00027338564,0.0011431666,0.031111427,0.0001244178,0.0009829402,0.00004333314],"about_ca_topic_score_codex":0.0014559557,"about_ca_topic_score_gemma":0.0013511266,"teacher_disagreement_score":0.0018819834,"about_ca_system_score_codex":0.0003324239,"about_ca_system_score_gemma":0.0002499257,"threshold_uncertainty_score":0.00629586},"labels":[],"label_agreement":null},{"id":"W2104787181","doi":"10.1186/1750-1172-8-62","title":"Intellectual disability associated with a homozygous missense mutation in THOC6","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Western University; Medicine Hat College; Alberta Children's Hospital; University of Calgary; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; National Heart, Lung, and Blood Institute; Université de Montréal; University of Toronto; Alberta Children's Hospital Foundation; Ontario Genomics Institute; Génome Québec; Genome British Columbia; Children's Hospital Foundation; Government of Canada; Genome Canada; March of Dimes Foundation; Institute of Genetics; Ontario Genomics; McGill University; University of Ottawa","keywords":"Missense mutation; Biology; Genetics; Gene; Intellectual disability; Exome sequencing; Gene knockdown; Mutant; Mutation","score_opus":0.006337422140870294,"score_gpt":0.22170736910879624,"score_spread":0.21536994696792594,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2104787181","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.998066,0.00022906778,0.00037257257,0.000106161104,0.000030124622,0.000019763294,0.00022904419,0.000040554667,0.0009065874],"genre_scores_gemma":[0.9985973,0.00009004639,0.00053485343,0.000050548704,0.00002698289,0.000009012677,0.00018940413,0.00000943584,0.0004923548],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.9998535,0.000009521683,0.000016096035,0.00004036137,0.00003473069,0.00004577378],"domain_scores_gemma":[0.99957174,0.00013303739,0.00013455245,0.000021644852,0.000028960312,0.00011008665],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00010639863,0.0012529298,0.00040808844,0.0009264537,0.0006431214,0.0003024,0.0004466752,0.0009034571,0.0038529013],"category_scores_gemma":[0.000581044,0.00014404145,0.00037914322,0.00054723123,0.0005805732,0.0001524687,0.00074664527,0.00044200526,0.00033058046],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00076320337,0.00014772911,0.08229313,0.00019582857,0.00011124411,0.77470666,0.0008055931,0.00035519848,0.12671708,0.0004906991,0.0007299301,0.012683703],"study_design_scores_gemma":[0.00015159111,0.00043683895,0.19195953,0.000058892583,0.00013504451,0.7672096,0.00028302617,0.00091559434,0.03549297,0.0003541611,0.0029577657,0.00004501108],"about_ca_topic_score_codex":0.0018404882,"about_ca_topic_score_gemma":0.0017902205,"teacher_disagreement_score":0.0038529013,"about_ca_system_score_codex":0.00044157336,"about_ca_system_score_gemma":0.0003431459,"threshold_uncertainty_score":0.012889266},"labels":[],"label_agreement":null},{"id":"W2104938256","doi":"10.1186/s13023-015-0243-8","title":"The genotypic and phenotypic spectrum of PIGA deficiency","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Complement system in diseases","field":"Immunology and Microbiology","cited_by":87,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Acuitas Therapeutics (Canada); World Wildlife Fund Canada; Intertek (Canada); Child and Family Research Institute; Women's Health Research Institute; BC Children's Hospital; Spinal Cord Injury BC; Pacific Centre for Reproductive Medicine; British Columbia Centre of Excellence for Women's Health; Pancreas Centre (Canada); Canadian MPS Society for Mucopolysaccharide and Related Diseases; University of British Columbia","funders":"Canadian Institutes of Health Research; Genome British Columbia; Michael Smith Health Research BC; Children's Hospital Foundation; Genome Canada","keywords":"Missense mutation; Biology; Genetics; Frameshift mutation; Global developmental delay; Germline; Germline mutation; Compound heterozygosity; Mutation; Phenotype; Gene","score_opus":0.017725139662818475,"score_gpt":0.24868121042687885,"score_spread":0.23095607076406038,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2104938256","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9895347,0.00079474295,0.0011124812,0.00025778724,0.000023545323,0.00003521295,0.00062923774,0.00009779986,0.007514493],"genre_scores_gemma":[0.99823195,0.00028870968,0.0006717735,0.00008970324,0.000023024255,0.000016111904,0.00022420964,0.000015636162,0.0004389406],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.9998311,0.000022751921,0.000019999628,0.000050244267,0.000046264056,0.000029589408],"domain_scores_gemma":[0.999826,0.000049321286,0.000038445905,0.000010810122,0.00002201476,0.000053394317],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00013559175,0.0011552101,0.00026925805,0.00082921545,0.00028655422,0.00024140536,0.00032388547,0.0004488775,0.0035035468],"category_scores_gemma":[0.0005998971,0.00011449321,0.00018985133,0.0003738332,0.00047676032,0.00016152178,0.0005869206,0.00020881477,0.0003976581],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00091656804,0.0002688938,0.3132517,0.00030435857,0.00012348825,0.43969667,0.00097366876,0.00086461,0.18349248,0.0017973074,0.0023213744,0.055988945],"study_design_scores_gemma":[0.000047252717,0.00035290467,0.22142927,0.00008119324,0.00009274239,0.7624244,0.00036718004,0.0006643359,0.008240353,0.00087863195,0.0053987186,0.000023043527],"about_ca_topic_score_codex":0.0005665325,"about_ca_topic_score_gemma":0.0005079236,"teacher_disagreement_score":0.0035035468,"about_ca_system_score_codex":0.00012682093,"about_ca_system_score_gemma":0.00023416754,"threshold_uncertainty_score":0.011720598},"labels":[],"label_agreement":null},{"id":"W2108299788","doi":"10.1186/s13023-015-0242-9","title":"The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome","year":2015,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":94,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Ministero della Salute","keywords":"Hyperammonemia; Ornithine transcarbamylase; Medicine; Urea cycle; Internal medicine; Lethargy; Endocrinology; Pediatrics; Biology; Genetics","score_opus":0.01905905471444074,"score_gpt":0.2906864802215086,"score_spread":0.27162742550706787,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2108299788","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.07113499,0.9249825,0.00025069472,0.0002644818,0.00008039145,0.000092231145,0.0017989889,0.00001118558,0.0013845793],"genre_scores_gemma":[0.4087848,0.5864556,0.00094989117,0.00063577446,0.00025790976,0.00012914928,0.0025236188,0.000007754916,0.0002555681],"study_design_codex":"observational","study_design_gemma":"not_applicable","domain_scores_codex":[0.99773103,0.00035434685,0.0010630229,0.00026533633,0.00052941777,0.00005686406],"domain_scores_gemma":[0.99214995,0.003384878,0.0036346507,0.00017217243,0.000550123,0.000108219545],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0016668155,0.00046834772,0.0012933434,0.00628582,0.00022246175,0.0006640956,0.00048679265,0.00046903596,0.0010896288],"category_scores_gemma":[0.0046463823,0.00018420246,0.0008675759,0.009479367,0.00060828635,0.00061369996,0.00047060722,0.00016294743,0.00016865211],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0009307412,0.0000822984,0.41879869,0.24424583,0.010069861,0.019851137,0.0009543118,0.00030505884,0.006178738,0.00067959476,0.0062200674,0.29168376],"study_design_scores_gemma":[0.00031084128,0.00058402534,0.6585091,0.124740824,0.021621149,0.11612543,0.0015912029,0.00022126148,0.0031124188,0.0009161825,0.0721938,0.00007379876],"about_ca_topic_score_codex":0.0010082272,"about_ca_topic_score_gemma":0.0024680416,"teacher_disagreement_score":0.00628582,"about_ca_system_score_codex":0.0004161841,"about_ca_system_score_gemma":0.001065291,"threshold_uncertainty_score":0.00881505},"labels":[],"label_agreement":null},{"id":"W2108607187","doi":"10.1186/1750-1172-2-48","title":"Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome","year":2007,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":304,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"","keywords":"Hypoxanthine-guanine phosphoribosyltransferase; Lesch–Nyhan syndrome; Choreoathetosis; Prenatal diagnosis; Medicine; Gout; Hyperuricemia; Uric acid; Psychomotor retardation; Hypoxanthine; Internal medicine; Biology; Genetics; Endocrinology; Pediatrics; Pregnancy; Dystonia; Fetus; Pathology; Biochemistry; Gene; Psychiatry; Enzyme","score_opus":0.030836106187683336,"score_gpt":0.32848239403409896,"score_spread":0.2976462878464156,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2108607187","genre_codex":"empirical","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9607038,0.013982675,0.0046168095,0.0010822155,0.0001242823,0.00019656715,0.00078384514,0.0004609337,0.018048866],"genre_scores_gemma":[0.98691154,0.0039648027,0.0017403698,0.00029859465,0.000060181515,0.000037077643,0.0002917506,0.000020483172,0.0066750287],"study_design_codex":"case_report","study_design_gemma":"not_applicable","domain_scores_codex":[0.9999105,0.000009792212,0.000006668157,0.00002826095,0.00002677347,0.000017969767],"domain_scores_gemma":[0.9999182,0.000019647707,0.00002629033,0.0000024485062,0.000009305406,0.000024027184],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007447089,0.0009925109,0.00033004134,0.00064469245,0.0003264056,0.00026354345,0.00028291956,0.00060342666,0.0027174847],"category_scores_gemma":[0.00041522156,0.00011630963,0.00012289552,0.0006059166,0.000380288,0.0002658531,0.00037224535,0.0002560467,0.0004876951],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0003380791,0.00016273677,0.07598855,0.0006095687,0.00016010227,0.7699828,0.0009886259,0.0006719871,0.07667081,0.0025923834,0.006323101,0.065511145],"study_design_scores_gemma":[0.000056381425,0.0001738871,0.11494418,0.00016585842,0.000128258,0.85403323,0.00026049555,0.0008834662,0.014137346,0.00084146595,0.014335062,0.000040397143],"about_ca_topic_score_codex":0.002728786,"about_ca_topic_score_gemma":0.0031690882,"teacher_disagreement_score":0.002728786,"about_ca_system_score_codex":0.0002641036,"about_ca_system_score_gemma":0.00036364121,"threshold_uncertainty_score":0.0090909},"labels":[],"label_agreement":null},{"id":"W2109214140","doi":"10.1186/1750-1172-4-29","title":"SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance","year":2009,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neonatal Respiratory Health Research","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Hospital for Sick Children","keywords":"Pulmonary alveolar proteinosis; Bronchoalveolar lavage; Ex vivo; Molecular biology; Pathology; Monocyte; Immunology; Medicine; Lung; Chemistry; Biology; In vitro; Internal medicine; Biochemistry","score_opus":0.011844864452828965,"score_gpt":0.30902449249961955,"score_spread":0.2971796280467906,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2109214140","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99777573,0.0012183329,0.0004106546,0.000053400454,0.000017822837,0.000018205707,0.000036396366,0.000032401924,0.00043711724],"genre_scores_gemma":[0.998494,0.00035116528,0.0006080028,0.000041858035,0.000023558465,0.000018323553,0.0001174753,0.0000059767926,0.00033961044],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.9999063,0.000029007022,0.000010199041,0.000010141457,0.000016887227,0.000027321603],"domain_scores_gemma":[0.9998516,0.00003839947,0.000021836084,0.00001705109,0.000020087933,0.000050939485],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00017331148,0.00031599763,0.00027889354,0.00017471035,0.00015663965,0.00016080105,0.0001856639,0.00026308955,0.00074290566],"category_scores_gemma":[0.00018443883,0.00006144975,0.00020021114,0.00006757098,0.0002760942,0.00011375884,0.00023754693,0.0005798148,0.00025247206],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010522937,0.00030543384,0.0013371117,0.000097030344,0.000009318783,0.00047115597,0.000039354993,0.000048961312,0.991979,0.000033879307,0.00008258318,0.0045438805],"study_design_scores_gemma":[0.00026265858,0.00590575,0.022099853,0.000022894998,0.00005011359,0.0027892308,0.00008195894,0.001251864,0.9648435,0.000060719725,0.0026258032,0.000005554572],"about_ca_topic_score_codex":0.00015374759,"about_ca_topic_score_gemma":0.00022134336,"teacher_disagreement_score":0.00074290566,"about_ca_system_score_codex":0.00012722221,"about_ca_system_score_gemma":0.00012720087,"threshold_uncertainty_score":0.0024852753},"labels":[],"label_agreement":null},{"id":"W2110263692","doi":"10.1186/1750-1172-6-54","title":"Understanding the impact of 1q21.1 copy number variant","year":2011,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":55,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Ontario Genomics; Queen's University; University of Manitoba; University of Toronto; Centre for Addiction and Mental Health; University of British Columbia; Royal Columbian Hospital; Child and Family Research Institute","funders":"National Institute of General Medical Sciences; Medical Research Council; Cancer Research UK; Michael Smith Health Research BC; Canadian Institutes of Health Research; Autism Speaks","keywords":"Copy-number variation; Gene duplication; Biology; Genetics; Gene; Phenotype; Chromatin; Breakpoint; Gene dosage; Genome; Human genome; Computational biology; Gene expression; Chromosome","score_opus":0.036358573716862186,"score_gpt":0.260991747112136,"score_spread":0.22463317339527383,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2110263692","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9845977,0.0068703936,0.0049336497,0.0008580325,0.000030422212,0.000023665294,0.0012812562,0.000055896988,0.0013490214],"genre_scores_gemma":[0.99312913,0.0021246925,0.0026885539,0.00024049598,0.00006568583,0.000025466454,0.0010259121,0.00001995744,0.00068005465],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.9997429,0.00004601604,0.000016534083,0.000094656716,0.000058004593,0.0000417646],"domain_scores_gemma":[0.9994697,0.0003305478,0.00009799623,0.000028074168,0.000045115055,0.000028633423],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00042184402,0.0005756546,0.00033339032,0.0007314316,0.00014207429,0.00066441315,0.00052296283,0.00066123914,0.001986368],"category_scores_gemma":[0.0010168939,0.00013820597,0.00023518717,0.00030481664,0.0002795932,0.00046358755,0.00030492508,0.00046655998,0.00037756484],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000891763,0.00011542643,0.2691557,0.00046467484,0.00018822239,0.0035211337,0.00037888024,0.0030704858,0.66529876,0.0012762068,0.0010970715,0.05454174],"study_design_scores_gemma":[0.000041341744,0.0005797967,0.8741939,0.00010503839,0.0002925459,0.008115406,0.0003422223,0.0106454985,0.09200768,0.0026486488,0.010995418,0.00003250129],"about_ca_topic_score_codex":0.0015898085,"about_ca_topic_score_gemma":0.0011272121,"teacher_disagreement_score":0.001986368,"about_ca_system_score_codex":0.0004121556,"about_ca_system_score_gemma":0.0001768441,"threshold_uncertainty_score":0.006645024},"labels":[],"label_agreement":null},{"id":"W2118429727","doi":"10.1186/1750-1172-6-4","title":"Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation","year":2011,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"","keywords":"Mutation; Human genetics; Sensory system; Genetics; Medicine; Physical medicine and rehabilitation; Neuroscience; Psychology; Biology; Gene","score_opus":0.022710968019936363,"score_gpt":0.2499821255412215,"score_spread":0.22727115752128516,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2118429727","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9958198,0.0004219088,0.0004230843,0.0005232793,0.00005358755,0.000052510946,0.00011412371,0.0000611088,0.0025306344],"genre_scores_gemma":[0.9981627,0.0001856829,0.0003451647,0.00025506358,0.00008408185,0.000010809196,0.000055117198,0.000014388042,0.00088689936],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.99957436,0.000039084538,0.000056411936,0.00012637452,0.000076788965,0.00012702424],"domain_scores_gemma":[0.99931586,0.00015610376,0.000097849756,0.000038118527,0.000041890733,0.00035014388],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00037318288,0.0023609484,0.0012574758,0.0019153996,0.0020453657,0.00079829467,0.000729827,0.0032027815,0.0025085064],"category_scores_gemma":[0.001899409,0.0014052405,0.0009091707,0.0010836641,0.0011263014,0.0009992932,0.001072364,0.0015796323,0.00076389516],"study_design_candidate":"case_report","study_design_consensus":"case_report","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00014865774,0.00006951015,0.007981256,0.000024262708,0.0000136110675,0.9876193,0.0003002058,0.00008887118,0.0024814066,0.00007757576,0.00014191352,0.0010535197],"study_design_scores_gemma":[0.000049832364,0.00032901595,0.016580947,0.000012244879,0.000029547937,0.9813068,0.00010764057,0.00037177422,0.0006941902,0.00018573525,0.0003101209,0.000022096912],"about_ca_topic_score_codex":0.00284283,"about_ca_topic_score_gemma":0.0026247804,"teacher_disagreement_score":0.0032027815,"about_ca_system_score_codex":0.0007785455,"about_ca_system_score_gemma":0.00063363765,"threshold_uncertainty_score":0.008391857},"labels":[],"label_agreement":null},{"id":"W2119231017","doi":"10.1186/1750-1172-8-63","title":"The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":85,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Alberta; McMaster University Medical Centre; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Canadian Institutes of Health Research; Manton Center for Orphan Disease Research, Boston Children's Hospital; University of Toronto; Université de Montréal; Ontario Genomics Institute; Genome British Columbia; Institute of Genetics; National Institutes of Health; Ontario Genomics; Genome Canada; Government of Canada; McGill University; University of Ottawa","keywords":"Exon; Phenotype; Human genetics; Genetics; Short stature; Mutation; Biology; Genotype; Cohort; Genetic testing; Medicine; Gene; Internal medicine; Endocrinology","score_opus":0.009146179924821151,"score_gpt":0.25057132040907404,"score_spread":0.2414251404842529,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2119231017","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9996486,0.000055436223,0.000090423346,0.000006769473,0.0000017660692,0.0000075095422,0.000050516042,0.0000025188813,0.00013644836],"genre_scores_gemma":[0.9995541,0.000037209313,0.000111280526,0.000013298602,0.000003820301,0.00000864071,0.000107271255,0.0000018655487,0.00016247493],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9998247,0.000023097617,0.000019545869,0.000055102246,0.000031235995,0.00004635788],"domain_scores_gemma":[0.9997075,0.000088321016,0.00007002656,0.00002124377,0.000023345448,0.00008949583],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00018617391,0.0007163153,0.00037061036,0.00082345353,0.000368758,0.00022962359,0.00019085465,0.00038554834,0.0023097554],"category_scores_gemma":[0.0010648054,0.00026926238,0.00020061739,0.00031026543,0.0004726915,0.00017611949,0.0004840555,0.00019437583,0.00033265312],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00049731194,0.0001243026,0.925995,0.000041012314,0.00005095933,0.043098506,0.0016606195,0.00021788302,0.019732216,0.00008400058,0.0003005888,0.0081975795],"study_design_scores_gemma":[0.000051613373,0.0007596963,0.9347162,0.000015329633,0.00004910402,0.06168281,0.00061127107,0.00023445995,0.0011451474,0.00006636554,0.00064806215,0.000019922578],"about_ca_topic_score_codex":0.001505983,"about_ca_topic_score_gemma":0.0013630807,"teacher_disagreement_score":0.0023097554,"about_ca_system_score_codex":0.00014625686,"about_ca_system_score_gemma":0.00012992969,"threshold_uncertainty_score":0.0077269673},"labels":[],"label_agreement":null},{"id":"W2119607462","doi":"10.1186/1750-1172-9-5","title":"Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":142,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Ontario Institute for Regenerative Medicine","keywords":"Medicine; Tolerability; Ataxia; Dexamethasone; Population; Dosing; Internal medicine; Adverse effect; Anesthesia","score_opus":0.020396832483154236,"score_gpt":0.2796798601809671,"score_spread":0.25928302769781286,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2119607462","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9950317,0.00278163,0.0002064616,0.00017597192,0.00008217857,0.0008936715,0.00028788074,0.00003549275,0.00050497154],"genre_scores_gemma":[0.99233353,0.0029268463,0.0007252419,0.0004708017,0.00019313353,0.0012887861,0.00069520046,0.000013208026,0.0013532251],"study_design_codex":"randomized_trial","study_design_gemma":"nonrandomized_trial","domain_scores_codex":[0.99964607,0.00017707651,0.000022919587,0.000056322446,0.00003639927,0.00006135747],"domain_scores_gemma":[0.99946326,0.00014273227,0.00010634471,0.000045451437,0.000052264964,0.00018991616],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0012907904,0.0010752568,0.0017270977,0.00027116886,0.00025559816,0.00079490006,0.0006402514,0.0011460749,0.0023545476],"category_scores_gemma":[0.00082233036,0.0002667224,0.0010298294,0.00029541782,0.00059529155,0.00048962136,0.00019852445,0.0018700548,0.00042842544],"study_design_candidate":"nonrandomized_trial","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.8533585,0.044625707,0.0043097385,0.00092264713,0.001724337,0.00027548635,0.00023888811,0.0006474754,0.021109495,0.00008658037,0.0011119742,0.07158926],"study_design_scores_gemma":[0.5573814,0.4292417,0.0096433675,0.000047689897,0.00047674458,0.00018718962,0.000052929354,0.00045908548,0.0014998096,0.00005760306,0.0009285432,0.000023925575],"about_ca_topic_score_codex":0.0004816341,"about_ca_topic_score_gemma":0.0009948716,"teacher_disagreement_score":0.0023545476,"about_ca_system_score_codex":0.00044862018,"about_ca_system_score_gemma":0.0005972602,"threshold_uncertainty_score":0.007876813},"labels":[],"label_agreement":null},{"id":"W2120698555","doi":"10.1186/1750-1172-3-1","title":"Primary biliary cirrhosis","year":2008,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Liver Diseases and Immunity","field":"Medicine","cited_by":174,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Toronto Western Hospital; University of Toronto; University Health Network","funders":"","keywords":"Medicine; Primary biliary cirrhosis; Gastroenterology; Primary sclerosing cholangitis; Ursodeoxycholic acid; Population; Liver transplantation; Internal medicine; Liver biopsy; Autoimmune hepatitis; Asymptomatic; Liver disease; Disease; Transplantation; Biopsy","score_opus":0.033504494999116556,"score_gpt":0.30349383056785395,"score_spread":0.2699893355687374,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2120698555","genre_codex":"other","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.16080485,0.12705483,0.007615434,0.010465039,0.0035263298,0.0014722629,0.03782398,0.0019948212,0.64924246],"genre_scores_gemma":[0.72837657,0.039374936,0.0053914846,0.011497776,0.002238523,0.00097157515,0.027585546,0.00041099126,0.18415251],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.99943143,0.000096097494,0.000073380936,0.00010550421,0.00015328902,0.00014017738],"domain_scores_gemma":[0.9994192,0.00008965948,0.00012101162,0.000078921345,0.00017912062,0.00011212396],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00032728523,0.00056970643,0.0008724208,0.00085383246,0.00091593224,0.00095132075,0.0002708766,0.0005752528,0.06329635],"category_scores_gemma":[0.001704949,0.00012346296,0.00063415116,0.0014273124,0.00026015492,0.00052252185,0.00072279363,0.00075417885,0.02371475],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.001931582,0.0005757981,0.18938567,0.0057129976,0.0006022988,0.017478837,0.00049320346,0.00040201956,0.0047632176,0.008448949,0.26498199,0.50522345],"study_design_scores_gemma":[0.00023969618,0.0004590206,0.11324689,0.0017059948,0.00031154233,0.048816152,0.00030932715,0.00021323572,0.0011466256,0.00559487,0.8278775,0.000079165315],"about_ca_topic_score_codex":0.0024376612,"about_ca_topic_score_gemma":0.0022786257,"teacher_disagreement_score":0.06329635,"about_ca_system_score_codex":0.00060253043,"about_ca_system_score_gemma":0.0007602499,"threshold_uncertainty_score":0.21174741},"labels":[],"label_agreement":null},{"id":"W2122824531","doi":"10.1186/1750-1172-8-98","title":"Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Newborn Screening Ontario; McGill University and Génome Québec Innovation Centre; University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"University of Toronto; Canadian Institutes of Health Research; Vrije Universiteit Amsterdam; Université de Montréal; Ontario Genomics Institute; Génome Québec; Genome British Columbia; Government of Canada; University of Ottawa; McGill University; Ontario Genomics; Genome Canada","keywords":"Newborn screening; Sanger sequencing; Methylmalonic aciduria; Exome sequencing; Exon; Inborn error of metabolism; Phenotype; Methylmalonic acid; Compound heterozygosity; Methylmalonic acidemia; Enzyme; Amino acid; Genetics; Biochemistry; Chemistry; Gene; Mutation; Biology; Endocrinology","score_opus":0.006596434823529325,"score_gpt":0.23003668943500896,"score_spread":0.22344025461147965,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2122824531","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9949346,0.0011521047,0.0018034483,0.00025756255,0.000063037085,0.000031182983,0.00035511886,0.00018087379,0.0012221009],"genre_scores_gemma":[0.9977806,0.00039398376,0.0010163543,0.000067613655,0.00006990106,0.000011073652,0.000183144,0.000022385419,0.00045489217],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.99951494,0.000061698236,0.0000693717,0.00015833689,0.00012342902,0.00007226543],"domain_scores_gemma":[0.99899477,0.00032613103,0.00045194512,0.000030183324,0.000042898784,0.00015411717],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002761487,0.0023554515,0.0004896137,0.0013150101,0.00056384376,0.00038312448,0.0005725559,0.0015407804,0.002233901],"category_scores_gemma":[0.0010522567,0.000342479,0.00041393022,0.0009631348,0.0013203091,0.0003205008,0.0006612965,0.0008521452,0.00051639974],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010514985,0.00015983293,0.10252241,0.0004040117,0.00026196815,0.7458329,0.0010876902,0.0007329163,0.13294072,0.0005387917,0.000976986,0.013490201],"study_design_scores_gemma":[0.000052027266,0.0002764514,0.13260292,0.00006478357,0.00017064308,0.83650345,0.0002410868,0.0006645894,0.02679622,0.00030336765,0.0022927874,0.00003164724],"about_ca_topic_score_codex":0.0007635062,"about_ca_topic_score_gemma":0.000666791,"teacher_disagreement_score":0.0023554515,"about_ca_system_score_codex":0.00028531902,"about_ca_system_score_gemma":0.0002459773,"threshold_uncertainty_score":0.007473111},"labels":[],"label_agreement":null},{"id":"W2127650955","doi":"10.1186/1750-1172-7-75","title":"Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":147,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia","funders":"Deutsche Krebshilfe","keywords":"Neurofibromatosis; Medicine; Confidence interval; Cohort; Retrospective cohort study; Internal medicine; Surgery; Radiology","score_opus":0.008147486097471172,"score_gpt":0.23045110767584728,"score_spread":0.2223036215783761,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2127650955","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9995409,0.00009979747,0.000032592507,0.000010597861,0.00000246942,0.000005365687,0.00020027347,0.000001784491,0.000106331885],"genre_scores_gemma":[0.9993753,0.00008910964,0.000043485685,0.00001233204,0.0000055600235,0.000009262487,0.00038563032,0.0000018282125,0.00007742911],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9995846,0.000060734277,0.000052601405,0.0001420578,0.000082654245,0.000077328936],"domain_scores_gemma":[0.9987016,0.00025815607,0.0006097326,0.00012552255,0.00010929286,0.00019574519],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000536841,0.0003186496,0.0003592671,0.0007225706,0.0005176345,0.0006223992,0.00037160184,0.00046991603,0.0012951252],"category_scores_gemma":[0.0019687093,0.0005280388,0.00040068076,0.00073489704,0.00033569735,0.00085046317,0.000447505,0.0005034311,0.00034772418],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000053233565,0.000015570055,0.99907047,0.0000043192304,0.00001539184,0.00023758905,0.00006756239,0.000018056238,0.00012320129,0.0000045150027,0.000036123794,0.00035397644],"study_design_scores_gemma":[0.0000062951017,0.00010605302,0.99803346,0.0000046321743,0.000017484426,0.0013962127,0.00017119574,0.00008995787,0.000042451054,0.000008210556,0.00011927148,0.000004745144],"about_ca_topic_score_codex":0.004579582,"about_ca_topic_score_gemma":0.005393329,"teacher_disagreement_score":0.004579582,"about_ca_system_score_codex":0.0004451348,"about_ca_system_score_gemma":0.00034943924,"threshold_uncertainty_score":0.009105861},"labels":[],"label_agreement":null},{"id":"W2130121551","doi":"10.1186/1750-1172-8-41","title":"Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":189,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Victoria General Hospital","funders":"RWTH Aachen University; Technische Universität München; Deutsches Zentrum für Neurodegenerative Erkrankungen; Eberhard Karls Universität Tübingen","keywords":"Ataxia; Cerebellar ataxia; Genetics; Missense mutation; Pathology; Medicine; Spastic; Spinocerebellar ataxia; Biology; Phenotype; Neuroscience; Psychiatry","score_opus":0.02255315426637393,"score_gpt":0.2887545636808953,"score_spread":0.26620140941452136,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2130121551","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9941293,0.0020271174,0.0010166925,0.00025040287,0.000010491002,0.00002335602,0.00027189814,0.00005217875,0.002218586],"genre_scores_gemma":[0.9970188,0.001044108,0.001129203,0.00012338453,0.00002991384,0.000006090477,0.00029108895,0.0000072293037,0.00035008843],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9997856,0.000028612498,0.000023614462,0.000058534384,0.000053227537,0.000050380353],"domain_scores_gemma":[0.99946994,0.00011910417,0.00008526087,0.00002853709,0.00018091554,0.00011628878],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00039811648,0.0007294112,0.0003864994,0.0011413879,0.00042128103,0.00038414632,0.00032470596,0.00044946,0.0022046263],"category_scores_gemma":[0.00067349407,0.00010784174,0.00024331565,0.0007960318,0.0005062912,0.00025821166,0.00043451082,0.0003013544,0.0002331561],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0004851511,0.00014544833,0.8050013,0.00029279175,0.00012882125,0.03676951,0.00079482445,0.00082485675,0.050788227,0.00059119926,0.0018566658,0.10232112],"study_design_scores_gemma":[0.00007027067,0.00034712223,0.88245493,0.000182897,0.0001057075,0.10539292,0.00033788854,0.001436453,0.0026476495,0.00029436543,0.00669356,0.000036181693],"about_ca_topic_score_codex":0.051811386,"about_ca_topic_score_gemma":0.07274659,"teacher_disagreement_score":0.051811386,"about_ca_system_score_codex":0.0009302629,"about_ca_system_score_gemma":0.0011358334,"threshold_uncertainty_score":0.103019655},"labels":[],"label_agreement":null},{"id":"W2130622910","doi":"10.1186/1750-1172-9-68","title":"LC3, an autophagosome marker, is expressed on oligodendrocytes in Nasu-Hakola disease brains","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neuroinflammation and Neurodegeneration Mechanisms","field":"Neuroscience","cited_by":35,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"National Center for GM Crops; National Center of Neurology and Psychiatry; Ministry of Health, Labour and Welfare; Japan Society for the Promotion of Science; Ministry of Education, Culture, Sports, Science and Technology; University of Tsukuba; International Development Research Centre; National Center for Geriatrics and Gerontology; National Center for Global Health and Medicine","keywords":"Biology; Leukoencephalopathy; Microglia; Pathology; Sequestosome 1; White matter; Myelin; Progressive multifocal leukoencephalopathy; Autophagy; Oligodendrocyte; Central nervous system; Neuroscience; Immunology; Inflammation; Multiple sclerosis; Medicine; Disease; Genetics","score_opus":0.023016882107391754,"score_gpt":0.26550115690624077,"score_spread":0.24248427479884901,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2130622910","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99922156,0.00029581174,0.0001282441,0.0000057307257,0.0000018289304,0.0000061875926,0.000053772867,0.00000620805,0.0002806424],"genre_scores_gemma":[0.9991497,0.00019966788,0.0003482887,0.000013249671,0.000003370046,0.000014253686,0.00011842358,0.0000030028316,0.00015024623],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.9999336,0.000005387544,0.000010977298,0.000016477932,0.000015155014,0.000018379884],"domain_scores_gemma":[0.9999099,0.000007657961,0.00003652768,0.0000050534422,0.000012060218,0.000028849654],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009864563,0.00026428772,0.00022434235,0.00080105517,0.00038039987,0.00020130049,0.00010040608,0.00022928405,0.00074536423],"category_scores_gemma":[0.00011324118,0.00019545334,0.00015641308,0.00021768967,0.00032868295,0.00014753822,0.00028139696,0.00015498488,0.00012941963],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0008083687,0.00005674833,0.05864935,0.00013309768,0.000053305852,0.0041108397,0.00027567698,0.00006320719,0.9332284,0.00007420446,0.0000782602,0.0024686076],"study_design_scores_gemma":[0.00006805469,0.00059034175,0.8713266,0.000028882583,0.00012578406,0.021326154,0.00048685897,0.0007566365,0.103775404,0.00024889316,0.0012469938,0.000019495244],"about_ca_topic_score_codex":0.0010007856,"about_ca_topic_score_gemma":0.0014665115,"teacher_disagreement_score":0.0010007856,"about_ca_system_score_codex":0.00029008507,"about_ca_system_score_gemma":0.00014602052,"threshold_uncertainty_score":0.002493441},"labels":[],"label_agreement":null},{"id":"W2130730178","doi":"10.1186/s13023-014-0188-3","title":"Severity score for hereditary hemorrhagic telangiectasia","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"St. Michael's Hospital; SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"National Institute of Neurological Disorders and Stroke; HHT Foundation International","keywords":"Medicine; Telangiectasia; Internal medicine; Demographics; Adverse effect; Disease; Severity of illness; Framingham Risk Score; Surgery","score_opus":0.012577400983059024,"score_gpt":0.2545864930631318,"score_spread":0.2420090920800728,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2130730178","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9827085,0.001848715,0.003187981,0.00059030607,0.00007195231,0.00029395494,0.0052945814,0.00010037701,0.0059036235],"genre_scores_gemma":[0.9888494,0.00050595414,0.004198779,0.00008636938,0.000049289993,0.00011591111,0.0053227334,0.000009772145,0.00086176774],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9994486,0.00015347684,0.00009795109,0.00006070303,0.00019958861,0.000039709616],"domain_scores_gemma":[0.9976782,0.00034353373,0.0011993129,0.000059671078,0.0003620047,0.00035720592],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0010454361,0.00054068834,0.0003847534,0.0019216649,0.0002221849,0.000370379,0.00032935015,0.00026507556,0.0036892726],"category_scores_gemma":[0.0028956959,0.00007031386,0.000551718,0.0009138806,0.00018860008,0.00028824154,0.0005458926,0.0004851463,0.0003950768],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00033314538,0.000034352863,0.9844558,0.00008209933,0.0002329772,0.000096630705,0.00003385906,0.000288335,0.00067830534,0.00014857862,0.0014281658,0.012187677],"study_design_scores_gemma":[0.00003708059,0.0002617944,0.9963651,0.000027664912,0.00009737176,0.0010665022,0.00003624045,0.00076487917,0.00025368153,0.00025771427,0.000824045,0.000007934684],"about_ca_topic_score_codex":0.0016267287,"about_ca_topic_score_gemma":0.0018667296,"teacher_disagreement_score":0.0036892726,"about_ca_system_score_codex":0.00036257625,"about_ca_system_score_gemma":0.00032250505,"threshold_uncertainty_score":0.012341797},"labels":[],"label_agreement":null},{"id":"W2131733964","doi":"10.1186/1750-1172-9-4","title":"VPAC2 receptor agonist BAY 55-9837 increases SMN protein levels and moderates disease phenotype in severe spinal muscular atrophy mouse models","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Institute of Genetics; U.S. Public Health Service; University of Ottawa; FightSMA; Canadian Institutes of Health Research; Spinal Muscular Atrophy Foundation","keywords":"SMN1; Spinal muscular atrophy; SMA*; Biology; Agonist; Motor neuron; Receptor; Phenotype; Cell biology; Gene; Endocrinology; Genetics; Neuroscience; Spinal cord","score_opus":0.018723381568864366,"score_gpt":0.2668407796566319,"score_spread":0.24811739808776753,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2131733964","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9912054,0.0029073881,0.0014960394,0.00038874868,0.0001386,0.00005002202,0.0011798287,0.00050049654,0.0021334942],"genre_scores_gemma":[0.985966,0.0025691038,0.0026508886,0.00013888841,0.00004314264,0.00014206956,0.0016896666,0.00006322035,0.0067370054],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.99979943,0.000028363434,0.00002933929,0.000037340746,0.00004470125,0.000060838298],"domain_scores_gemma":[0.99985445,0.000011965336,0.00004058741,0.000013782791,0.000011685595,0.00006743721],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00016705258,0.000727514,0.00054453727,0.0005943763,0.00021040223,0.00027124022,0.00041140587,0.00059930247,0.0028063757],"category_scores_gemma":[0.00011084527,0.00023330019,0.00038100794,0.00027245472,0.0003756253,0.000366013,0.00018616754,0.0013037676,0.00079794443],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00056193507,0.00020005985,0.0001816987,0.00006736747,0.000016877482,0.00011225435,0.00001717647,0.00008847353,0.99711597,0.00010221468,0.00021941497,0.0013165688],"study_design_scores_gemma":[0.00015918535,0.0020480887,0.0036075595,0.000021321139,0.000058932917,0.00034458982,0.000046211033,0.0010952775,0.9902614,0.0000886283,0.002259896,0.000009098676],"about_ca_topic_score_codex":0.00093441666,"about_ca_topic_score_gemma":0.0018121325,"teacher_disagreement_score":0.0028063757,"about_ca_system_score_codex":0.00046823366,"about_ca_system_score_gemma":0.00037307898,"threshold_uncertainty_score":0.009388208},"labels":[],"label_agreement":null},{"id":"W2133640184","doi":"10.1186/s13023-014-0180-y","title":"Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":45,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Instituto de Salud Carlos III; Canadian Institutes of Health Research; Directorate for Biological Sciences; MPS España; Universitat de Barcelona; Ministerio de Ciencia e Innovación; Fundação para a Ciência e a Tecnologia; Nanyang Technological University; International Business Machines Corporation","keywords":"RNA splicing; splice; Biology; Mutation; Mutant; Splice site mutation; Prp24; Protein splicing; Genetics; Mutant protein; RNA; Gene; Cell biology","score_opus":0.028396623919607712,"score_gpt":0.31353851408389627,"score_spread":0.28514189016428854,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2133640184","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.97265166,0.014277662,0.00901417,0.00027366524,0.00020574112,0.00027320808,0.00018813525,0.00025087295,0.002865033],"genre_scores_gemma":[0.980373,0.006888414,0.01043207,0.00017151066,0.00005103521,0.00019298916,0.00027321753,0.000040831786,0.001576863],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.9998925,0.000018960773,0.000010715535,0.000023051229,0.000027553424,0.000027262791],"domain_scores_gemma":[0.99993837,0.000010781899,0.000021549376,0.0000060496777,0.000007870157,0.000015296602],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00019220056,0.00052920624,0.00051079196,0.00035145937,0.00017603992,0.00023531188,0.00031533587,0.0005117213,0.0009330955],"category_scores_gemma":[0.00012605678,0.00009046041,0.00037226878,0.00021258794,0.0002492924,0.00014397471,0.00020062983,0.0005624434,0.00022366915],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010142383,0.00050932786,0.00037336358,0.00034820585,0.000077744335,0.0007455648,0.00005943926,0.0008533029,0.95762247,0.0005969788,0.00041571955,0.037383594],"study_design_scores_gemma":[0.00035580897,0.006035352,0.0016616146,0.00004975717,0.00017010082,0.0017652019,0.000041693103,0.0016338859,0.9725627,0.00020434085,0.015493734,0.00002577882],"about_ca_topic_score_codex":0.0003898747,"about_ca_topic_score_gemma":0.00077298225,"teacher_disagreement_score":0.0009330955,"about_ca_system_score_codex":0.0002639863,"about_ca_system_score_gemma":0.00018537327,"threshold_uncertainty_score":0.0031214952},"labels":[],"label_agreement":null},{"id":"W2134322573","doi":"10.1186/1750-1172-6-61","title":"Reducing selection bias in case-control studies from rare disease registries","year":2011,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":35,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Shire; Amicus Therapeutics; Sanofi","keywords":"Odds ratio; Information bias; Propensity score matching; Observational study; Matching (statistics); Medicine; Selection bias; Confidence interval; Case-control study; Clinical trial; Internal medicine; Pathology","score_opus":0.07254281188451406,"score_gpt":0.3230729157101866,"score_spread":0.25053010382567253,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2134322573","genre_codex":"methods","genre_gemma":"methods","domain_codex":"methods","domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"methods","genre_consensus":"methods","domain_candidate":"methods","domain_consensus":"methods","prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.1175216,0.0080131795,0.84436005,0.0023786884,0.0011862704,0.019842796,0.001215349,0.00068551867,0.004796637],"genre_scores_gemma":[0.56476617,0.0019341734,0.40686852,0.0018375112,0.0007783176,0.021660047,0.0012578318,0.0002330568,0.0006644098],"study_design_codex":"observational","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.23302883,0.69790816,0.03265022,0.0130306175,0.021616252,0.001765938],"domain_scores_gemma":[0.22053444,0.63878214,0.050046884,0.07156299,0.017842034,0.0012314989],"candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.5176343,0.002125666,0.004438931,0.010355316,0.0022326356,0.0041700266,0.0046864594,0.0040280162,0.002944471],"category_scores_gemma":[0.7560491,0.0021553298,0.006191819,0.010179147,0.004000035,0.0036552278,0.0064766514,0.0021309005,0.0006415998],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0069396184,0.00088427874,0.554266,0.011369412,0.028509201,0.0018967574,0.0085430145,0.017203597,0.0029264498,0.03037218,0.0061814077,0.3309083],"study_design_scores_gemma":[0.013891417,0.010760623,0.5661667,0.011660138,0.03569607,0.0059105786,0.003397821,0.1230214,0.01603247,0.14935422,0.06311269,0.0009958748],"about_ca_topic_score_codex":0.0020845989,"about_ca_topic_score_gemma":0.001699375,"teacher_disagreement_score":0.48236573,"about_ca_system_score_codex":0.0016383344,"about_ca_system_score_gemma":0.00533214,"threshold_uncertainty_score":0.59484285},"labels":[],"label_agreement":null},{"id":"W2138034498","doi":"10.1186/1750-1172-8-12","title":"Disease and patient characteristics in NP-C patients: findings from an international disease registry","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":197,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Actelion Pharmaceuticals","keywords":"Medicine; Pediatrics; Disease; Niemann–Pick disease, type C; Age of onset; Cohort; Enzyme replacement therapy; Natural history study; Newborn screening; Family history; Internal medicine","score_opus":0.010607522807913473,"score_gpt":0.27039069296484836,"score_spread":0.25978317015693486,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2138034498","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9966486,0.00013397538,0.00008382725,0.000046652047,0.0000037819325,0.00002973875,0.002040092,0.00000520792,0.0010081121],"genre_scores_gemma":[0.99709606,0.00013094784,0.00019234231,0.000037735997,0.0000068201284,0.000044049324,0.0024013862,0.0000047413746,0.000085964624],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9987331,0.00026815507,0.00028905852,0.0003038184,0.00024757732,0.0001583303],"domain_scores_gemma":[0.99374515,0.0010004569,0.0034919544,0.0004427151,0.0006101372,0.0007096894],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0017505025,0.00016765289,0.00035361957,0.0016037937,0.0005623834,0.00091633684,0.00042736085,0.0003422476,0.001358614],"category_scores_gemma":[0.005506869,0.00013958734,0.0002697928,0.0030525476,0.00035481298,0.00067619875,0.00091488037,0.00041548628,0.00026431066],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000047405043,0.000016932636,0.99853957,0.000007908938,0.0000075236135,0.00007086405,0.00013850632,0.000022040116,0.000073956886,0.000015326377,0.00013700605,0.0009229155],"study_design_scores_gemma":[0.0000052941377,0.000048639988,0.99829835,0.000010581981,0.000011269875,0.00060146203,0.00043798165,0.00008394728,0.000051298328,0.000012690653,0.00043320653,0.0000053380218],"about_ca_topic_score_codex":0.0060015363,"about_ca_topic_score_gemma":0.00507527,"teacher_disagreement_score":0.0060015363,"about_ca_system_score_codex":0.0004343588,"about_ca_system_score_gemma":0.0008405749,"threshold_uncertainty_score":0.0119332075},"labels":[],"label_agreement":null},{"id":"W2139525849","doi":"10.1186/1750-1172-2-49","title":"Alstrom syndrome (OMIM 203800): a case report and literature review","year":2007,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":89,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Western University","funders":"","keywords":"Hyperinsulinemia; Medicine; Hypertriglyceridemia; Genetics; Context (archaeology); Type 2 diabetes; Disease; Obesity; Bioinformatics; Diabetes mellitus; Endocrinology; Internal medicine; Biology; Insulin resistance","score_opus":0.016181025043974614,"score_gpt":0.3136850126754555,"score_spread":0.2975039876314809,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2139525849","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.05186645,0.9280415,0.0020063107,0.0030156632,0.0020411557,0.0001527396,0.0006605481,0.00022214156,0.0119934315],"genre_scores_gemma":[0.21085505,0.77187055,0.0030780826,0.0029317776,0.0061701187,0.00013149757,0.0013522197,0.00005381303,0.0035569158],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.99948764,0.000048419526,0.00018750544,0.00011081649,0.000079222424,0.00008629631],"domain_scores_gemma":[0.9992988,0.00021145935,0.00027076126,0.000029743249,0.00008150423,0.000107729946],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00031260957,0.0015293472,0.001448498,0.010926186,0.0011921608,0.0015508499,0.0015271781,0.0025440243,0.0038993426],"category_scores_gemma":[0.00086302386,0.00048356366,0.00079452444,0.007764896,0.0011628052,0.0024168992,0.0013195826,0.0012103919,0.0016924234],"study_design_candidate":"case_report","study_design_consensus":"case_report","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00008375912,0.00014540176,0.010956907,0.0075222244,0.00018026456,0.7841774,0.0008274316,0.00037300424,0.0035755206,0.0011374988,0.029364314,0.16165622],"study_design_scores_gemma":[0.000010353768,0.000032891654,0.005388347,0.0015652424,0.0001768072,0.94496506,0.00049469643,0.00010785356,0.00039488793,0.00049956236,0.046327524,0.00003672918],"about_ca_topic_score_codex":0.0009936435,"about_ca_topic_score_gemma":0.0013943181,"teacher_disagreement_score":0.010926186,"about_ca_system_score_codex":0.00070870534,"about_ca_system_score_gemma":0.0009281625,"threshold_uncertainty_score":0.013044596},"labels":[],"label_agreement":null},{"id":"W2139604507","doi":"10.1186/1750-1172-9-s1-p13","title":"Evolution of national and European policies in the field of rare diseases and their impact over the past five years","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"European Organisation for Rare Diseases; Institut National de la Santé et de la Recherche Médicale; European Commission","keywords":"Human genetics; Field (mathematics); Orphan drug; Political science; Medicine; Biology; Bioinformatics; Genetics","score_opus":0.0045989801847022855,"score_gpt":0.24018386671818046,"score_spread":0.23558488653347817,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2139604507","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.10923919,0.18553664,0.011862169,0.47155464,0.019542104,0.00029302938,0.006608739,0.00096912176,0.19439444],"genre_scores_gemma":[0.60240465,0.07938683,0.042375643,0.20459273,0.00526674,0.0005642649,0.007449455,0.00070528977,0.05725444],"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"observational","domain_scores_codex":[0.95499086,0.0109081,0.0049806572,0.005326574,0.016699439,0.0070944116],"domain_scores_gemma":[0.93653804,0.01886316,0.011808548,0.0035911729,0.014810257,0.014388768],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.054234914,0.0008519645,0.0011884685,0.0048270063,0.003136031,0.020732215,0.0035413187,0.011803384,0.009102548],"category_scores_gemma":[0.08276015,0.0008627677,0.0012754495,0.014319891,0.007709114,0.008993904,0.008817587,0.008346388,0.00209883],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00039738952,0.0002774882,0.013269573,0.0024525037,0.0002002246,0.000654746,0.005864482,0.0023479422,0.0008655656,0.5823203,0.13119495,0.26015484],"study_design_scores_gemma":[0.00006838796,0.00013063983,0.051703926,0.0037137158,0.00006361027,0.00056988373,0.0059008454,0.0005780251,0.0007746273,0.01916179,0.91716635,0.00016823255],"about_ca_topic_score_codex":0.033331506,"about_ca_topic_score_gemma":0.020953013,"teacher_disagreement_score":0.054234914,"about_ca_system_score_codex":0.025549859,"about_ca_system_score_gemma":0.038075704,"threshold_uncertainty_score":0.28682506},"labels":[],"label_agreement":null},{"id":"W2141636439","doi":"10.1186/1750-1172-5-24","title":"Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers","year":2010,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Pancreatic function and diabetes","field":"Medicine","cited_by":144,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research","keywords":"Failure to thrive; Medicine; Hypocholesterolemia; Gastroenterology; Internal medicine; Malabsorption; Pediatrics; Cholesterol","score_opus":0.045548113975651394,"score_gpt":0.35270303396050035,"score_spread":0.30715491998484895,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2141636439","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.007989765,0.8340038,0.059149418,0.056013085,0.007986196,0.0014062603,0.0020611542,0.0013293264,0.030060962],"genre_scores_gemma":[0.031513818,0.67294335,0.2502045,0.021786625,0.005583377,0.002084669,0.005804545,0.0002891527,0.009789931],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.99832135,0.00047719394,0.00061952864,0.00014654639,0.00035035162,0.00008499575],"domain_scores_gemma":[0.9972077,0.00070131844,0.00038044443,0.00008688737,0.0013340542,0.0002896682],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0023069035,0.0017324646,0.0011467919,0.0060443096,0.0010584056,0.0010793174,0.0021455348,0.0028192718,0.003680084],"category_scores_gemma":[0.004713669,0.00030448553,0.0013520805,0.0029274083,0.0008020355,0.0017606734,0.0013550067,0.0029927164,0.0031555118],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00010265742,0.00029598302,0.007241367,0.0066552334,0.00010462856,0.009585991,0.0007265027,0.0013251881,0.0021681907,0.0031593745,0.2402374,0.7283974],"study_design_scores_gemma":[0.00011927677,0.00023196591,0.016737336,0.033757556,0.00052273954,0.059349142,0.0018823544,0.0014190094,0.0011609441,0.008694078,0.8759311,0.00019448469],"about_ca_topic_score_codex":0.0035319552,"about_ca_topic_score_gemma":0.0054421467,"teacher_disagreement_score":0.0060443096,"about_ca_system_score_codex":0.0013837058,"about_ca_system_score_gemma":0.0025904458,"threshold_uncertainty_score":0.012311101},"labels":[],"label_agreement":null},{"id":"W2142612491","doi":"10.1186/1750-1172-7-90","title":"Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":72,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University; Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Institute of Genetics; University of Toronto; Université de Montréal; Genome British Columbia; Canadian Institutes of Health Research; Ontario Genomics; Genome Canada; Government of Canada; McGill University; Ontario Genomics Institute; University of Ottawa","keywords":"Compound heterozygosity; Exome sequencing; Biology; Sanger sequencing; Hypotonia; Newborn screening; Endocrinology; Dehydrogenase; Retinitis pigmentosa; Internal medicine; Genetics; Mutation; Biochemistry; Medicine; Gene; Enzyme","score_opus":0.01320355071212765,"score_gpt":0.24174952737076505,"score_spread":0.2285459766586374,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2142612491","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9911561,0.0010499918,0.003284567,0.000113539085,0.00005902015,0.0000870982,0.0015775433,0.0001422613,0.002529795],"genre_scores_gemma":[0.99032927,0.0006570001,0.0032456422,0.000104418796,0.00006596963,0.00004249748,0.0019054197,0.000057797013,0.0035920436],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.99965763,0.000026510574,0.00004258608,0.00014868908,0.000060682498,0.00006400883],"domain_scores_gemma":[0.99963427,0.00007391605,0.00012398907,0.000032839733,0.000031570708,0.00010341285],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00015500277,0.0013590889,0.00073499687,0.0012606255,0.00046929423,0.00050777424,0.00066083716,0.0007197284,0.0028589827],"category_scores_gemma":[0.0005409956,0.00042504544,0.0005429674,0.0008309749,0.0007579272,0.00022291971,0.0009541265,0.0006388391,0.00079851906],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0025825107,0.00038776378,0.3526298,0.00031828028,0.00035619803,0.37869227,0.001143829,0.00063343847,0.20480447,0.0015900322,0.0036927194,0.05316879],"study_design_scores_gemma":[0.00013152325,0.00051096454,0.15988502,0.000040020277,0.00016467788,0.81019557,0.00032163298,0.000498794,0.016134495,0.00038724765,0.01168736,0.0000425759],"about_ca_topic_score_codex":0.0017941446,"about_ca_topic_score_gemma":0.0019645623,"teacher_disagreement_score":0.0028589827,"about_ca_system_score_codex":0.00033452822,"about_ca_system_score_gemma":0.00037776178,"threshold_uncertainty_score":0.0095642805},"labels":[],"label_agreement":null},{"id":"W2144428362","doi":"10.1186/s13023-015-0284-z","title":"Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":98,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; Actelion Pharmaceuticals; Boettcher Foundation","keywords":"Medicine; Disease; Observational study; Enzyme replacement therapy; Cohort; Pediatrics; Niemann–Pick disease, type C; Cohort study; Patient registry; Internal medicine; Intensive care medicine","score_opus":0.0823168365513184,"score_gpt":0.3434039763164365,"score_spread":0.2610871397651181,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2144428362","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99883777,0.00012839634,0.00005942393,0.000014169542,0.0000029530468,0.000041007774,0.0007148695,0.0000025211023,0.00019882034],"genre_scores_gemma":[0.99771345,0.000116943454,0.00012208112,0.000040075178,0.000008757202,0.000061297214,0.0018470869,0.0000035108017,0.000086769505],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9987452,0.00024015564,0.00014839052,0.00042326906,0.00021639508,0.00022652914],"domain_scores_gemma":[0.9969537,0.00034966954,0.0016016046,0.0003730806,0.000301898,0.0004200627],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0016464195,0.0003992789,0.0008785077,0.0007932985,0.0008371689,0.001176284,0.0006456579,0.00057148695,0.001015035],"category_scores_gemma":[0.003266603,0.0004276168,0.0007455429,0.0015917562,0.0004674392,0.00071905693,0.00079413154,0.0009481754,0.00030280967],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0006133508,0.00006640948,0.9979233,0.000016658307,0.00008824354,0.00012876833,0.00016947421,0.000026248168,0.0001355314,0.000010583899,0.00013429369,0.0006871297],"study_design_scores_gemma":[0.00007044529,0.00030239642,0.9982901,0.0000150420265,0.00009328684,0.00044470976,0.00026346123,0.0001465373,0.000048169386,0.000014403266,0.00030063002,0.000010692609],"about_ca_topic_score_codex":0.013619452,"about_ca_topic_score_gemma":0.016114732,"teacher_disagreement_score":0.013619452,"about_ca_system_score_codex":0.0009729883,"about_ca_system_score_gemma":0.0012024678,"threshold_uncertainty_score":0.027080357},"labels":[],"label_agreement":null},{"id":"W2145413800","doi":"10.1186/1750-1172-8-180","title":"Funding innovation for treatment for rare diseases: adopting a cost-based yardstick approach","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":35,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Calgary","funders":"Canadian Institutes of Health Research","keywords":"Yardstick; Human genetics; Business; Biology; Genetics","score_opus":0.3012192337816288,"score_gpt":0.40771270632644646,"score_spread":0.10649347254481767,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2145413800","genre_codex":"methods","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.02622652,0.00076994335,0.9549046,0.003563358,0.00022082715,0.0005813417,0.000266264,0.0004164595,0.013050709],"genre_scores_gemma":[0.7701788,0.0010798986,0.2162246,0.00089742744,0.000309407,0.0007622195,0.00019176865,0.00013315491,0.01022265],"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.9684794,0.022779888,0.00077975687,0.0020394407,0.0046385746,0.0012829384],"domain_scores_gemma":[0.9559155,0.03327554,0.0038952949,0.0032624623,0.0029914833,0.00065964786],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.04222754,0.001477665,0.002676139,0.0038144377,0.00082090625,0.0054147164,0.0043272614,0.0041932305,0.005988891],"category_scores_gemma":[0.10141537,0.0011326985,0.0024314818,0.0035783043,0.004025175,0.006653865,0.002756247,0.0049338,0.00077037537],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00020144839,0.0001331615,0.0023294017,0.00022552641,0.00019424451,0.0001316596,0.00016480089,0.440707,0.00028409573,0.48600608,0.0035812296,0.06604131],"study_design_scores_gemma":[0.00009478705,0.00023203225,0.0010450464,0.00014015033,0.000102190876,0.00011774049,0.00007318598,0.7540023,0.00035492828,0.23928925,0.0044662864,0.000082152466],"about_ca_topic_score_codex":0.007837751,"about_ca_topic_score_gemma":0.0052293874,"teacher_disagreement_score":0.04222754,"about_ca_system_score_codex":0.008293955,"about_ca_system_score_gemma":0.006186129,"threshold_uncertainty_score":0.22332323},"labels":[],"label_agreement":null},{"id":"W2149271277","doi":"10.1186/1750-1172-7-70","title":"Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":32,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Alberta Children's Hospital; University of British Columbia; Cape Breton Regional Hospital; Rare Disease Foundation; University of Alberta; Children's & Women's Health Centre of British Columbia","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Michael Smith Health Research BC; Gillson Longenbaugh Foundation; Canadian Institutes of Health Research; Dana Foundation; Institute of Human Development, Child and Youth Health; Hospital for Sick Children; National Institutes of Health; March of Dimes Foundation","keywords":"Elastin; Medicine; Arteriosclerosis; Pathology; Hyperplasia; Aorta; Lung; Internal medicine","score_opus":0.009483637634179556,"score_gpt":0.22707399888252583,"score_spread":0.21759036124834627,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2149271277","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99442154,0.0029598153,0.0007224245,0.0004279754,0.000022379507,0.000008321456,0.000108245564,0.000026324275,0.0013029672],"genre_scores_gemma":[0.99876934,0.0005342064,0.00031220034,0.000081153135,0.000031018863,0.0000029608866,0.00005617723,0.000002807908,0.00020997533],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9999378,0.000009583415,0.00000886879,0.000015591288,0.00001197542,0.000016285963],"domain_scores_gemma":[0.9997485,0.000065363,0.000090234156,0.000024025006,0.000025064433,0.000046809473],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00015779531,0.00020559141,0.00016214086,0.0006740293,0.00020055752,0.00016389672,0.00021654552,0.00053045515,0.0016514733],"category_scores_gemma":[0.00057328976,0.000080033955,0.00010139259,0.00026311664,0.0006927642,0.00020958534,0.00017179859,0.00027170428,0.00021661138],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00074077205,0.00007509289,0.83104175,0.0002589918,0.000060636605,0.063302554,0.00057577225,0.00016387815,0.06494217,0.0016522643,0.001129624,0.036056425],"study_design_scores_gemma":[0.00004289644,0.0003194109,0.6637808,0.00011169101,0.00007689218,0.31120917,0.00071585114,0.0006763832,0.014358154,0.0022367374,0.006450118,0.000021889122],"about_ca_topic_score_codex":0.0004126455,"about_ca_topic_score_gemma":0.00068253285,"teacher_disagreement_score":0.0016514733,"about_ca_system_score_codex":0.00012074332,"about_ca_system_score_gemma":0.0001194847,"threshold_uncertainty_score":0.005524695},"labels":[],"label_agreement":null},{"id":"W2149281893","doi":"10.1186/s13023-014-0174-9","title":"Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Canadian Nautical Research Society","funders":"CHIST-ERA; Fondation Roger de Spoelberch; Centre National de la Recherche Scientifique; Université Paris Diderot; Agence Nationale de la Recherche; Fonds De La Recherche Scientifique - FNRS; Institut National de la Santé et de la Recherche Médicale; Université Pierre et Marie Curie; Strong; Stiftung VERUM","keywords":"Missense mutation; Exome sequencing; Biology; Mutation; Dystonia; Disease gene identification; Genetics; Cardiomyopathy; Atrophy; Nonsense mutation; Medicine; Internal medicine; Gene; Neuroscience","score_opus":0.0029484352592769277,"score_gpt":0.19792626298278992,"score_spread":0.194977827723513,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2149281893","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9956216,0.0011819543,0.0010016628,0.00022026729,0.000040795745,0.000055905894,0.0005933411,0.000087373126,0.0011969423],"genre_scores_gemma":[0.9975249,0.00045441356,0.0008591163,0.00009174531,0.00006429445,0.000018693272,0.0004548619,0.000016250975,0.00051555707],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.99976426,0.000021392394,0.00004074729,0.000088622684,0.000040739018,0.000044238695],"domain_scores_gemma":[0.9995702,0.000098962955,0.000187404,0.00001881241,0.000019726298,0.00010478191],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00017991988,0.0017771925,0.0006114402,0.0009078493,0.0007388921,0.00032593045,0.0004217355,0.0012644953,0.0022890584],"category_scores_gemma":[0.0004858588,0.00034467096,0.00044874314,0.0007233632,0.00059548736,0.00023245245,0.00055848685,0.00059091736,0.00049120164],"study_design_candidate":"case_report","study_design_consensus":"case_report","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0007906254,0.00016308182,0.040812112,0.0003762843,0.00016193559,0.7962435,0.00035525623,0.0003592794,0.15340886,0.0002668357,0.0008433397,0.006218979],"study_design_scores_gemma":[0.000096322605,0.00048154296,0.121660635,0.00005256849,0.00018168477,0.8598395,0.00011626904,0.0006290014,0.01526432,0.00016630773,0.0014796301,0.00003222473],"about_ca_topic_score_codex":0.0006253651,"about_ca_topic_score_gemma":0.00097278116,"teacher_disagreement_score":0.0022890584,"about_ca_system_score_codex":0.00037369,"about_ca_system_score_gemma":0.00024862873,"threshold_uncertainty_score":0.007657647},"labels":[],"label_agreement":null},{"id":"W2149530907","doi":"10.1186/1750-1172-7-47","title":"The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Stichting Metakids","keywords":"Intellectual disability; Medicine; Disease; Population; Protocol (science); MEDLINE; Newborn screening; Rare disease; Pediatrics; Bioinformatics; Intensive care medicine; Pathology; Alternative medicine; Psychiatry; Biology","score_opus":0.010049306085668844,"score_gpt":0.26985281559133706,"score_spread":0.2598035095056682,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2149530907","genre_codex":"dataset","genre_gemma":"software","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"software","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.01795963,0.033384986,0.030943915,0.0510427,0.0052819164,0.0051072324,0.48139897,0.09212408,0.28275654],"genre_scores_gemma":[0.084822305,0.058284972,0.26541302,0.05741752,0.011143288,0.014225282,0.2758617,0.013317927,0.21951406],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9989686,0.00033580055,0.000196877,0.00008192469,0.0003296764,0.00008720705],"domain_scores_gemma":[0.98306125,0.01161856,0.0020797276,0.0005230909,0.0015294692,0.0011878993],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002053981,0.0009326973,0.0009794683,0.005205166,0.0004916633,0.0028147413,0.0010444501,0.0019852463,0.19740888],"category_scores_gemma":[0.016156245,0.00042527178,0.0012763628,0.0028614004,0.00024140191,0.0032393178,0.0035735606,0.0012848782,0.06738002],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00021802266,0.00006192774,0.0010304257,0.0043186466,0.00007338478,0.0002413125,0.00019698624,0.0000744059,0.00027913353,0.0008042853,0.76403505,0.22866653],"study_design_scores_gemma":[0.00049294415,0.00013972318,0.0077457502,0.0050138207,0.00022241587,0.0012591617,0.0003136438,0.0003716455,0.0007107635,0.00399419,0.97963804,0.000097826174],"about_ca_topic_score_codex":0.0012883843,"about_ca_topic_score_gemma":0.0046630376,"teacher_disagreement_score":0.19740888,"about_ca_system_score_codex":0.00074290315,"about_ca_system_score_gemma":0.0016093036,"threshold_uncertainty_score":0.6603985},"labels":[],"label_agreement":null},{"id":"W2150850867","doi":"10.1186/1750-1172-9-94","title":"Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders","year":2014,"lang":"en","type":"letter","venue":"Orphanet Journal of Rare Diseases","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":23,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; Child and Family Research Institute; Children's & Women's Health Centre of British Columbia; University of British Columbia","funders":"Canadian Child Health Clinician Scientist Program; Rare Disease Foundation; Child and Family Research Institute","keywords":"Dysgenesis; Proband; Corpus callosum; Failure to thrive; Abnormality; Genetics; Phenotype; Mutation; Spasticity; Heterozygote advantage; Biology; Medicine; Endocrinology; Internal medicine; Allele; Neuroscience; Gene; Psychiatry","score_opus":0.019117124060153,"score_gpt":0.25880280653615445,"score_spread":0.23968568247600144,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2150850867","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.25891393,0.029419808,0.013005178,0.5914413,0.017769067,0.00034209917,0.00033106992,0.0006602139,0.08811738],"genre_scores_gemma":[0.8445243,0.0141031435,0.009432433,0.0730112,0.04633957,0.00014492203,0.00011131465,0.000116417585,0.012216683],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.99915016,0.00025768182,0.00010028596,0.00014094116,0.000157355,0.0001935468],"domain_scores_gemma":[0.9975062,0.0016191276,0.00025594106,0.00013401038,0.00019860736,0.00028625847],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008177562,0.0012652298,0.0011202733,0.0017925772,0.0017353129,0.0014635156,0.0011389843,0.011203955,0.0025570174],"category_scores_gemma":[0.006796672,0.0005852389,0.00064110046,0.0009036074,0.0022032137,0.002003671,0.0017395514,0.006517004,0.0010798048],"study_design_candidate":"case_report","study_design_consensus":"case_report","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000060800558,0.000018675142,0.0016850377,0.000055484223,0.0000060986827,0.98053104,0.0003031048,0.00011573371,0.0008061586,0.0026530735,0.009076301,0.0046885405],"study_design_scores_gemma":[0.000029193661,0.000021062046,0.00072433526,0.00006263272,0.00000913026,0.98673534,0.00017129765,0.00046498564,0.00026729063,0.0020641093,0.009440642,0.000009953769],"about_ca_topic_score_codex":0.0011930083,"about_ca_topic_score_gemma":0.0013136963,"teacher_disagreement_score":0.011203955,"about_ca_system_score_codex":0.0017642775,"about_ca_system_score_gemma":0.0005694692,"threshold_uncertainty_score":0.012800813},"labels":[],"label_agreement":null},{"id":"W2151372200","doi":"10.1186/1750-1172-7-67","title":"Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":159,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Ottawa Hospital; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"Institute of Genetics; Canadian Institutes of Health Research","keywords":"Spinocerebellar ataxia; Missense mutation; Genetics; Biology; Cerebellar ataxia; Ataxia; Mutation; Neuroscience; Gene","score_opus":0.024917100116782,"score_gpt":0.28602343057062696,"score_spread":0.26110633045384496,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2151372200","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99531484,0.0004864268,0.00084002386,0.00009741543,0.000014928929,0.00003732565,0.00027140477,0.0001071062,0.0028305203],"genre_scores_gemma":[0.9977416,0.00023383427,0.00082528807,0.000067674424,0.000010467509,0.0000062041067,0.00018570742,0.00001704777,0.00091222563],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.9998418,0.0000065413533,0.000010682363,0.000035670993,0.00006595277,0.000039295122],"domain_scores_gemma":[0.9997795,0.000047077207,0.000062513536,0.00001329138,0.00003488087,0.00006263217],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00010596507,0.0009514322,0.00025515817,0.0003668479,0.0005613589,0.00020483653,0.0004946013,0.00062468037,0.0019317074],"category_scores_gemma":[0.00044900543,0.00013303876,0.00024168771,0.0004702503,0.00051598845,0.00010038091,0.00033901824,0.00037722918,0.00037544593],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00045718212,0.0001799447,0.09849217,0.0004067146,0.00017476786,0.5753815,0.0020503409,0.00085020496,0.28648067,0.00080973614,0.0024148184,0.032301933],"study_design_scores_gemma":[0.00012459897,0.00044795693,0.39306098,0.00007343057,0.00026168974,0.5627832,0.0004962171,0.0015095936,0.03400308,0.00030414047,0.0068867207,0.000048464575],"about_ca_topic_score_codex":0.04597009,"about_ca_topic_score_gemma":0.08077201,"teacher_disagreement_score":0.04597009,"about_ca_system_score_codex":0.00096188573,"about_ca_system_score_gemma":0.0009903187,"threshold_uncertainty_score":0.091405034},"labels":[],"label_agreement":null},{"id":"W2151533904","doi":"10.1186/1750-1172-7-59","title":"Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":78,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Disease gene identification; Retinitis pigmentosa; Genetics; Usher syndrome; Genetic heterogeneity; Nonsense mutation; Exome sequencing; Biology; Ataxia; Mutation; Hearing loss; Phenotype; Medicine; Gene; Missense mutation; Audiology","score_opus":0.1333730565187752,"score_gpt":0.32619868641140004,"score_spread":0.19282562989262483,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2151533904","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99855155,0.00013569435,0.000798365,0.000058518188,0.000008129782,0.000015735124,0.0001636827,0.000026738207,0.00024160647],"genre_scores_gemma":[0.9981785,0.000087531116,0.0012271055,0.00009008145,0.000009976448,0.000010490304,0.00014493811,0.000012719468,0.00023855726],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99982375,0.000018318024,0.000018972367,0.000061086874,0.000048176124,0.00002978329],"domain_scores_gemma":[0.9997236,0.00013706168,0.000042070642,0.000010975589,0.00003082842,0.000055360233],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00017156891,0.0005945051,0.0003235765,0.0008933997,0.0005526775,0.0002898686,0.00029051764,0.0009675131,0.0013020668],"category_scores_gemma":[0.0005784577,0.00018615244,0.0003400688,0.00032710028,0.00031886203,0.00007037933,0.0002306769,0.0003539773,0.00023454247],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00062999775,0.00025418043,0.12671262,0.00013126155,0.00011434051,0.2949411,0.0017592332,0.00066170446,0.5566909,0.00026104078,0.000526542,0.017317118],"study_design_scores_gemma":[0.00016556517,0.00075070094,0.47476318,0.000063327614,0.00027253095,0.39819187,0.0006303397,0.005811555,0.115883335,0.00026416394,0.0031470433,0.0000563564],"about_ca_topic_score_codex":0.0029960505,"about_ca_topic_score_gemma":0.0037577606,"teacher_disagreement_score":0.0029960505,"about_ca_system_score_codex":0.00027502308,"about_ca_system_score_gemma":0.00020722885,"threshold_uncertainty_score":0.005957246},"labels":[],"label_agreement":null},{"id":"W2152064075","doi":"10.1186/1750-1172-8-117","title":"Genotype-phenotype correlations in recessive RYR1-related myopathies","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":126,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McMaster University Medical Centre","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Health and Medical Research Council; Medical Research Council; National Institutes of Health","keywords":"RYR1; Congenital myopathy; Missense mutation; Genetics; Central core disease; Biology; Phenotype; Genotype; Myopathy; Malignant hyperthermia; Mutation; Human genetics; Genotype-phenotype distinction; Gene; Pathology; Medicine; Muscle biopsy; Biopsy","score_opus":0.0076363989689979435,"score_gpt":0.22984963683955278,"score_spread":0.22221323787055483,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2152064075","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9992181,0.00020858404,0.00024139682,0.000008753245,0.000002620065,0.0000059361664,0.00008798821,0.000007532698,0.00021902281],"genre_scores_gemma":[0.99947804,0.000052525473,0.00022274551,0.000006461726,0.0000059730373,0.0000059866325,0.0001618471,0.000005943433,0.000060567654],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9991454,0.00020153994,0.00011654551,0.00029389485,0.00015350066,0.000089181296],"domain_scores_gemma":[0.99710375,0.0011974364,0.00093948917,0.00025476966,0.00024979858,0.0002546941],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001031627,0.0005141407,0.00051923457,0.0015688295,0.00030917523,0.00041544074,0.00032887948,0.00046921015,0.0020810042],"category_scores_gemma":[0.003836602,0.00019645595,0.00027191133,0.00065968785,0.00035319707,0.00030448494,0.00060849974,0.0003094843,0.000421167],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00019886048,0.000023939881,0.9911855,0.000016712444,0.000046322843,0.0010596819,0.0000919479,0.0000843208,0.0046891593,0.000015893393,0.000048249694,0.0025395015],"study_design_scores_gemma":[0.0000068564254,0.00022629852,0.9906667,0.000005805497,0.00007149065,0.0074131256,0.000096439915,0.00027520614,0.001028079,0.000058574205,0.0001447199,0.000006670098],"about_ca_topic_score_codex":0.00030895014,"about_ca_topic_score_gemma":0.00042331478,"teacher_disagreement_score":0.0020810042,"about_ca_system_score_codex":0.00011982483,"about_ca_system_score_gemma":0.000114096605,"threshold_uncertainty_score":0.0069616437},"labels":[],"label_agreement":null},{"id":"W2156778740","doi":"10.1186/s13023-014-0141-5","title":"Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University; University of British Columbia; Hospital for Sick Children; Child and Family Research Institute; B.C. Women's Hospital & Health Centre; BC Children's Hospital","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research; National Institutes of Health; Children's Hospital Foundation","keywords":"Missense mutation; Biology; Exome sequencing; Nonsense mutation; Endocrinology; Mutation; Internal medicine; Point mutation; Cell biology; Molecular biology; Genetics; Cancer research; Medicine; Gene","score_opus":0.009423751544779658,"score_gpt":0.22791709382219957,"score_spread":0.21849334227741993,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2156778740","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9942987,0.0011346634,0.000893806,0.00068937277,0.00008960954,0.00003057584,0.0005224529,0.0000944443,0.0022463088],"genre_scores_gemma":[0.99745184,0.0003364804,0.00046276124,0.00018802563,0.000054800832,0.0000068167014,0.00020452915,0.000018363542,0.0012763155],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9998841,0.000007120524,0.0000149570715,0.000042692845,0.000020254525,0.00003086391],"domain_scores_gemma":[0.9998267,0.000037263966,0.0000412042,0.0000058446226,0.0000126267205,0.00007629527],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00010693803,0.0010967077,0.00046088258,0.000981905,0.000518935,0.00029877486,0.0003692387,0.0016397631,0.0023052809],"category_scores_gemma":[0.0004065312,0.0002297125,0.00047047224,0.00030721072,0.00035913903,0.00030718,0.00044914478,0.00044489768,0.0006699603],"study_design_candidate":"case_report","study_design_consensus":"case_report","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00010011488,0.000035711702,0.007903227,0.000028271545,0.000013217779,0.9751002,0.0001364055,0.00007496871,0.01430816,0.00011956122,0.00027661803,0.0019034673],"study_design_scores_gemma":[0.000018374518,0.00017614248,0.023407687,0.000014003307,0.000028306997,0.96946543,0.00011132541,0.00034989713,0.005090211,0.000097835094,0.0012245411,0.000016255683],"about_ca_topic_score_codex":0.0013496252,"about_ca_topic_score_gemma":0.0014234192,"teacher_disagreement_score":0.0023052809,"about_ca_system_score_codex":0.00037373044,"about_ca_system_score_gemma":0.0002569545,"threshold_uncertainty_score":0.0077118874},"labels":[],"label_agreement":null},{"id":"W2158446821","doi":"10.1186/1750-1172-8-126","title":"A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":11,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Children’s Health Research Institute; Lawson Health Research Institute; Western University; Children's Hospital of Eastern Ontario; Robarts Clinical Trials; University of Ottawa; Hospital for Sick Children","funders":"Ontario Genomics Institute; Canadian Institutes of Health Research; Ontario Genomics; Lawson Health Research Institute; Genome Canada; Children's Health Research Institute; Heart and Stroke Foundation of Canada","keywords":"Mutation; Human genetics; Serine protease; Serine; TMPRSS6; Genetics; Protease; Medicine; Biology; Neuroscience; Biochemistry; Enzyme; Phosphorylation; Gene","score_opus":0.019642133575562982,"score_gpt":0.25706649879102694,"score_spread":0.23742436521546395,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2158446821","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99747676,0.0002706906,0.00086795684,0.00019154864,0.000019735699,0.000023373395,0.0001352771,0.000053635064,0.0009610471],"genre_scores_gemma":[0.9972818,0.00029442963,0.0015057038,0.00006788667,0.000038867885,0.00001463415,0.00017384492,0.000010806456,0.0006120356],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.99983,0.0000121845205,0.000016190617,0.000052548727,0.000051489507,0.000037482892],"domain_scores_gemma":[0.99974984,0.00005732123,0.00008200558,0.000009639594,0.000022322985,0.00007895227],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000174544,0.001214888,0.00040419798,0.0011050286,0.00082186266,0.00030855864,0.00044863127,0.0010048676,0.0017682575],"category_scores_gemma":[0.00060956285,0.0002706187,0.0003093362,0.0009439785,0.00068995374,0.00030434132,0.0006223423,0.0005632033,0.00022800089],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00014318379,0.000093954004,0.06025305,0.000109660716,0.000036127483,0.9016533,0.00062134373,0.0005787375,0.026195625,0.00083584426,0.0006051658,0.008874014],"study_design_scores_gemma":[0.000043832206,0.000326975,0.11101875,0.000029637855,0.00010349513,0.8785664,0.00019289336,0.0011719054,0.0059560034,0.0003540551,0.0022160474,0.000020002348],"about_ca_topic_score_codex":0.002035394,"about_ca_topic_score_gemma":0.0025684005,"teacher_disagreement_score":0.002035394,"about_ca_system_score_codex":0.00048638473,"about_ca_system_score_gemma":0.00067781506,"threshold_uncertainty_score":0.0059154034},"labels":[],"label_agreement":null},{"id":"W2158752749","doi":"10.1186/1750-1172-7-39","title":"A generalizable pre-clinical research approach for orphan disease therapy","year":2012,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Manitoba; Structural Genomics Consortium; Dalhousie University; University of Toronto; Université de Montréal; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Institute of Genetics; FightSMA; Ontario Genomics Institute; National Institute of General Medical Sciences; Canadian Institutes of Health Research; Ontario Genomics","keywords":"Orphan drug; Disease; Toolbox; Repurposing; Medicine; Identification (biology); Computational biology; Bioinformatics; Biology; Computer science; Pathology","score_opus":0.14727499039121308,"score_gpt":0.42620060075819144,"score_spread":0.2789256103669784,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2158752749","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0005441794,0.9233269,0.04003234,0.013662689,0.0036103863,0.00034693338,0.00019586498,0.00033030522,0.01795038],"genre_scores_gemma":[0.0052296664,0.9443987,0.036159754,0.005347148,0.001963513,0.0003606445,0.00028765426,0.00003951923,0.0062134834],"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.9987453,0.00041323982,0.00012617378,0.00018247859,0.00046414678,0.000068614405],"domain_scores_gemma":[0.9980106,0.0010880576,0.00013685045,0.00017459226,0.00045896744,0.00013096973],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0048611043,0.0015232865,0.001718608,0.0023766558,0.00036969373,0.0021277112,0.0022195124,0.0033123896,0.005527152],"category_scores_gemma":[0.0036279126,0.00045490332,0.0013244451,0.001308306,0.0021614549,0.002769846,0.0016491895,0.005918089,0.004567562],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00009241277,0.0002081833,0.00024963633,0.008406326,0.00008887707,0.00052398175,0.00010867743,0.0017821039,0.003873868,0.050659493,0.05385094,0.8801555],"study_design_scores_gemma":[0.000057953817,0.0001500415,0.0005253101,0.002513555,0.00005941762,0.0015990289,0.00006162819,0.0004813311,0.0013392126,0.019526139,0.9736553,0.00003111045],"about_ca_topic_score_codex":0.00093453645,"about_ca_topic_score_gemma":0.0012697829,"teacher_disagreement_score":0.005527152,"about_ca_system_score_codex":0.001964682,"about_ca_system_score_gemma":0.0031366975,"threshold_uncertainty_score":0.025708258},"labels":[],"label_agreement":null},{"id":"W2161333801","doi":"10.1186/1750-1172-7-12","title":"Gaucher disease and the synucleinopathies: refining the relationship","year":2012,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Victoria","funders":"","keywords":"Glucocerebrosidase; Synucleinopathies; Hepatosplenomegaly; Disease; Missense mutation; Enzyme replacement therapy; Gaucher's disease; Medicine; Phenotype; Alpha-synuclein; Bioinformatics; Biology; Internal medicine; Genetics; Parkinson's disease; Gene","score_opus":0.0818102436541398,"score_gpt":0.35176446917034804,"score_spread":0.26995422551620823,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2161333801","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00012741606,0.99895835,0.00004269312,0.00032068614,0.00011461897,0.0000013682334,0.000004291279,0.0000018082222,0.00042887262],"genre_scores_gemma":[0.0007397654,0.998445,0.00015171098,0.00019685863,0.0001554554,0.0000022627191,0.0000103697585,7.041154e-7,0.00029787482],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.999765,0.000057181835,0.00004033202,0.000035783378,0.00008046339,0.000021364256],"domain_scores_gemma":[0.9995813,0.00019475017,0.00006289284,0.0000118758835,0.00011318099,0.00003596327],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00077044184,0.0005992274,0.0012838673,0.002917195,0.0002797297,0.0010905365,0.00073118624,0.0012968662,0.0021890732],"category_scores_gemma":[0.0009739719,0.00022529946,0.00041271726,0.0033231592,0.00061307766,0.0019048416,0.00074922794,0.001401818,0.0012068305],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00011951138,0.000060186423,0.0006765752,0.017043969,0.0001297202,0.0013939121,0.00019017204,0.0003123984,0.0020348763,0.0068014143,0.026083864,0.9451533],"study_design_scores_gemma":[0.000027678912,0.00009453642,0.0027110698,0.006860247,0.0001385101,0.009971495,0.000275909,0.00010470557,0.00033625306,0.004651487,0.97480255,0.000025518008],"about_ca_topic_score_codex":0.0014688917,"about_ca_topic_score_gemma":0.0023929158,"teacher_disagreement_score":0.002917195,"about_ca_system_score_codex":0.00074327143,"about_ca_system_score_gemma":0.0014764216,"threshold_uncertainty_score":0.007323146},"labels":[],"label_agreement":null},{"id":"W2162589030","doi":"10.1186/1750-1172-9-15","title":"A novel recurrent mutation in ATP1A3 causes CAPOS syndrome","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":192,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Simon Fraser University; Canada's Michael Smith Genome Sciences Centre; Pacific Centre for Reproductive Medicine; Child and Family Research Institute; University of British Columbia; BC Children's Hospital","funders":"University of Toronto; Michael Smith Health Research BC; Canadian Institutes of Health Research; Genome Canada; McGill University; Université de Montréal; Genome British Columbia; Rare Disease Foundation; University of Ottawa","keywords":"Proband; Missense mutation; Genetics; Sanger sequencing; Exome sequencing; Dystonia; Mutation; Cerebellar ataxia; Sensorineural hearing loss; Medicine; Hearing loss; Ataxia; Biology; Gene; Audiology; Neuroscience","score_opus":0.029120279556264173,"score_gpt":0.2698963322203603,"score_spread":0.24077605266409613,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2162589030","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9965796,0.00039241934,0.00096044876,0.00013259273,0.000033414224,0.000027026394,0.0002015768,0.00008922364,0.001583797],"genre_scores_gemma":[0.99854434,0.00014023499,0.0006375005,0.00007631974,0.000037151916,0.0000137793895,0.00019826648,0.000017765282,0.0003347319],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.9998011,0.00001720514,0.000018002655,0.000066702734,0.000056431676,0.00004069656],"domain_scores_gemma":[0.9996629,0.00010200094,0.00009314372,0.00001878092,0.00002658355,0.00009663815],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00013866535,0.0013397365,0.00047263337,0.0008339436,0.0007840052,0.00038297512,0.0005217395,0.0014643833,0.0022470003],"category_scores_gemma":[0.0008649139,0.0002649543,0.00044828482,0.0007821527,0.00072261976,0.00019428426,0.0006488118,0.00046899397,0.0004338399],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00042145068,0.00012811055,0.050231736,0.00020431323,0.00014575299,0.83117765,0.0008312833,0.00049562985,0.1022484,0.0006554692,0.0013734999,0.012086782],"study_design_scores_gemma":[0.00014402198,0.00037256398,0.09439192,0.000057787922,0.00017070558,0.87418604,0.00026971512,0.0015464106,0.023642229,0.0006529806,0.0045224125,0.00004321467],"about_ca_topic_score_codex":0.0015647903,"about_ca_topic_score_gemma":0.0019576708,"teacher_disagreement_score":0.0022470003,"about_ca_system_score_codex":0.0004651397,"about_ca_system_score_gemma":0.0003696816,"threshold_uncertainty_score":0.00751698},"labels":[],"label_agreement":null},{"id":"W2166473564","doi":"10.1186/1750-1172-8-11","title":"Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research; Cystic Fibrosis Canada; Rosalind Franklin University of Medicine and Science; National Institutes of Health; March of Dimes Foundation; Case Western Reserve University; Cystic Fibrosis Foundation Therapeutics","keywords":"Biology; Mutant; Endoplasmic reticulum; Mutant protein; Cell biology; Mutation; Transport protein; Cystic fibrosis transmembrane conductance regulator; Proteostasis; Endoplasmic-reticulum-associated protein degradation; Synthetic lethality; Unfolded protein response; Gene; Genetics","score_opus":0.02739865544371945,"score_gpt":0.3073026682233675,"score_spread":0.27990401277964805,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2166473564","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.96249723,0.016374495,0.0111121535,0.0007403466,0.0005147988,0.00027470657,0.00316742,0.00031103165,0.005007819],"genre_scores_gemma":[0.96127164,0.00979807,0.014061816,0.00033275076,0.000115377,0.0003728589,0.0060760486,0.00012368184,0.007847708],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.99925476,0.00020262509,0.0001291544,0.0001151554,0.0002263963,0.00007181077],"domain_scores_gemma":[0.9995284,0.00018641334,0.000077121105,0.000074719836,0.000103451515,0.000029949293],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007219294,0.0007359554,0.0008757701,0.00033672882,0.00029773242,0.00048076647,0.00046169895,0.0007819125,0.0021612695],"category_scores_gemma":[0.00027270967,0.00017253618,0.0008409034,0.00045706885,0.00032770267,0.00039851308,0.00018020817,0.0011117222,0.0009056545],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00018362686,0.00028043767,0.00019933174,0.00016745509,0.000033287695,0.0001247235,0.00003445712,0.00012567692,0.9968923,0.00008882571,0.00023144859,0.0016384694],"study_design_scores_gemma":[0.000044195836,0.0012659336,0.0010038107,0.000011207188,0.00006739451,0.00019097253,0.000024675164,0.0004667877,0.9937742,0.000018314446,0.0031263984,0.0000061495602],"about_ca_topic_score_codex":0.0012302165,"about_ca_topic_score_gemma":0.001751637,"teacher_disagreement_score":0.0021612695,"about_ca_system_score_codex":0.00040042933,"about_ca_system_score_gemma":0.0002706716,"threshold_uncertainty_score":0.0072301626},"labels":[],"label_agreement":null},{"id":"W2169492032","doi":"10.1186/1750-1172-6-37","title":"TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families","year":2011,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":63,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"TRPV4; Phenotype; Dysplasia; Short stature; Medicine; Mutation; Clinical phenotype; Radiography; Genetics; Pathology; Bioinformatics; Biology; Gene; Internal medicine; Radiology","score_opus":0.03792947898944498,"score_gpt":0.28241126696833907,"score_spread":0.24448178797889408,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2169492032","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.998533,0.00037232306,0.000373523,0.00003936119,0.0000068699824,0.0000222265,0.00014186383,0.000011630808,0.00049909885],"genre_scores_gemma":[0.9981279,0.00044453572,0.00062813435,0.00004860716,0.000028217753,0.000046258247,0.00031499314,0.000009058735,0.00035247847],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9993691,0.00009034342,0.00006988013,0.00021531389,0.00014726086,0.00010814713],"domain_scores_gemma":[0.9993135,0.00025023165,0.00016597024,0.000052018117,0.00008164718,0.00013678806],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00033480674,0.0011030377,0.0006308378,0.0019946443,0.0011373173,0.0005336473,0.0005669527,0.00058900105,0.0023780784],"category_scores_gemma":[0.0022991858,0.00051630504,0.00046981254,0.0009896434,0.0010814231,0.0003683822,0.0009936672,0.00036945945,0.00025682247],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0007309453,0.00052034104,0.66840434,0.00019088318,0.00020967076,0.254948,0.005601841,0.00071683637,0.031928577,0.0005171363,0.00095044926,0.035281017],"study_design_scores_gemma":[0.000097073316,0.0006022842,0.60058117,0.000062693056,0.00019152323,0.39012676,0.0010818901,0.000608189,0.0023870254,0.0003354516,0.0038534983,0.00007244929],"about_ca_topic_score_codex":0.0020657326,"about_ca_topic_score_gemma":0.0022425938,"teacher_disagreement_score":0.0023780784,"about_ca_system_score_codex":0.0005393149,"about_ca_system_score_gemma":0.0003329304,"threshold_uncertainty_score":0.007955432},"labels":[],"label_agreement":null},{"id":"W2169606085","doi":"10.1186/s13023-014-0214-5","title":"Thymectomy for non-thymomatous myasthenia gravis: a propensity score matched study","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":32,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Toronto; University Health Network","funders":"","keywords":"Thymectomy; Medicine; Propensity score matching; Myasthenia gravis; Cohort; Confounding; Hazard ratio; Internal medicine; Proportional hazards model; Cohort study; Surgery; Confidence interval","score_opus":0.02264873537488887,"score_gpt":0.26989489408323003,"score_spread":0.24724615870834116,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2169606085","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9983308,0.00055954105,0.00053448585,0.000037742826,0.0000119016595,0.000079223755,0.00018166956,0.0000031557136,0.0002615186],"genre_scores_gemma":[0.99945253,0.00012028616,0.0001246098,0.000026342597,0.000013968063,0.000029982539,0.0001487109,0.000001120206,0.00008250024],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99928856,0.00023986843,0.00008663391,0.0002065828,0.00010369631,0.00007468808],"domain_scores_gemma":[0.998838,0.00022335736,0.0005014367,0.00021551577,0.00007304114,0.00014868227],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0016080453,0.0002981574,0.0005259021,0.00051963166,0.0005747229,0.0005569095,0.00032175632,0.0004942198,0.0022948147],"category_scores_gemma":[0.0025494448,0.00034761813,0.0008183167,0.00091305433,0.00027352,0.00041337736,0.00036433554,0.00037069301,0.0002844672],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.003828518,0.00045317292,0.9889198,0.0000935868,0.0010210954,0.00044640485,0.00014421983,0.00013455463,0.00058167335,0.0001833692,0.0002469362,0.0039466876],"study_design_scores_gemma":[0.0008966333,0.002565678,0.9904027,0.000044655415,0.0010823247,0.0012593057,0.00024710986,0.0016231629,0.00017556098,0.00040442598,0.001279393,0.000019034904],"about_ca_topic_score_codex":0.0009465646,"about_ca_topic_score_gemma":0.0007969729,"teacher_disagreement_score":0.0022948147,"about_ca_system_score_codex":0.00032351853,"about_ca_system_score_gemma":0.00036357672,"threshold_uncertainty_score":0.0085042715},"labels":[],"label_agreement":null},{"id":"W2172028347","doi":"10.1186/s13023-014-0115-7","title":"Targeting under-diagnosis in hereditary hemorrhagic telangiectasia: a model approach for rare diseases?","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Institute for Clinical Evaluative Sciences; University of Toronto; University Health Network; Princess Margaret Cancer Centre; Hospital for Sick Children; St. Michael's Hospital","funders":"HHT Foundation International","keywords":"Medicine; Telangiectasia; Pediatrics; Population; Prevalence; Demography; Census; Epidemiology; Young adult; Nose; Gerontology; Surgery; Environmental health; Internal medicine","score_opus":0.016565746153466343,"score_gpt":0.25768544345927236,"score_spread":0.241119697305806,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2172028347","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.556467,0.008778418,0.21343145,0.17900844,0.0012249647,0.001008626,0.010183221,0.0010218169,0.028876076],"genre_scores_gemma":[0.9494198,0.0017812378,0.043288723,0.0023444449,0.00019185334,0.0003920379,0.0012131189,0.0000706951,0.0012981972],"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","domain_scores_codex":[0.9929629,0.0047856215,0.00017510584,0.0011020016,0.0006023229,0.00037216168],"domain_scores_gemma":[0.98667437,0.0076094456,0.0020845786,0.0006590461,0.0021814997,0.0007910413],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.010270153,0.0008807783,0.0008209543,0.0023615912,0.0009875463,0.0031357417,0.0028394472,0.0009493324,0.003473233],"category_scores_gemma":[0.028653923,0.00041884457,0.0011821886,0.0030865252,0.0012659156,0.0018960644,0.0021302223,0.0012750214,0.00035949016],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00026380396,0.00025754134,0.7697339,0.0014043457,0.0017382909,0.000611437,0.004363002,0.04138376,0.00043523585,0.041917626,0.026102396,0.1117886],"study_design_scores_gemma":[0.000308665,0.0011120819,0.40082422,0.002601731,0.002105807,0.0016397649,0.018689424,0.39062878,0.00086139014,0.13196859,0.04907075,0.00018881328],"about_ca_topic_score_codex":0.21657558,"about_ca_topic_score_gemma":0.254618,"teacher_disagreement_score":0.21657558,"about_ca_system_score_codex":0.007900173,"about_ca_system_score_gemma":0.012946856,"threshold_uncertainty_score":0.4306299},"labels":[],"label_agreement":null},{"id":"W2231889478","doi":"10.1186/1750-1172-10-s1-p1","title":"Novel conformation-specific monoclonal antibodies against amyloidogenic forms of transthyretin","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Princess Margaret Cancer Centre; University Health Network; University of Toronto","funders":"","keywords":"Transthyretin; Monoclonal antibody; Antibody; Human genetics; Computational biology; Chemistry; Biochemistry; Biology; Medicine; Immunology; Internal medicine","score_opus":0.02034572860444267,"score_gpt":0.26191712119676563,"score_spread":0.24157139259232296,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2231889478","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9700426,0.0043497263,0.020288894,0.000263203,0.00016151831,0.0003538274,0.00028258975,0.00029928974,0.0039584143],"genre_scores_gemma":[0.97236145,0.002611606,0.019475851,0.00048213455,0.00011788236,0.0003086841,0.0010234655,0.000040380484,0.003578484],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.9995029,0.00008662738,0.000038889528,0.0001062733,0.00012108386,0.00014426974],"domain_scores_gemma":[0.9997198,0.00007276396,0.000044674634,0.000033034223,0.00008330353,0.000046378886],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00046041934,0.0007736086,0.00046600887,0.00040472217,0.00017722492,0.00032741725,0.0007440417,0.000863942,0.0011831118],"category_scores_gemma":[0.0003589297,0.0003428869,0.0005210924,0.0001988554,0.00021521866,0.00036954434,0.00034430655,0.0013443693,0.0005120328],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00012327841,0.00019843418,0.000263838,0.000045981767,0.000017838855,0.00010192914,0.00002025722,0.00013543178,0.99423933,0.00013488693,0.00010655973,0.004612187],"study_design_scores_gemma":[0.00068203657,0.006803336,0.010332942,0.000057697216,0.0002517034,0.0036348393,0.000056164066,0.00539628,0.95428133,0.00039655756,0.018067785,0.0000393289],"about_ca_topic_score_codex":0.00031965005,"about_ca_topic_score_gemma":0.0005044799,"teacher_disagreement_score":0.0011831118,"about_ca_system_score_codex":0.00037120545,"about_ca_system_score_gemma":0.00019025597,"threshold_uncertainty_score":0.003957927},"labels":[],"label_agreement":null},{"id":"W2258889383","doi":"10.1186/s13023-016-0391-5","title":"The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Alberta Children's Hospital; London Health Sciences Centre; Ontario Stroke Network; Université de Montréal; Hospital for Sick Children; Centre Hospitalier Universitaire Sainte-Justine; Dalhousie University; SickKids Foundation; Western University; Montreal Children's Hospital; University of Toronto; Newborn Screening Ontario; University of Manitoba; Ottawa Hospital; Children's Hospital of Eastern Ontario; Collège Boréal; Manitoba Health; McGill University; Institute for Clinical Evaluative Sciences; University of Ottawa","funders":"Canadian Institutes of Health Research; Ontario Ministry of Health and Long-Term Care; Institute for Clinical Evaluative Sciences","keywords":"Newborn screening; Medicine; Cohort; Pediatrics; Psychosocial; Emergency department; Cohort study; Health care; Incidence (geometry); Family medicine; Psychiatry; Internal medicine","score_opus":0.009322113486365578,"score_gpt":0.2840863921553539,"score_spread":0.27476427866898834,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2258889383","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9973775,0.00035568993,0.000079881924,0.0000960089,0.000008847576,0.000034642704,0.0017215789,0.000003150909,0.00032275112],"genre_scores_gemma":[0.9987212,0.00023377094,0.000095755044,0.00003490068,0.000008220094,0.000024064353,0.0007646339,0.0000025272714,0.00011486901],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9981633,0.00034452786,0.00014427933,0.00039938214,0.0003791233,0.00056940346],"domain_scores_gemma":[0.9951237,0.00060033746,0.0021174878,0.00065973576,0.0007735302,0.00072518154],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0021879247,0.00043878824,0.00039356132,0.0010948479,0.0011553701,0.0010999255,0.00095121196,0.0005758077,0.0012371223],"category_scores_gemma":[0.0055044796,0.000479715,0.0013754285,0.0018834234,0.00049071637,0.0005403362,0.0012319285,0.00083341735,0.00012015344],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00005810237,0.000015035788,0.9991673,0.0000072262933,0.00010394005,0.00004764544,0.00010554385,0.000015863989,0.000030716303,0.000012981477,0.00010245663,0.00033325935],"study_design_scores_gemma":[0.0000071688264,0.000046320107,0.99932444,0.0000120276645,0.00007523394,0.00007523739,0.00018411614,0.00011154531,0.00001739746,0.000009091704,0.00013305969,0.000004243809],"about_ca_topic_score_codex":0.49207735,"about_ca_topic_score_gemma":0.5027514,"teacher_disagreement_score":0.49207735,"about_ca_system_score_codex":0.003752482,"about_ca_system_score_gemma":0.0040880777,"threshold_uncertainty_score":0.9784263},"labels":[],"label_agreement":null},{"id":"W2265685560","doi":"10.1186/s13023-016-0390-6","title":"Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":57,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary; Cégep de Jonquière; Université de Montréal; Université de Sherbrooke; Hôpital Notre-Dame; Centre Hospitalier Universitaire de Sherbrooke","funders":"Sanofi; Genzyme","keywords":"Muscle disorder; Glycogen storage disease type II; Medicine; Exon; Muscle weakness; Etiology; Disease; Bioinformatics; Gene; Internal medicine; Genetics; Biology; Enzyme replacement therapy","score_opus":0.03613081049313299,"score_gpt":0.28365041108849715,"score_spread":0.24751960059536415,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2265685560","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.97956514,0.0020819178,0.014562081,0.0001805454,0.00003441221,0.00016519104,0.0014892368,0.00013420181,0.0017871967],"genre_scores_gemma":[0.973043,0.00056122785,0.023538226,0.00034918656,0.000024151866,0.00008529548,0.0019237563,0.000022286184,0.00045289184],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99953306,0.00009997826,0.00003779538,0.0001409539,0.0001257064,0.000062578045],"domain_scores_gemma":[0.99951804,0.000241458,0.00007577746,0.000021027296,0.00008729406,0.00005638321],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008185141,0.0005820065,0.00040208313,0.0012330601,0.00023239637,0.00048428256,0.00027301977,0.00055077724,0.0009761559],"category_scores_gemma":[0.0010922904,0.00016095999,0.00041276368,0.00038771224,0.00019853751,0.00017960742,0.00044049224,0.00040145827,0.00037635345],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0011605253,0.00022262328,0.49510247,0.00033848823,0.00025894545,0.009508876,0.00040984037,0.001995633,0.42231616,0.0003128373,0.0015613544,0.0668122],"study_design_scores_gemma":[0.00020355,0.0016068068,0.69975466,0.0003478214,0.00071269664,0.046163943,0.0004904998,0.041286524,0.19464321,0.0014359351,0.013274835,0.00007950345],"about_ca_topic_score_codex":0.0009500761,"about_ca_topic_score_gemma":0.0015017636,"teacher_disagreement_score":0.0012330601,"about_ca_system_score_codex":0.00028273487,"about_ca_system_score_gemma":0.0002263724,"threshold_uncertainty_score":0.0043287873},"labels":[],"label_agreement":null},{"id":"W2336982396","doi":"10.1186/s13023-016-0427-x","title":"Life expectancy of parents with Hereditary Haemorrhagic Telangiectasia","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":42,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of Toronto; St. Michael's Hospital; University of Manitoba","funders":"","keywords":"Telangiectasia; Medicine; Life expectancy; Pediatrics; Endoglin; Disease; Cause of death; ACVRL1; Internal medicine; Surgery; Population; Genetics; Biology","score_opus":0.010763844464722214,"score_gpt":0.24059131650093224,"score_spread":0.22982747203621,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2336982396","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9994381,0.00015521579,0.000019228097,0.000029664274,0.0000030507642,0.0000013307416,0.00018361153,8.8159044e-7,0.00016889522],"genre_scores_gemma":[0.99970895,0.00005498574,0.000011443645,0.000010802292,0.0000023639184,0.0000018179113,0.00014709348,3.0278184e-7,0.000062240135],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99974245,0.0000997061,0.000022333299,0.000045437777,0.000045390138,0.000044702454],"domain_scores_gemma":[0.9981164,0.00052355137,0.0008592774,0.000049600927,0.00013245369,0.00031878732],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00052756036,0.00011465195,0.00017196986,0.00045146016,0.00021828244,0.00036396948,0.00012756951,0.00024046788,0.0017559212],"category_scores_gemma":[0.0033983155,0.00008133669,0.000198388,0.0003965514,0.00013357289,0.00030415013,0.00022953407,0.00024524363,0.00016178952],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000064222935,0.000013886427,0.998408,0.0000042559527,0.000015759368,0.00011803451,0.00019542359,0.000019358213,0.000043387285,0.000008813544,0.000078969184,0.0010298935],"study_design_scores_gemma":[0.0000038207613,0.00012824193,0.99868554,0.0000070331084,0.000015229548,0.0004553412,0.00040210976,0.00009708508,0.000036933536,0.000016355165,0.00014918875,0.0000030658434],"about_ca_topic_score_codex":0.0038675866,"about_ca_topic_score_gemma":0.0028600662,"teacher_disagreement_score":0.0038675866,"about_ca_system_score_codex":0.00023660682,"about_ca_system_score_gemma":0.00011918167,"threshold_uncertainty_score":0.0076901913},"labels":[],"label_agreement":null},{"id":"W2354944977","doi":"10.1186/s13023-016-0439-6","title":"Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Sunny Hill Health Centre for Children; Child and Family Research Institute; Children's & Women's Health Centre of British Columbia; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke; Vallee Foundation; WorldQuant Foundation; National Human Genome Research Institute; Michael Smith Health Research BC; Child and Family Research Institute; National Institutes of Health; Pershing Square Sohn Cancer Research Alliance","keywords":"TCF4; Chromosomal translocation; Biology; Genetics; Fusion transcript; Gene; Alternative splicing; Chromosome 15; Transcription (linguistics); Gene isoform; Gene expression; Promoter","score_opus":0.014824811195405182,"score_gpt":0.25859925953415086,"score_spread":0.24377444833874568,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2354944977","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9941802,0.00040562407,0.002516163,0.00012424595,0.000030037572,0.000052585423,0.0010833252,0.00018097414,0.0014268697],"genre_scores_gemma":[0.9931565,0.0003125333,0.0026464274,0.00007320171,0.000024770465,0.000050640247,0.00122752,0.000100573765,0.002407849],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99971384,0.000020113706,0.000027080308,0.00009599347,0.00010309591,0.00003986823],"domain_scores_gemma":[0.999602,0.00009070163,0.00016538241,0.000023497007,0.000019785217,0.000098603305],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00013847995,0.0012911907,0.00033621173,0.0012221118,0.00033941618,0.00037842084,0.00045724228,0.0008263888,0.005792621],"category_scores_gemma":[0.0002862746,0.00020228598,0.00042082343,0.00044724252,0.00072374934,0.00012729963,0.0005174946,0.0007335977,0.0007319695],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00025252075,0.00007676707,0.003991169,0.000041919477,0.0000442386,0.0060579185,0.00007345052,0.00014727088,0.9858424,0.00022904342,0.00020810655,0.00303514],"study_design_scores_gemma":[0.00050608715,0.0011280825,0.21578477,0.000077441524,0.00047949335,0.124213435,0.00027569168,0.0051128203,0.6363743,0.0011726583,0.0147877075,0.00008752224],"about_ca_topic_score_codex":0.0017680589,"about_ca_topic_score_gemma":0.0019865797,"teacher_disagreement_score":0.005792621,"about_ca_system_score_codex":0.00053870043,"about_ca_system_score_gemma":0.0003510838,"threshold_uncertainty_score":0.019378245},"labels":[],"label_agreement":null},{"id":"W2407341152","doi":"10.1186/s13023-016-0450-y","title":"Pharmaceutical expenditure on drugs for rare diseases in Canada: a historical (2007–13) and prospective (2014–18) MIDAS sales data analysis","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":17,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Celgene","keywords":"Orphan drug; Medicine; Drug; Pharmacology; Bioinformatics","score_opus":0.17870113569879287,"score_gpt":0.3931260657619821,"score_spread":0.21442493006318925,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2407341152","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.5208096,0.0019946112,0.00034792777,0.00074684876,0.000026816595,0.00028160115,0.4690638,0.00010213227,0.006626618],"genre_scores_gemma":[0.7644068,0.0035447802,0.0012779635,0.00041789908,0.00005030457,0.00022467996,0.2269606,0.00005001163,0.0030669793],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99781114,0.000085095504,0.00016402526,0.00022625536,0.0011332026,0.00058034057],"domain_scores_gemma":[0.9916108,0.00033783267,0.0018403659,0.00016379045,0.005108633,0.0009384804],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0011196609,0.00073206093,0.00072600204,0.0096887145,0.0019235975,0.0025826588,0.0013910884,0.00041728336,0.0028311484],"category_scores_gemma":[0.0037950813,0.000505221,0.0014451067,0.022269558,0.00066339155,0.0006451869,0.0013616476,0.0009874315,0.000526946],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00040076586,0.00011388694,0.9581578,0.00039663754,0.000584675,0.00024650234,0.00037657548,0.0023076737,0.00011779213,0.0007065931,0.02717771,0.009413338],"study_design_scores_gemma":[0.000036559843,0.000042765623,0.9842668,0.00018590239,0.00019552575,0.00013425901,0.0009190872,0.0030926417,0.00018936192,0.00005380564,0.010839434,0.00004381073],"about_ca_topic_score_codex":0.9945614,"about_ca_topic_score_gemma":0.9932678,"teacher_disagreement_score":0.04326003,"about_ca_system_score_codex":0.04326003,"about_ca_system_score_gemma":0.058437534,"threshold_uncertainty_score":0.31387496},"labels":[],"label_agreement":null},{"id":"W2430204792","doi":"10.1186/s13023-016-0466-3","title":"Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Porphyrin Metabolism and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Ottawa; Newborn Screening Ontario; Children's Hospital of Eastern Ontario","funders":"","keywords":"Respiration; Enzyme; Oxidative phosphorylation; Human genetics; Biochemistry; Cellular respiration; Cell biology; Chemistry; Biology; Mitochondrion; Gene; Anatomy","score_opus":0.009366578413555874,"score_gpt":0.23220631192235658,"score_spread":0.2228397335088007,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2430204792","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9966809,0.0003553139,0.0015292914,0.00004549415,0.000014360861,0.000008699195,0.0006558599,0.000045917124,0.00066422],"genre_scores_gemma":[0.9974827,0.00020437482,0.0011896661,0.000012857879,0.000002882592,0.0000093958,0.00059334066,0.000012330116,0.0004923569],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.99987674,0.000015523408,0.000023882334,0.000038984777,0.000029673673,0.0000151723],"domain_scores_gemma":[0.99984336,0.0000622282,0.000028675724,0.000020110387,0.000014803967,0.000030760275],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00012566698,0.00036216067,0.00018804811,0.0002812814,0.0001644979,0.00021785514,0.000161871,0.00029359836,0.0022557739],"category_scores_gemma":[0.0002762714,0.00009270491,0.00021320605,0.00018858786,0.00017391836,0.000115167815,0.00016323029,0.0002520908,0.0003451739],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00024086589,0.000026879052,0.00598705,0.00004244328,0.000017153576,0.0028087257,0.00007975249,0.00012713214,0.9883732,0.00010051198,0.00007899213,0.0021173207],"study_design_scores_gemma":[0.00002445237,0.00022127788,0.04121855,0.000010694132,0.000055280863,0.022672513,0.00014799132,0.0015781347,0.93180984,0.00015816942,0.0020904185,0.00001264391],"about_ca_topic_score_codex":0.00086375186,"about_ca_topic_score_gemma":0.00074988004,"teacher_disagreement_score":0.0022557739,"about_ca_system_score_codex":0.00017058235,"about_ca_system_score_gemma":0.00011600714,"threshold_uncertainty_score":0.0075463057},"labels":[],"label_agreement":null},{"id":"W2469834306","doi":"10.1186/s13023-016-0473-4","title":"Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":52,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Panel on Research Ethics","keywords":"Enzyme replacement therapy; Fabry disease; Medicine; Albuminuria; Left ventricular hypertrophy; Internal medicine; Alpha-galactosidase; Disease; Renal function; Urology; Endocrinology; Pediatrics; Gynecology","score_opus":0.09848368057069488,"score_gpt":0.40202957788519855,"score_spread":0.30354589731450365,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2469834306","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9955266,0.0009817625,0.00008752616,0.00007979941,0.0000054552866,0.000016772807,0.0023788572,0.0000068929266,0.0009163609],"genre_scores_gemma":[0.9968882,0.00039489966,0.00013373756,0.00006339737,0.000021185213,0.00002453853,0.0022175473,0.0000028347636,0.00025361535],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9997162,0.000079287645,0.00003973563,0.000069336056,0.000044606106,0.00005085823],"domain_scores_gemma":[0.9993345,0.000059355534,0.00043062255,0.000021716582,0.000058779326,0.00009498221],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00050502626,0.00023010663,0.00025419882,0.0009552945,0.00020828466,0.00026841142,0.00015428111,0.00023181923,0.0020231737],"category_scores_gemma":[0.0008119325,0.000077987555,0.0001839136,0.0007108099,0.00012577463,0.00024732033,0.00028222962,0.00014995103,0.00040228173],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000080803446,0.000013842732,0.996675,0.000015331321,0.000015144803,0.00010054694,0.000060481023,0.000022749335,0.00017780582,0.000016756512,0.00033629965,0.0024852322],"study_design_scores_gemma":[0.000006624569,0.000097214295,0.9980216,0.000015230458,0.000012694978,0.0008060402,0.00011478351,0.00003270254,0.000047100995,0.000008764436,0.00083505554,0.0000021380283],"about_ca_topic_score_codex":0.0014566947,"about_ca_topic_score_gemma":0.0013976928,"teacher_disagreement_score":0.0020231737,"about_ca_system_score_codex":0.00023269816,"about_ca_system_score_gemma":0.00018840523,"threshold_uncertainty_score":0.006768167},"labels":[],"label_agreement":null},{"id":"W2483364044","doi":"10.1186/s13023-016-0492-1","title":"Primary immunodeficiency associated with chromosomal aberration – an ESID survey","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":28,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University Health Centre","funders":"Radboud Universitair Medisch Centrum; Radboud Universiteit; McGill University Health Centre; McGill University","keywords":"Primary immunodeficiency; Immunology; Immunodeficiency; Medicine; Respiratory tract infections; Common variable immunodeficiency; Pediatrics; Antibody; Immune system; Internal medicine; Respiratory system","score_opus":0.010394324788028542,"score_gpt":0.22079542206937047,"score_spread":0.21040109728134193,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2483364044","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9988148,0.0001960667,0.00007913324,0.000020110285,0.0000021858955,0.000020117499,0.0005350778,0.0000032071896,0.00032945405],"genre_scores_gemma":[0.99876034,0.00020915922,0.00009945058,0.000047330454,0.000008447021,0.000019220446,0.00076033204,0.0000010509706,0.00009461961],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99948335,0.000118645614,0.00009628248,0.00011491392,0.000098607685,0.000088100845],"domain_scores_gemma":[0.99861145,0.0001675453,0.00064044184,0.000068607565,0.00019334284,0.0003186335],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00054897007,0.00020938419,0.00030031987,0.0014091972,0.00029932597,0.0003931389,0.00025813264,0.00038014667,0.0014334011],"category_scores_gemma":[0.0011324605,0.00020543035,0.00020361968,0.001485721,0.00023402869,0.0004181867,0.0006340016,0.00029724318,0.0003377834],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00001543496,0.000021110054,0.99903274,0.000009298,0.000006289943,0.0001389731,0.000055463603,0.000009663918,0.00013351001,0.000004096146,0.000057120775,0.00051624776],"study_design_scores_gemma":[0.0000025736524,0.00015500793,0.9978941,0.0000074278387,0.000008045706,0.0013156569,0.00022694388,0.00005055036,0.0000472309,0.0000045042793,0.00028561946,0.0000024064095],"about_ca_topic_score_codex":0.0029822462,"about_ca_topic_score_gemma":0.0027237323,"teacher_disagreement_score":0.0029822462,"about_ca_system_score_codex":0.00024064905,"about_ca_system_score_gemma":0.00037337074,"threshold_uncertainty_score":0.0059298277},"labels":[],"label_agreement":null},{"id":"W2487891892","doi":"10.1186/s13023-016-0484-1","title":"ROHHAD syndrome and evolution of sleep disordered breathing","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neuroscience of respiration and sleep","field":"Neuroscience","cited_by":71,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"SickKids Foundation; Children's Hospital of Eastern Ontario; University of Toronto; University of Ottawa; Hospital for Sick Children","funders":"","keywords":"Medicine; Hypoventilation; Polysomnography; Pediatrics; Cardiorespiratory fitness; Obstructive sleep apnea; Apnea; Ventilation (architecture); Obesity hypoventilation syndrome; Cardiology; Internal medicine; Respiratory system","score_opus":0.015142942728137224,"score_gpt":0.2475407823297931,"score_spread":0.2323978396016559,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2487891892","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9983865,0.0005002793,0.000059547783,0.00005450739,0.0000066809425,0.000011408036,0.00011810224,0.000005855521,0.00085714186],"genre_scores_gemma":[0.999398,0.0001987936,0.00014364837,0.00002119169,0.000008007487,0.00000444291,0.00013241309,0.0000012794383,0.000092217255],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99973494,0.000027659833,0.00002069521,0.00004597931,0.000072598574,0.00009804673],"domain_scores_gemma":[0.9991166,0.00012806467,0.00038470782,0.000021582859,0.00011327887,0.00023580383],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00022965467,0.00041115767,0.00024565202,0.0008431194,0.000522883,0.000380687,0.00030267774,0.00035428535,0.0018409429],"category_scores_gemma":[0.0008751024,0.00015618015,0.00021150752,0.00061018654,0.00056645606,0.0002876853,0.00034344615,0.00053493294,0.00015251581],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000049976825,0.000020168309,0.98868304,0.00001659753,0.000011103531,0.008561525,0.00013359706,0.000027200318,0.0009714519,0.00004834321,0.00009651042,0.0013803435],"study_design_scores_gemma":[0.0000043147297,0.00007284692,0.96579885,0.000015755017,0.000009447067,0.033455294,0.00023125568,0.0000650999,0.00012423188,0.0000206411,0.00019808058,0.0000041243434],"about_ca_topic_score_codex":0.029559432,"about_ca_topic_score_gemma":0.034332838,"teacher_disagreement_score":0.029559432,"about_ca_system_score_codex":0.00066278334,"about_ca_system_score_gemma":0.0013280052,"threshold_uncertainty_score":0.05877477},"labels":[],"label_agreement":null},{"id":"W2492906214","doi":"10.1186/s13023-016-0460-9","title":"State of rare disease management in Southeast Asia","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":59,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"U.S. Food and Drug Administration","keywords":"Stakeholder; Disease management; Economic growth; Disease; Developing country; Health care; Business; Rare disease; Disease burden; Medicine; Political science; Public relations; Economics; Pathology","score_opus":0.1160846788275659,"score_gpt":0.3578811353268105,"score_spread":0.24179645649924458,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2492906214","genre_codex":"review","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.14780663,0.5120225,0.0050730337,0.25652018,0.0019102405,0.00019459188,0.0010659354,0.00022278196,0.07518409],"genre_scores_gemma":[0.6956713,0.2784348,0.0069478736,0.015027615,0.0006138343,0.00012952118,0.0005279102,0.000035752448,0.0026113235],"study_design_codex":"design_other","study_design_gemma":"observational","domain_scores_codex":[0.99707747,0.0011285825,0.0007267993,0.000284984,0.00047751883,0.0003046593],"domain_scores_gemma":[0.9807176,0.0066147344,0.0049355584,0.0005459358,0.0047466247,0.0024396847],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.008950132,0.00032644294,0.00034744464,0.0020614169,0.0015265297,0.0042780256,0.0012966773,0.001034516,0.0031279544],"category_scores_gemma":[0.011907922,0.0002599085,0.00038299354,0.0032191072,0.002413106,0.003033438,0.0027587952,0.0016628996,0.00030358435],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000119006676,0.00017872277,0.077965066,0.024670139,0.00023347956,0.0074306964,0.057741478,0.0015169155,0.00401065,0.06869126,0.036431953,0.7210106],"study_design_scores_gemma":[0.000040484025,0.00046837752,0.10716423,0.047216833,0.00044224897,0.009464026,0.12208384,0.0016630228,0.0030017653,0.021242056,0.6869938,0.00021934917],"about_ca_topic_score_codex":0.019697221,"about_ca_topic_score_gemma":0.013271821,"teacher_disagreement_score":0.019697221,"about_ca_system_score_codex":0.0069458047,"about_ca_system_score_gemma":0.032163344,"threshold_uncertainty_score":0.05039555},"labels":[],"label_agreement":null},{"id":"W2505159077","doi":"10.1186/s13023-016-0481-4","title":"Brain morphometry in Pontocerebellar Hypoplasia type 2","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute on Drug Abuse; McGill University","keywords":"Pons; Cerebellum; Brain size; Hypoplasia; Brain morphometry; Medicine; Pathology; Magnetic resonance imaging; Psychology; Anatomy; Internal medicine; Radiology","score_opus":0.01277330119758618,"score_gpt":0.2506819362807873,"score_spread":0.2379086350832011,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2505159077","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99799675,0.00029515594,0.00097386003,0.000008035092,0.000003738005,0.0000095293135,0.00031858258,0.000038824848,0.00035548152],"genre_scores_gemma":[0.996756,0.0002005459,0.0021696233,0.000005338351,0.0000058243,0.000020494459,0.0005073867,0.00003242718,0.00030238007],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9997819,0.000032022483,0.00001951121,0.000066069115,0.00007803859,0.000022411095],"domain_scores_gemma":[0.9993975,0.0001434078,0.00029028795,0.000046153855,0.00007471419,0.000047923855],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003843848,0.00036684144,0.00015732732,0.002282967,0.00013924582,0.00029695907,0.00020187674,0.00022149493,0.0014920677],"category_scores_gemma":[0.0011331706,0.0001906555,0.00018342218,0.0006708414,0.00031290564,0.00023704376,0.0002633503,0.00018952017,0.00018973532],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0009519589,0.00006219435,0.84141105,0.00021243717,0.00022378835,0.0024091394,0.0006404359,0.001301065,0.10432892,0.00010880652,0.00043093401,0.04791933],"study_design_scores_gemma":[0.000004448796,0.00010029367,0.9882997,0.0000072466623,0.000023727127,0.0056471177,0.00009281417,0.0004426764,0.0050127185,0.00003959157,0.00032302903,0.0000065120425],"about_ca_topic_score_codex":0.0027189183,"about_ca_topic_score_gemma":0.002311003,"teacher_disagreement_score":0.0027189183,"about_ca_system_score_codex":0.00024920877,"about_ca_system_score_gemma":0.00013150544,"threshold_uncertainty_score":0.005406201},"labels":[],"label_agreement":null},{"id":"W2507331447","doi":"10.1186/s13023-016-0498-8","title":"Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Antioxidant Activity and Oxidative Stress","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Hospices Civils de Lyon","keywords":"Vitamin E; Tocopherol; Adipose tissue; Hypocholesterolemia; Medicine; Endocrinology; Internal medicine; Vitamin; Chylomicron; Blood plasma; Physiology; Chemistry; Cholesterol; Biochemistry; Antioxidant; Lipoprotein; Very low-density lipoprotein","score_opus":0.010266987152882202,"score_gpt":0.2524653425924302,"score_spread":0.24219835543954799,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2507331447","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9936318,0.002700887,0.0022658384,0.000057342964,0.00002168949,0.000045361237,0.0005594727,0.000047623296,0.0006700396],"genre_scores_gemma":[0.99366105,0.00082326133,0.0043568034,0.000044610682,0.000015636451,0.00007339439,0.0007829901,0.000014179118,0.00022799634],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99943405,0.00013902706,0.0000947164,0.00014165803,0.00011325825,0.000077207646],"domain_scores_gemma":[0.99907255,0.00024359245,0.00031538418,0.00007254383,0.00020385391,0.00009204517],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00088600494,0.00040955946,0.00051445817,0.0009879321,0.00040043105,0.0004802164,0.00035804766,0.00039412113,0.0008449934],"category_scores_gemma":[0.0019494244,0.00016165597,0.00027475733,0.00080668106,0.00025369084,0.0002935746,0.0002991237,0.0004932186,0.0002687443],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00048658825,0.000105858926,0.9773094,0.00008463764,0.00003528511,0.00034128365,0.00028031063,0.00017324997,0.0055495505,0.00007181336,0.0002475153,0.0153144505],"study_design_scores_gemma":[0.000027607715,0.0009316552,0.98925906,0.00004637978,0.00006141616,0.0018180608,0.00045338852,0.00038986417,0.005083903,0.00007743159,0.001839159,0.0000120348595],"about_ca_topic_score_codex":0.003248357,"about_ca_topic_score_gemma":0.0018024036,"teacher_disagreement_score":0.003248357,"about_ca_system_score_codex":0.00039386193,"about_ca_system_score_gemma":0.00037792008,"threshold_uncertainty_score":0.006458938},"labels":[],"label_agreement":null},{"id":"W2547879761","doi":"10.1186/s13023-016-0519-7","title":"Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":42,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Children's & Women's Health Centre of British Columbia; Child and Family Research Institute; University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Canadian Institutes of Health Research; Institute of Human Development, Child and Youth Health; Hospital for Sick Children; University of British Columbia; National Institutes of Health; Michael Smith Health Research BC","keywords":"Wnt signaling pathway; Notch signaling pathway; Pathogenesis; Medicine; Focal segmental glomerulosclerosis; Kidney; Cancer research; Biology; Gene; Pathology; Genetics; Internal medicine; Glomerulonephritis","score_opus":0.006628030466363052,"score_gpt":0.22046677201752615,"score_spread":0.21383874155116311,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2547879761","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.96602213,0.020130647,0.002668099,0.004720243,0.00013226841,0.00002131319,0.00015993067,0.00012675843,0.0060185315],"genre_scores_gemma":[0.99441445,0.0031495653,0.0009252432,0.00043391896,0.00009569346,0.0000058202118,0.000034079094,0.00000662332,0.00093463715],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99993265,0.000011728646,0.000008914595,0.000014517171,0.000015673126,0.00001650903],"domain_scores_gemma":[0.99993277,0.000017834525,0.00001798138,0.000005170716,0.0000065300183,0.00001965039],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00012717224,0.000236259,0.00019731894,0.0004272368,0.00017466187,0.0002066186,0.00018465845,0.0008382266,0.0012859899],"category_scores_gemma":[0.00025338045,0.00007327245,0.000099472825,0.00017722999,0.0007089394,0.0002731799,0.000180641,0.0003781257,0.00018978056],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0014793867,0.00013034811,0.20527245,0.0007855728,0.00010563544,0.13000923,0.00060249213,0.0003713217,0.56942165,0.016763594,0.004349491,0.07070887],"study_design_scores_gemma":[0.00016651726,0.0005889353,0.25885913,0.00033953728,0.00020408834,0.53304005,0.0012176465,0.0031341182,0.1455623,0.012998775,0.043832533,0.000056348796],"about_ca_topic_score_codex":0.0003738783,"about_ca_topic_score_gemma":0.00046323612,"teacher_disagreement_score":0.0012859899,"about_ca_system_score_codex":0.00020727547,"about_ca_system_score_gemma":0.00016495577,"threshold_uncertainty_score":0},"labels":[],"label_agreement":null},{"id":"W2550908367","doi":"10.1186/s13023-016-0534-8","title":"Current models of care for disorders of sex development – results from an International survey of specialist centres","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Sexual Differentiation and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":76,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Northern British Columbia","funders":"European Commission; Medical Research Council; European Society for Paediatric Endocrinology","keywords":"Family medicine; Medicine; Audit; Attendance; Disorders of sex development; Geneticist; External quality assessment; Pediatrics; Internal medicine; Pathology","score_opus":0.022271976617027036,"score_gpt":0.2940970115867052,"score_spread":0.2718250349696782,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2550908367","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9919516,0.0024950702,0.00023776373,0.0010960824,0.000019972864,0.000034955086,0.0005831192,0.000010694027,0.0035708055],"genre_scores_gemma":[0.9980026,0.0010182338,0.0002623725,0.0001780296,0.000009179183,0.000020339132,0.00036385932,0.0000052514324,0.0001401398],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99503076,0.0018766042,0.00088336394,0.00061128987,0.0010979224,0.0005000597],"domain_scores_gemma":[0.9790248,0.0041531674,0.010541826,0.0008618268,0.0028263887,0.002591928],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0043495726,0.00018039143,0.00023845486,0.0016533879,0.0005082866,0.0015691986,0.0010450946,0.0004981542,0.002026094],"category_scores_gemma":[0.017616639,0.0002714984,0.0003398497,0.0022723123,0.00081933266,0.0012827531,0.0019591453,0.000605419,0.00031725282],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000027379536,0.00002568422,0.9838411,0.0000852537,0.000024020641,0.00010616826,0.006963648,0.00007611753,0.000075869255,0.00012803283,0.0009199856,0.0077267536],"study_design_scores_gemma":[0.0000062180575,0.00007488342,0.98120594,0.00020727106,0.000013789748,0.0007296571,0.014949479,0.00019837201,0.0000434965,0.00006099991,0.002497883,0.000012047503],"about_ca_topic_score_codex":0.014901197,"about_ca_topic_score_gemma":0.012956103,"teacher_disagreement_score":0.014901197,"about_ca_system_score_codex":0.0015766233,"about_ca_system_score_gemma":0.0019741922,"threshold_uncertainty_score":0.029628932},"labels":[],"label_agreement":null},{"id":"W2556430588","doi":"10.1186/s13023-016-0537-5","title":"An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry","year":2016,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Complement system in diseases","field":"Immunology and Microbiology","cited_by":36,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children","funders":"Alexion Pharmaceuticals","keywords":"Medicine; Eculizumab; Alliance; General partnership; Disease; Patient advocacy; Disease registry; Quality of life (healthcare); Intensive care medicine; Family medicine; MEDLINE; Internal medicine; Nursing; Business; Political science; Immunology","score_opus":0.02835853928980024,"score_gpt":0.31798921363030186,"score_spread":0.2896306743405016,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2556430588","genre_codex":"commentary","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.04089919,0.015174786,0.10121371,0.73629826,0.022986898,0.012328176,0.003616951,0.0031282792,0.06435374],"genre_scores_gemma":[0.28014064,0.014132083,0.36972287,0.23515771,0.025865393,0.025637131,0.008678652,0.0018219667,0.038843628],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.7424829,0.22070138,0.010201596,0.006723306,0.013542005,0.006348845],"domain_scores_gemma":[0.5879329,0.15064418,0.031315077,0.05719227,0.048093755,0.12482183],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.23643522,0.0010367868,0.0010881118,0.0048972494,0.0063467952,0.011950238,0.0045092534,0.006428921,0.017250592],"category_scores_gemma":[0.1809658,0.0011175047,0.002275654,0.004085124,0.0051084096,0.01585893,0.030546093,0.013037304,0.0050690183],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010246915,0.0014914897,0.037632223,0.0017337137,0.0004266737,0.002279091,0.016170425,0.0011092831,0.0022014605,0.043789793,0.4822651,0.40987605],"study_design_scores_gemma":[0.0009943576,0.00085051055,0.010486266,0.002474439,0.00016585614,0.0016973612,0.009594665,0.0011140764,0.0007795544,0.025569553,0.9460651,0.00020827378],"about_ca_topic_score_codex":0.0017367343,"about_ca_topic_score_gemma":0.0034559334,"teacher_disagreement_score":0.23643522,"about_ca_system_score_codex":0.00420552,"about_ca_system_score_gemma":0.0729494,"threshold_uncertainty_score":0.9416113},"labels":[],"label_agreement":null},{"id":"W2557309514","doi":"10.1186/s13023-016-0539-3","title":"Health technology assessment of drugs for rare diseases: insights, trends, and reasons for negative recommendations from the CADTH common drug review","year":2016,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":22,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Communications Research Centre Canada; Canadian Agency for Drugs and Technologies in Health","funders":"","keywords":"Reimbursement; Medicine; Orphan drug; Agency (philosophy); Government (linguistics); Health technology; Randomized controlled trial; Public health; Family medicine; Descriptive statistics; Health care; Political science; Internal medicine; Bioinformatics; Nursing","score_opus":0.1872431895851158,"score_gpt":0.46792774547461136,"score_spread":0.2806845558894956,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2557309514","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":"evaluation","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":"evaluation","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.064060695,0.44932753,0.010000085,0.38460338,0.009999995,0.0025082035,0.028922506,0.00074300094,0.049834576],"genre_scores_gemma":[0.47645584,0.29915604,0.042675223,0.1302157,0.015108692,0.003085573,0.025119394,0.0007558104,0.007427736],"study_design_codex":"design_other","study_design_gemma":"observational","domain_scores_codex":[0.578735,0.14292862,0.12205615,0.014553869,0.13634343,0.005383004],"domain_scores_gemma":[0.15502293,0.4033669,0.18280107,0.020270072,0.22617383,0.012365221],"candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.22816071,0.0008403003,0.0021345995,0.021601452,0.0019394249,0.010764903,0.003660521,0.0035547868,0.0027113317],"category_scores_gemma":[0.6160213,0.0011967887,0.0036142287,0.0226495,0.001864052,0.0052097533,0.0046688505,0.0045410497,0.00090061617],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_system_candidate":true,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010130666,0.00017116845,0.14740139,0.04453741,0.0037268263,0.00084547134,0.0027384378,0.0011037911,0.0012502522,0.0104376,0.34857962,0.43819505],"study_design_scores_gemma":[0.00047854346,0.00054519024,0.2884437,0.05575645,0.003369809,0.0024339994,0.0023492961,0.0032990195,0.0017932601,0.0043755034,0.63662815,0.00052705506],"about_ca_topic_score_codex":0.040569767,"about_ca_topic_score_gemma":0.087412916,"teacher_disagreement_score":0.9825074,"about_ca_system_score_codex":0.017492618,"about_ca_system_score_gemma":0.046517,"threshold_uncertainty_score":0.95181525},"labels":[],"label_agreement":null},{"id":"W2560147854","doi":"10.1186/s13023-016-0548-2","title":"Experiences of caregivers of children with inherited metabolic diseases: a qualitative study","year":2016,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Kingston General Hospital; Queen's University; University of Calgary; London Health Sciences Centre; University of Alberta; SickKids Foundation; Western University; Hospital for Sick Children; Children's Hospital Research Institute of Manitoba; University of British Columbia; Montreal Children's Hospital; University of Toronto; BC Children's Hospital; Ottawa Hospital; Centre Hospitalier Universitaire Sainte-Justine; University of Ottawa; Dalhousie University; Newborn Screening Ontario; Children's Hospital of Eastern Ontario; University of Manitoba; Alberta Children's Hospital; Stollery Children's Hospital; Izaak Walton Killam Health Centre; McGill University Health Centre; Institute for Clinical Evaluative Sciences","funders":"Canadian Institutes of Health Research","keywords":"Human genetics; Medicine; Qualitative research; Gerontology; Family medicine; Genetics; Biology; Sociology; Social science; Gene","score_opus":0.007833825752935676,"score_gpt":0.2723933784211253,"score_spread":0.26455955266818965,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2560147854","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9919505,0.0019534046,0.00064373866,0.0015794312,0.00007580702,0.00014118773,0.00022551067,0.000010269045,0.003420139],"genre_scores_gemma":[0.9949195,0.0021730457,0.00052312465,0.00078633206,0.00002403818,0.00020533601,0.00010523223,0.000016262813,0.0012471362],"study_design_codex":"qualitative","study_design_gemma":"qualitative","domain_scores_codex":[0.9952792,0.002756471,0.0001883229,0.00029300732,0.00039794284,0.0010851682],"domain_scores_gemma":[0.98871,0.0068559907,0.001270117,0.00022233945,0.001449458,0.0014921664],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00673958,0.00079802884,0.0010934168,0.0012346826,0.011208398,0.0032057362,0.0016267534,0.001368888,0.0025905161],"category_scores_gemma":[0.015124206,0.00077609625,0.00047464814,0.0016120992,0.0059627104,0.0030441165,0.0047782552,0.003043053,0.0002476991],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000024924271,0.000017167553,0.005057226,0.00013444449,0.0000035937612,0.0013702527,0.99076754,0.000014454352,0.0001904614,0.00024533633,0.00042786804,0.0017467164],"study_design_scores_gemma":[0.0000014132207,0.000013776263,0.0013873301,0.000105984946,0.0000021489734,0.0002554087,0.995837,0.000012739503,0.000039759103,0.000034336354,0.002305168,0.000005027452],"about_ca_topic_score_codex":0.06612001,"about_ca_topic_score_gemma":0.10641455,"teacher_disagreement_score":0.06612001,"about_ca_system_score_codex":0.0080495775,"about_ca_system_score_gemma":0.00857085,"threshold_uncertainty_score":0.13147032},"labels":[],"label_agreement":null},{"id":"W2573999886","doi":"10.1186/s13023-016-0554-4","title":"Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules","year":2017,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Food Allergy and Anaphylaxis Research","field":"Medicine","cited_by":41,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Manitoba","funders":"European Academy of Allergy and Clinical Immunology; American Academy of Allergy Asthma and Immunology","keywords":"Anaphylaxis; Medicine; ICD-10; Coding (social sciences); Medical emergency; Intensive care medicine; Allergy; Immunology","score_opus":0.18390607076636012,"score_gpt":0.4214156163328543,"score_spread":0.23750954556649417,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2573999886","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.01167055,0.7727533,0.021774197,0.048838478,0.011655357,0.0022008787,0.06408436,0.0008762434,0.06614668],"genre_scores_gemma":[0.07572899,0.7803439,0.0358832,0.016403586,0.0044808765,0.0029128536,0.07776778,0.0003111055,0.006167728],"study_design_codex":"design_other","study_design_gemma":"systematic_review","domain_scores_codex":[0.98206574,0.005650252,0.005983476,0.0009117931,0.004919644,0.00046899],"domain_scores_gemma":[0.9226098,0.035502076,0.012383386,0.004691607,0.02402044,0.00079273427],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.022735624,0.00037295133,0.0012473196,0.00556115,0.0002833847,0.0017195523,0.0018436043,0.0009193198,0.0053278347],"category_scores_gemma":[0.06930085,0.00025039984,0.0018642109,0.006357434,0.0006065429,0.0020271828,0.0012860665,0.0021841896,0.0023792337],"study_design_candidate":"systematic_review","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00024418265,0.00006971318,0.014673461,0.045386475,0.00081941235,0.00033808887,0.0010224327,0.00045418358,0.00056272966,0.021758638,0.20715508,0.7075155],"study_design_scores_gemma":[0.00008883606,0.00007452022,0.024626754,0.03653111,0.00087852136,0.00092482247,0.00042370745,0.00023654621,0.0005750604,0.002953805,0.9326185,0.000067695655],"about_ca_topic_score_codex":0.0059819124,"about_ca_topic_score_gemma":0.005375938,"teacher_disagreement_score":0.022735624,"about_ca_system_score_codex":0.0012824807,"about_ca_system_score_gemma":0.0074105333,"threshold_uncertainty_score":0.1202389},"labels":[],"label_agreement":null},{"id":"W2587645054","doi":"10.1186/s13023-017-0584-6","title":"Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease","year":2017,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":31,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Intertek (Canada); BC Children's Hospital; Pacific Centre for Reproductive Medicine; University of British Columbia","funders":"Genome British Columbia; BC Children's Hospital; Michael Smith Health Research BC; BC Children’s Hospital Foundation; Children's Hospital Foundation; Canadian Institutes of Health Research; Genome Canada","keywords":"Sialic acid; Lysosomal storage disease; Biology; Frameshift mutation; Ataxia; Genetics; Exon; Gene; Biochemistry; Neuroscience","score_opus":0.018656459859829153,"score_gpt":0.3204757746700468,"score_spread":0.3018193148102176,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2587645054","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99685067,0.00022516707,0.0016206541,0.00008759819,0.00004745937,0.000037961192,0.00033673074,0.00004835842,0.0007454301],"genre_scores_gemma":[0.99687564,0.00012241518,0.0018862832,0.00009529931,0.000025605248,0.000012317395,0.00049174455,0.000024243902,0.0004663776],"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","domain_scores_codex":[0.999876,0.000014415007,0.00001774262,0.000031548483,0.000032972654,0.000027258262],"domain_scores_gemma":[0.9995734,0.00015335115,0.00009056152,0.000022357797,0.000039855073,0.00012051544],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00013041888,0.0004118591,0.00019592655,0.0004899855,0.0002269293,0.00020454338,0.00024485393,0.000782136,0.0022239794],"category_scores_gemma":[0.000386089,0.00012621266,0.0004264576,0.0002545609,0.00025434693,0.00007074322,0.00023230688,0.00039670357,0.0007090093],"study_design_candidate":"case_report","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00063437625,0.0002444373,0.051784847,0.00017571452,0.0000971247,0.1753196,0.0006799943,0.0002454483,0.7586613,0.0005012424,0.00054191804,0.011113939],"study_design_scores_gemma":[0.00022483173,0.0022516465,0.34871602,0.00022976211,0.000388431,0.36972442,0.0008956883,0.0044444334,0.25688532,0.00042261658,0.015742207,0.00007466707],"about_ca_topic_score_codex":0.00072941434,"about_ca_topic_score_gemma":0.0009047415,"teacher_disagreement_score":0.0022239794,"about_ca_system_score_codex":0.00019579657,"about_ca_system_score_gemma":0.00017877329,"threshold_uncertainty_score":0.0074399114},"labels":[],"label_agreement":null},{"id":"W2588584253","doi":"10.1186/s13023-017-0588-2","title":"Non-optic glioma in adults and children with neurofibromatosis 1","year":2017,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia","funders":"Universität Hamburg","keywords":"Medicine; Neurofibromatosis; Glioma; Confidence interval; Asymptomatic; Optic nerve; Cohort; Pediatrics; Natural history; Surgery; Radiology; Internal medicine; Ophthalmology","score_opus":0.008598207093292795,"score_gpt":0.2419004459114839,"score_spread":0.23330223881819112,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2588584253","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99772316,0.0012389993,0.000040350613,0.000052950272,0.000007624908,0.000011558649,0.00036209592,0.000005454164,0.00055783585],"genre_scores_gemma":[0.99851054,0.00081462745,0.000084578,0.00003610562,0.000020959076,0.000013613017,0.0004260936,0.000002775267,0.0000906778],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9992581,0.000119879274,0.0001117533,0.00017071134,0.00021268542,0.00012693246],"domain_scores_gemma":[0.99632615,0.0005383971,0.0026034154,0.00007738363,0.00014289143,0.00031173052],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005751426,0.00032476542,0.00039713547,0.001413801,0.00047359828,0.00066135824,0.00034810015,0.0006335205,0.0020618574],"category_scores_gemma":[0.0033692678,0.00026880376,0.00029843865,0.0014145714,0.00053036446,0.0007926358,0.00040217477,0.00052524527,0.00029542542],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000031226653,0.0000064634446,0.9985843,0.000013509546,0.000007962648,0.0003571292,0.000072967174,0.000009141958,0.00006243528,0.000009060163,0.00006277705,0.000783034],"study_design_scores_gemma":[0.0000031813277,0.000058791484,0.99265313,0.00001990413,0.000009978718,0.006684146,0.00024058599,0.000020671041,0.000044332246,0.000016835418,0.00024526467,0.0000030990936],"about_ca_topic_score_codex":0.003553517,"about_ca_topic_score_gemma":0.0045037363,"teacher_disagreement_score":0.003553517,"about_ca_system_score_codex":0.00045101068,"about_ca_system_score_gemma":0.00039311644,"threshold_uncertainty_score":0.007065654},"labels":[],"label_agreement":null},{"id":"W2600539686","doi":"10.1186/s13023-017-0611-7","title":"Health technology assessment of new drugs for rare disorders in Canada: impact of disease prevalence and cost","year":2017,"lang":"en","type":"letter","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":26,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Toronto East General Hospital; Fraser Institute; Canadian Institute for Health Information","funders":"","keywords":"Reimbursement; Medicine; Prevalence; Drug; Family medicine; Psychiatry; Health care; Internal medicine; Epidemiology","score_opus":0.11207011761403228,"score_gpt":0.41380299565308903,"score_spread":0.30173287803905674,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2600539686","genre_codex":"review","genre_gemma":"commentary","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"commentary","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.31135744,0.3957027,0.0058922363,0.08968112,0.0020022104,0.0031639354,0.100832604,0.0004032019,0.090964556],"genre_scores_gemma":[0.87517416,0.08785399,0.013596688,0.0066716704,0.0011050729,0.00047042768,0.012410803,0.00007102985,0.0026462292],"study_design_codex":"observational","study_design_gemma":"not_applicable","domain_scores_codex":[0.87232965,0.02535896,0.02178074,0.004276211,0.0730736,0.0031807541],"domain_scores_gemma":[0.5094128,0.17602062,0.095668636,0.0060378667,0.20221953,0.010640493],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.050346967,0.0007981798,0.0015607814,0.022202166,0.0022168031,0.0073098466,0.001801305,0.0010037529,0.0019866223],"category_scores_gemma":[0.25290656,0.0006293437,0.0027701317,0.025311904,0.0013902608,0.001583287,0.0021100543,0.0015886409,0.00018461075],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":true,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0016767889,0.00013708849,0.6223228,0.04072435,0.008617021,0.0009560339,0.0035075746,0.0055661993,0.0012312492,0.005929346,0.063935764,0.24539576],"study_design_scores_gemma":[0.00025474632,0.0003186149,0.8769661,0.014462744,0.0043278616,0.0009684839,0.0017992243,0.004353091,0.0011366152,0.0012499309,0.093940236,0.00022240443],"about_ca_topic_score_codex":0.895787,"about_ca_topic_score_gemma":0.93011546,"teacher_disagreement_score":0.9291898,"about_ca_system_score_codex":0.07081018,"about_ca_system_score_gemma":0.15587877,"threshold_uncertainty_score":0.51376617},"labels":[],"label_agreement":null},{"id":"W2602238011","doi":"10.1186/s13023-017-0618-0","title":"Review of 11 national policies for rare diseases in the context of key patient needs","year":2017,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":224,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Pfizer","keywords":"Orphan drug; Legislation; Context (archaeology); European union; Rare disease; Milestone; Legislature; Economic growth; Medicine; Disease; Political science; Business; Geography; Economic policy; Economics","score_opus":0.03598450013550022,"score_gpt":0.33105712249374175,"score_spread":0.29507262235824155,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2602238011","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0075907353,0.72384703,0.0018974153,0.19951048,0.008065591,0.00045436085,0.0021247254,0.00012844236,0.056381255],"genre_scores_gemma":[0.053069305,0.8473709,0.00823536,0.08108164,0.0017352158,0.0007429963,0.0019527371,0.00008488031,0.00572687],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9845185,0.005463999,0.0029482585,0.00071457634,0.0049288394,0.0014257528],"domain_scores_gemma":[0.9487846,0.030042505,0.0054303124,0.0008912928,0.012486866,0.0023643412],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.021581152,0.00059167395,0.0010962386,0.0056192423,0.0022713977,0.0050957,0.0025459041,0.0035951037,0.0054516965],"category_scores_gemma":[0.05885648,0.00058781717,0.001888067,0.0075443625,0.0021329995,0.00390028,0.0027914776,0.0049271467,0.0006737027],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0000921853,0.00012265303,0.0070602614,0.050477963,0.00033195686,0.0010078464,0.0038731468,0.0014894763,0.0003801504,0.14376593,0.35374752,0.43765086],"study_design_scores_gemma":[0.000030127785,0.00004252335,0.010848693,0.09325704,0.0003699247,0.00056311267,0.0025550083,0.00016235966,0.00022977537,0.00434452,0.8875443,0.000052624076],"about_ca_topic_score_codex":0.036878046,"about_ca_topic_score_gemma":0.05521534,"teacher_disagreement_score":0.036878046,"about_ca_system_score_codex":0.016765669,"about_ca_system_score_gemma":0.08842449,"threshold_uncertainty_score":0.12164402},"labels":[],"label_agreement":null},{"id":"W2608444169","doi":"10.1186/s13023-017-0631-3","title":"The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review","year":2017,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":535,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"","keywords":"Duchenne muscular dystrophy; Medicine; Epidemiology; Population; Pediatrics; Quality of life (healthcare); Internal medicine; Environmental health","score_opus":0.09552693273731648,"score_gpt":0.4047893924915542,"score_spread":0.3092624597542377,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2608444169","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0003843761,0.99887925,0.000030039191,0.0002833799,0.000049380895,0.000038409646,0.00017979668,0.0000024680724,0.00015280626],"genre_scores_gemma":[0.0047400114,0.99464744,0.00015424729,0.00020371385,0.000044273755,0.00006367794,0.000109225,0.0000016766954,0.000035792178],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.99356765,0.0020933696,0.0024467222,0.00039410635,0.0012801077,0.00021809085],"domain_scores_gemma":[0.9708937,0.020814518,0.0055882945,0.00022330155,0.0021882565,0.0002919721],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0057130344,0.0010193571,0.005411289,0.01154523,0.0005034882,0.0029056312,0.0016055254,0.0019199573,0.0040081074],"category_scores_gemma":[0.03277267,0.001021858,0.006778423,0.013029777,0.0005889881,0.0021798231,0.0012057355,0.001384028,0.00033740816],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00018572809,0.000022986285,0.0023427214,0.90860015,0.0075191557,0.00012308396,0.0001621314,0.00019132828,0.000080463724,0.00045323087,0.0039333226,0.07638572],"study_design_scores_gemma":[0.00012375409,0.0001514612,0.008784703,0.9255337,0.0356462,0.0005355183,0.0002980948,0.0001070987,0.00007216109,0.00042121974,0.028293042,0.00003295088],"about_ca_topic_score_codex":0.013237289,"about_ca_topic_score_gemma":0.028734528,"teacher_disagreement_score":0.013237289,"about_ca_system_score_codex":0.0041709496,"about_ca_system_score_gemma":0.009173964,"threshold_uncertainty_score":0.03026253},"labels":[],"label_agreement":null},{"id":"W2611263380","doi":"10.1186/s13023-017-0619-z","title":"Initiating an undiagnosed diseases program in the Western Australian public health system","year":2017,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Canadian Institutes of Health Research; Institute of Genetics","funders":"","keywords":"Medicine; Public health; Specialty; Health care; Family medicine; Translational research; Nursing; Pathology","score_opus":0.03628333051657013,"score_gpt":0.32344240759696047,"score_spread":0.28715907708039035,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2611263380","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.8135441,0.002495038,0.0035527467,0.116698034,0.0007733998,0.0036103085,0.001509365,0.0005122477,0.057304706],"genre_scores_gemma":[0.91461915,0.0023915782,0.014360676,0.041264273,0.00045312708,0.0025673113,0.0011962368,0.000053939468,0.02309375],"study_design_codex":"observational","study_design_gemma":"not_applicable","domain_scores_codex":[0.9950147,0.0017937365,0.000314844,0.0003405326,0.0009416463,0.00159455],"domain_scores_gemma":[0.9812262,0.0009142108,0.0012994838,0.0005310734,0.0022594277,0.013769599],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005827253,0.0003012622,0.0002486259,0.000826412,0.003672172,0.002496957,0.0016557123,0.0013496418,0.006170336],"category_scores_gemma":[0.009548467,0.00051657896,0.00052265683,0.0008385198,0.0015310767,0.0017049392,0.011629267,0.0027473685,0.00076598214],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00023998244,0.0033953367,0.5127312,0.0017625486,0.00014119987,0.0035490114,0.042786498,0.000757252,0.004040956,0.008230204,0.073071845,0.34929407],"study_design_scores_gemma":[0.00020656518,0.0015687442,0.8761666,0.0010522237,0.00010181713,0.0009555576,0.021052103,0.0014923471,0.00086042803,0.0016868412,0.09477411,0.00008276065],"about_ca_topic_score_codex":0.25789225,"about_ca_topic_score_gemma":0.31371778,"teacher_disagreement_score":0.25789225,"about_ca_system_score_codex":0.01120712,"about_ca_system_score_gemma":0.08153261,"threshold_uncertainty_score":0.51278234},"labels":[],"label_agreement":null},{"id":"W2732685857","doi":"10.1186/s13023-017-0672-7","title":"Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia","year":2017,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":61,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McMaster University Medical Centre; Children's Hospital of Eastern Ontario","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research; Genome Canada","keywords":"Hypotonia; Spinocerebellar ataxia; Missense mutation; Ataxia; Cerebellar ataxia; Pediatrics; Human genetics; Cohort; Atrophy; Medicine; Age of onset; Genetics; Disease; Pathology; Mutation; Biology; Psychiatry","score_opus":0.06652030282131187,"score_gpt":0.3528110408554061,"score_spread":0.2862907380340942,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2732685857","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.18028483,0.79484355,0.0063635795,0.0027614173,0.002328905,0.00024058225,0.0004666785,0.00036105892,0.012349416],"genre_scores_gemma":[0.44458276,0.53916836,0.0039694915,0.0023297444,0.0058572,0.00011047347,0.00064364565,0.00008902455,0.0032492557],"study_design_codex":"case_report","study_design_gemma":"not_applicable","domain_scores_codex":[0.9992181,0.00010322292,0.0002633475,0.00018650408,0.00012029787,0.00010844908],"domain_scores_gemma":[0.9988674,0.00038942992,0.00035210725,0.000058872887,0.00015052398,0.00018169648],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00046160142,0.0014750262,0.0015105236,0.005108085,0.00071968423,0.0012922764,0.0015677917,0.0018626968,0.0019266944],"category_scores_gemma":[0.0014891196,0.00049224123,0.00067441806,0.004076593,0.0010507046,0.0016796691,0.00075108226,0.0010431649,0.0015336068],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000074379706,0.00012488682,0.020468239,0.0035029803,0.0002167929,0.855663,0.00081161276,0.00040499793,0.0037756334,0.00046809943,0.011684749,0.10280467],"study_design_scores_gemma":[0.000007527967,0.000049611866,0.008131927,0.000444934,0.00011065665,0.9747609,0.00028968873,0.00016180135,0.0002895564,0.0001467732,0.015579441,0.000027191643],"about_ca_topic_score_codex":0.0011188394,"about_ca_topic_score_gemma":0.001440851,"teacher_disagreement_score":0.005108085,"about_ca_system_score_codex":0.0005390183,"about_ca_system_score_gemma":0.00061681756,"threshold_uncertainty_score":0.006445408},"labels":[],"label_agreement":null},{"id":"W2734666342","doi":"10.1186/s13023-017-0680-7","title":"Efficacy of rituximab in non-paraneoplastic autoimmune retinopathy","year":2017,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Autoimmune Neurological Disorders and Treatments","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Université de Montréal","funders":"National Eye Institute; National Cancer Institute; National Institutes of Health; Foundation Fighting Blindness; International Council of Ophthalmology; Crowley Family Foundation; Retina Research Foundation; National Institute on Aging; Research to Prevent Blindness","keywords":"Medicine; Rituximab; Immunosuppression; Retinopathy; Blinding; Visual acuity; Electroretinography; Visual impairment; Ophthalmology; Oncology; Immunology; Internal medicine; Retinal; Antibody; Clinical trial; Diabetes mellitus; Endocrinology","score_opus":0.012973054481691141,"score_gpt":0.27588109924783655,"score_spread":0.26290804476614543,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2734666342","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9717273,0.025549142,0.00022614242,0.00017631298,0.000058316054,0.00007315867,0.000045708493,0.000028926332,0.0021149851],"genre_scores_gemma":[0.99793494,0.0015649081,0.00011551707,0.00007219456,0.0000617043,0.000019324494,0.00006540647,0.000003366716,0.0001626464],"study_design_codex":"design_other","study_design_gemma":"case_report","domain_scores_codex":[0.9996056,0.00021601774,0.00004141995,0.00003945702,0.000052129082,0.000045389465],"domain_scores_gemma":[0.99903214,0.00057951774,0.0001072363,0.00008505675,0.000059323145,0.00013686398],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009687907,0.00029341955,0.00070005906,0.0002186999,0.00017038356,0.00033955922,0.00030424815,0.00030633446,0.0010239058],"category_scores_gemma":[0.0016288279,0.000072865594,0.00038644433,0.00011480675,0.00015865255,0.00031048025,0.00015624985,0.0006409956,0.00019710814],"study_design_candidate":"case_report","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.12316942,0.011200464,0.03577943,0.0023296236,0.0016579573,0.0036096561,0.00045555452,0.0019492466,0.045228716,0.00044123258,0.002344306,0.7718345],"study_design_scores_gemma":[0.040881425,0.48820645,0.3409437,0.0011021554,0.004260521,0.019976811,0.0004568963,0.008437473,0.068802685,0.0009670515,0.02588598,0.00007889992],"about_ca_topic_score_codex":0.00022723632,"about_ca_topic_score_gemma":0.0004160489,"teacher_disagreement_score":0.0010239058,"about_ca_system_score_codex":0.00026849308,"about_ca_system_score_gemma":0.00019953174,"threshold_uncertainty_score":0.005123496},"labels":[],"label_agreement":null},{"id":"W2766356879","doi":"10.1186/s13023-017-0718-x","title":"Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures","year":2017,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":206,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; Universitaire Ziekenhuizen Leuven, KU Leuven; Instituto de Salud Carlos III; European Organisation for Rare Diseases; Patient-Centered Outcomes Research Institute; KU Leuven; National Center for Advancing Translational Sciences; Leids Universitair Medisch Centrum; Universiteit Leiden; Institut National de la Santé et de la Recherche Médicale; National Institutes of Health; University of Birmingham; Medical Center, University of Rochester; Newcastle University; University of Washington; Children's National Hospital; Duchenne Parent Project; Chiesi Farmaceutici; University of Rochester; Pfizer; Northwestern University; Istituto Superiore di Sanità; McMaster University; King's College London; Vrije Universiteit Amsterdam; Parent Project Muscular Dystrophy; National Institute for Health and Care Research","keywords":"Patient-reported outcome; Stakeholder; Outcome (game theory); Disease; Value (mathematics); Medicine; Rare disease; Psychology; Medical education; Nursing; Computer science; Quality of life (healthcare); Public relations; Pathology","score_opus":0.5492244863313144,"score_gpt":0.4533849642184486,"score_spread":0.09583952211286578,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2766356879","genre_codex":"commentary","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00042986858,0.025480833,0.0013551542,0.9680517,0.0037623236,0.000036093494,0.00006360399,0.000016551572,0.000803985],"genre_scores_gemma":[0.034521654,0.08421638,0.034728922,0.8259486,0.016811837,0.0014019686,0.00042639926,0.00033912132,0.0016051462],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.59812486,0.29520315,0.032664843,0.012366544,0.053826228,0.007814454],"domain_scores_gemma":[0.16626807,0.71341723,0.012465108,0.015350062,0.07741969,0.015079912],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.6198406,0.0014501702,0.0039274264,0.0051385993,0.006833644,0.01789353,0.011830768,0.019837564,0.0030852242],"category_scores_gemma":[0.47757876,0.0013286866,0.0046501593,0.0056549,0.045135647,0.03233362,0.019555505,0.07579718,0.0016959832],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00022903281,0.00029697843,0.0038987005,0.0036205025,0.00012158135,0.00018177107,0.022610035,0.0008346368,0.0003192236,0.14474092,0.5302716,0.2928751],"study_design_scores_gemma":[0.00019670928,0.00040632667,0.006138779,0.038772777,0.000109626664,0.00054446876,0.023263799,0.0014667537,0.000645404,0.096063465,0.8317782,0.0006136344],"about_ca_topic_score_codex":0.06569606,"about_ca_topic_score_gemma":0.051897448,"teacher_disagreement_score":0.6198406,"about_ca_system_score_codex":0.030628629,"about_ca_system_score_gemma":0.082192436,"threshold_uncertainty_score":0.46880424},"labels":[],"label_agreement":null},{"id":"W2777648031","doi":"10.1186/s13023-017-0738-6","title":"Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review","year":2017,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of Calgary; University of Alberta","funders":"Canadian Institutes of Health Research","keywords":"Orphan drug; Human genetics; Drug discovery; Drug; Medicine; Business; Knowledge management; Pharmacology; Bioinformatics; Genetics; Computer science; Biology","score_opus":0.0969796574344712,"score_gpt":0.3389881943018784,"score_spread":0.24200853686740717,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2777648031","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0024205802,0.9870639,0.0006337761,0.0037089891,0.00038839562,0.00062676077,0.00021205134,0.000009671929,0.004935806],"genre_scores_gemma":[0.015652554,0.9801726,0.0014692676,0.0012334404,0.00007954956,0.0008509476,0.00016115126,0.000007340364,0.00037309987],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.97334856,0.01518344,0.005797398,0.000798845,0.004111959,0.0007597503],"domain_scores_gemma":[0.8322604,0.14561254,0.008816203,0.0013712572,0.010968384,0.00097119104],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.031624716,0.0008880287,0.002000798,0.014805134,0.0024114605,0.005880397,0.001729887,0.0030969616,0.0034578193],"category_scores_gemma":[0.10663827,0.0009149466,0.003467229,0.016870266,0.002058341,0.006634127,0.0036696019,0.0024829663,0.00041925683],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0001425694,0.00007128005,0.0031817455,0.5113782,0.0011075224,0.000983454,0.018543303,0.0003999869,0.00024229565,0.0062993905,0.016340548,0.44130975],"study_design_scores_gemma":[0.00001248718,0.000040129187,0.0016544381,0.8928789,0.001199085,0.0004502729,0.0073622894,0.00006200748,0.00011773148,0.00069577433,0.09549852,0.000028326513],"about_ca_topic_score_codex":0.025640354,"about_ca_topic_score_gemma":0.06469769,"teacher_disagreement_score":0.031624716,"about_ca_system_score_codex":0.009212382,"about_ca_system_score_gemma":0.04023831,"threshold_uncertainty_score":0.1672495},"labels":[],"label_agreement":null},{"id":"W2788702966","doi":"10.1186/s13023-018-0762-1","title":"Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDR","year":2018,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Communications Research Centre Canada; Canadian Agency for Drugs and Technologies in Health","funders":"","keywords":"Medicine; Orphan drug; Reimbursement; Rare disease; Drug; Clinical trial; Disease; Randomized controlled trial; Internal medicine; Intensive care medicine; Pediatrics; Health care; Pharmacology; Bioinformatics","score_opus":0.02098052564769097,"score_gpt":0.3050485355647934,"score_spread":0.2840680099171024,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2788702966","genre_codex":"empirical","genre_gemma":"review","domain_codex":null,"domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":"methods","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.35915852,0.34282857,0.012172657,0.040254686,0.013417656,0.0066772094,0.1622551,0.001056571,0.062179115],"genre_scores_gemma":[0.8457788,0.058782987,0.021859828,0.019858977,0.007682234,0.0029013788,0.035280425,0.00058086816,0.0072743646],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.7891023,0.07117422,0.08229733,0.01131125,0.04246502,0.0036498727],"domain_scores_gemma":[0.2794796,0.43448472,0.21610112,0.016925095,0.043949936,0.009059545],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.08585478,0.00077141525,0.002389093,0.016782956,0.0017222761,0.005359535,0.0018507994,0.0024217314,0.006205081],"category_scores_gemma":[0.4283971,0.0008585083,0.004300476,0.017458126,0.0015035141,0.002702352,0.0037504912,0.0022669404,0.0011683233],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_system_candidate":true,"about_ca_system_consensus":false,"study_design_scores_codex":[0.006505739,0.00029821892,0.55860233,0.063962944,0.011856085,0.0052966643,0.0047438936,0.0016901167,0.0024291838,0.005075534,0.1393217,0.20021759],"study_design_scores_gemma":[0.0011935334,0.0012854297,0.643254,0.032120243,0.00725258,0.011818692,0.0021897783,0.0019371519,0.0017955683,0.0028000306,0.293968,0.00038498366],"about_ca_topic_score_codex":0.0045832503,"about_ca_topic_score_gemma":0.008168448,"teacher_disagreement_score":0.99646306,"about_ca_system_score_codex":0.0035369566,"about_ca_system_score_gemma":0.0075093624,"threshold_uncertainty_score":0.45404893},"labels":[],"label_agreement":null},{"id":"W2795700514","doi":"10.1186/s13023-018-0759-9","title":"Common drug review recommendations for orphan drugs in Canada: basis of recommendations and comparison with similar reviews in Quebec, Australia, Scotland and New Zealand","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":19,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"","keywords":"Orphan drug; Reimbursement; Medicine; Family medicine; Ranking (information retrieval); Actuarial science; Bioinformatics; Business; Political science; Health care; Biology; Computer science; Information retrieval","score_opus":0.20055535689568288,"score_gpt":0.4082766250484108,"score_spread":0.2077212681527279,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2795700514","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":"evaluation","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":"evaluation","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.4292901,0.35169384,0.0033892305,0.04840359,0.001295945,0.002983436,0.08668325,0.0006240944,0.07563654],"genre_scores_gemma":[0.8737594,0.08850528,0.010850615,0.005033465,0.0003162674,0.0005223421,0.016428484,0.00011737863,0.004466958],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9567394,0.006238637,0.010270493,0.0030133259,0.021593967,0.0021441411],"domain_scores_gemma":[0.71472424,0.047975205,0.060934894,0.0042676865,0.16050945,0.011588479],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.024074057,0.00045260869,0.0010897067,0.017140538,0.0020028148,0.0045252666,0.0022192355,0.0009651993,0.0021396605],"category_scores_gemma":[0.1344708,0.0005269997,0.0014965293,0.024206122,0.0010559296,0.0014060149,0.001711872,0.0009815389,0.00036630852],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":true,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010405612,0.00009438714,0.6218456,0.025471259,0.0021093704,0.00118889,0.0045760516,0.00087659736,0.0016132437,0.0019117618,0.09582973,0.24344258],"study_design_scores_gemma":[0.00011167753,0.00015051033,0.8749745,0.010611542,0.0013567416,0.0009501058,0.0031148896,0.0014253524,0.00078120566,0.00021929698,0.10615249,0.00015163916],"about_ca_topic_score_codex":0.9011594,"about_ca_topic_score_gemma":0.9543695,"teacher_disagreement_score":0.9759259,"about_ca_system_score_codex":0.038587168,"about_ca_system_score_gemma":0.1329244,"threshold_uncertainty_score":0.27997082},"labels":[],"label_agreement":null},{"id":"W2799963223","doi":"10.1186/s13023-018-0815-5","title":"Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies","year":2018,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","field":"Medicine","cited_by":167,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Toronto","funders":"","keywords":"Angioedema; Epidemiology; Medicine; Hereditary angioedema; Population; Bradykinin; Internal medicine; Incidence (geometry); Immunology; Environmental health","score_opus":0.14546115606096988,"score_gpt":0.39326319245594615,"score_spread":0.24780203639497628,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2799963223","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.033308197,0.95970076,0.0010936809,0.00055831025,0.00014442744,0.00028524184,0.0044324184,0.00002013976,0.00045684478],"genre_scores_gemma":[0.41156635,0.5776061,0.004067203,0.0011264359,0.0002552477,0.0012100654,0.0039312,0.00003820718,0.00019921135],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.9678419,0.009254166,0.015630838,0.003280336,0.0034454674,0.00054728455],"domain_scores_gemma":[0.8735754,0.08148292,0.03326434,0.0038519455,0.007107788,0.0007176397],"candidate_categories":["metaepi_broad"],"consensus_categories":[],"category_scores_codex":[0.019175436,0.0011846607,0.006015174,0.017383497,0.0005851628,0.0024482312,0.0011785317,0.0013102326,0.0020085932],"category_scores_gemma":[0.061198182,0.0011972819,0.01077113,0.024407761,0.00082340656,0.0021453195,0.0018193248,0.0010402838,0.00020362336],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010082207,0.000056114168,0.26312044,0.510808,0.18714131,0.00049711455,0.0006159413,0.00051806896,0.00052754796,0.0007706227,0.0023675368,0.032568987],"study_design_scores_gemma":[0.00056645786,0.00047841587,0.31695974,0.2675042,0.39327967,0.0022423875,0.0009880275,0.00096143037,0.000441583,0.001518817,0.014924521,0.00013485167],"about_ca_topic_score_codex":0.00382144,"about_ca_topic_score_gemma":0.008055656,"teacher_disagreement_score":0.9939848,"about_ca_system_score_codex":0.0014979038,"about_ca_system_score_gemma":0.0032991045,"threshold_uncertainty_score":0.10141063},"labels":[],"label_agreement":null},{"id":"W2800490336","doi":"10.1186/s13023-018-0813-7","title":"Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":36,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hôpital du Sacré-Cœur de Montréal; Université de Montréal","funders":"Amicus Therapeutics","keywords":"Biomarker; Fabry disease; Medicine; Tenofovir; Diarrhea; Internal medicine; Clinical trial; Human genetics; Disease; Oncology; Bioinformatics; Biology; Virology; Genetics; Human immunodeficiency virus (HIV)","score_opus":0.029887148143751957,"score_gpt":0.3474753222488756,"score_spread":0.31758817410512363,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2800490336","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.98554975,0.0070474977,0.00034220764,0.00074040104,0.000075519536,0.00095278776,0.0026942643,0.000072201925,0.0025253308],"genre_scores_gemma":[0.9911794,0.0017786666,0.00077726616,0.0008046538,0.00011520688,0.0006220875,0.004145591,0.000008457618,0.00056865223],"study_design_codex":"randomized_trial","study_design_gemma":"randomized_trial","domain_scores_codex":[0.99934405,0.00037385616,0.00005156736,0.000060173064,0.000095112104,0.00007521533],"domain_scores_gemma":[0.99882275,0.00029556986,0.00041034148,0.00009340928,0.00011842536,0.00025946874],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0028085809,0.00069049996,0.0014172703,0.00019563385,0.00023466615,0.0006709069,0.00034772465,0.0006316518,0.0020114281],"category_scores_gemma":[0.0022323458,0.00017079606,0.0014787483,0.00035756413,0.0003911811,0.000403953,0.0003771542,0.0010706123,0.00023442309],"study_design_candidate":"randomized_trial","study_design_consensus":"randomized_trial","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.7931914,0.0042458232,0.06916417,0.001390818,0.006301657,0.00018137082,0.00018201335,0.0021815037,0.0069433455,0.0003153113,0.007204018,0.108698584],"study_design_scores_gemma":[0.5285592,0.16012545,0.2910776,0.00030299425,0.005852751,0.00051108224,0.00011875387,0.0039530285,0.002373377,0.00079609855,0.0062497845,0.00007989723],"about_ca_topic_score_codex":0.0008501051,"about_ca_topic_score_gemma":0.0030924205,"teacher_disagreement_score":0.0028085809,"about_ca_system_score_codex":0.0006116591,"about_ca_system_score_gemma":0.0009013339,"threshold_uncertainty_score":0.014853418},"labels":[],"label_agreement":null},{"id":"W2804385143","doi":"10.1186/s13023-018-0785-7","title":"Consensus clinical management guidelines for Niemann-Pick disease type C","year":2018,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":293,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Vancouver General Hospital","funders":"European Commission; Consumers, Health, Agriculture and Food Executive Agency; University College London; University Hospitals Birmingham NHS Foundation Trust","keywords":"Guideline; Disease; Medicine; Life expectancy; Niemann–Pick disease, type C; Newborn screening; Health care; Incidence (geometry); Pediatrics; Intensive care medicine; Pathology; Population","score_opus":0.2197373030706665,"score_gpt":0.49001447994857855,"score_spread":0.2702771768779121,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2804385143","genre_codex":"commentary","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0044238865,0.29294887,0.07877139,0.44700688,0.026120752,0.018689126,0.012285454,0.002240304,0.1175133],"genre_scores_gemma":[0.036940385,0.25127006,0.47453642,0.13010883,0.008482938,0.035275314,0.035456005,0.00070125744,0.027228797],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.96512926,0.014737845,0.011951307,0.0010521011,0.00572447,0.0014050998],"domain_scores_gemma":[0.9094115,0.01870793,0.008321556,0.0014616358,0.05828218,0.0038152018],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.026447544,0.0017735765,0.0035433974,0.0094212275,0.0029671902,0.00448154,0.008839109,0.010967995,0.0109135425],"category_scores_gemma":[0.09911626,0.0010848913,0.0063283495,0.005947321,0.0016141752,0.0039015182,0.0046366425,0.009289185,0.0074254167],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00013627566,0.00022673923,0.0017420225,0.018541025,0.0002747014,0.0011089328,0.0012045664,0.0017346849,0.0005242145,0.011711857,0.6354741,0.32732087],"study_design_scores_gemma":[0.00041134638,0.00015265083,0.003499742,0.09970721,0.00061523914,0.0015492354,0.0009640416,0.0013579888,0.0005437478,0.016323552,0.8746953,0.00017992718],"about_ca_topic_score_codex":0.019020282,"about_ca_topic_score_gemma":0.028705368,"teacher_disagreement_score":0.026447544,"about_ca_system_score_codex":0.006893848,"about_ca_system_score_gemma":0.030727467,"threshold_uncertainty_score":0.13986969},"labels":[],"label_agreement":null},{"id":"W2804517361","doi":"10.1186/s13023-018-0811-9","title":"Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":40,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Medicine; Neurofibromatosis; Natural history; Optic chiasm; Optic nerve; Asymptomatic; Confidence interval; Radiology; Surgery; Internal medicine; Ophthalmology","score_opus":0.009653729773909015,"score_gpt":0.21746652128611996,"score_spread":0.20781279151221094,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2804517361","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99799585,0.00075109204,0.00015326998,0.000046502377,0.000004441096,0.000004880814,0.00017701075,0.0000111728805,0.00085592404],"genre_scores_gemma":[0.9992987,0.00023338605,0.00018908255,0.000014504716,0.000017552766,0.0000027240665,0.00017966353,0.0000028698983,0.0000616087],"study_design_codex":"observational","study_design_gemma":"case_report","domain_scores_codex":[0.9997974,0.000046032288,0.000030077585,0.00003591726,0.00004861014,0.00004198997],"domain_scores_gemma":[0.9980546,0.00041992578,0.0010569133,0.00007645732,0.0001977756,0.00019444885],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005162157,0.00025316025,0.0002198953,0.0016760613,0.0001636417,0.00046068055,0.00023281465,0.0003698991,0.0008961397],"category_scores_gemma":[0.0032503,0.00020481895,0.00021445156,0.00066888746,0.00022756959,0.0005818958,0.00021565745,0.00030422208,0.00022860605],"study_design_candidate":"case_report","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00009748291,0.000008629381,0.99558455,0.000007307273,0.000020883053,0.00077071704,0.000054566946,0.00006986304,0.00078799995,0.000010141884,0.000093298346,0.002494574],"study_design_scores_gemma":[0.000003735686,0.0000630358,0.9912595,0.000007817534,0.000023369135,0.007545398,0.000093041905,0.00025913955,0.00037454892,0.000021856884,0.00034461034,0.000004004066],"about_ca_topic_score_codex":0.0020898588,"about_ca_topic_score_gemma":0.0029281115,"teacher_disagreement_score":0.0020898588,"about_ca_system_score_codex":0.0003080513,"about_ca_system_score_gemma":0.00015460554,"threshold_uncertainty_score":0.0041553974},"labels":[],"label_agreement":null},{"id":"W2805862373","doi":"10.1186/s13023-018-0825-3","title":"Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation; University of Toronto; North York General Hospital; Child and Family Research Institute; University of Ottawa; Hospital for Sick Children; University of British Columbia; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"National Eye Institute; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Hypotonia; Pediatrics; Medicine; Atrophy; Dystonia; Lethargy; Movement disorders; Chorea; Global developmental delay; Pathology; Internal medicine; Phenotype; Psychiatry; Genetics; Biology","score_opus":0.006009459774284843,"score_gpt":0.24839069088401658,"score_spread":0.24238123110973173,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2805862373","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99890935,0.00029470577,0.00019286879,0.000023366618,0.0000036185527,0.000008589265,0.00014174891,0.000009583461,0.00041623996],"genre_scores_gemma":[0.99924684,0.00011453294,0.00017088273,0.00003405886,0.000014283322,0.0000056104345,0.00018266602,0.0000036850488,0.00022747941],"study_design_codex":"observational","study_design_gemma":"case_report","domain_scores_codex":[0.99958616,0.000053316642,0.00006294133,0.000113005306,0.00008986811,0.000094720424],"domain_scores_gemma":[0.99899465,0.00017974134,0.0004983524,0.000031802327,0.00008427159,0.00021107949],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00027906697,0.00089488283,0.0004520678,0.0006671123,0.0005477781,0.00036821474,0.000357709,0.00051636825,0.0021520867],"category_scores_gemma":[0.0012293098,0.00022586575,0.0002893619,0.000698663,0.00044976067,0.00028426442,0.00054682035,0.00029604798,0.0005222004],"study_design_candidate":"case_report","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00031045033,0.00011748345,0.9366367,0.00007229991,0.00012089494,0.04016951,0.00037424572,0.000096510215,0.012803573,0.000072744624,0.0005512862,0.008674367],"study_design_scores_gemma":[0.00004994258,0.00052903563,0.81389475,0.000023460872,0.0000531851,0.18275198,0.0002687629,0.00015607332,0.0014176919,0.000085675405,0.0007571042,0.000012322706],"about_ca_topic_score_codex":0.0015083309,"about_ca_topic_score_gemma":0.0023129762,"teacher_disagreement_score":0.0021520867,"about_ca_system_score_codex":0.0002702263,"about_ca_system_score_gemma":0.0003067755,"threshold_uncertainty_score":0.007199466},"labels":[],"label_agreement":null},{"id":"W2810528414","doi":"10.1186/s13023-018-0851-1","title":"Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases","year":2018,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia; McGill University Health Centre; BC Children's Hospital; Newborn Screening Ontario; Children's Hospital of Eastern Ontario; Ottawa Hospital; University of Ottawa","funders":"Canadian Institutes of Health Research","keywords":"Psychological intervention; Systematic review; Focus group; Relevance (law); Clinical study design; Research design; Narrative review; Meta-analysis; Narrative; Psychology; MEDLINE; Management science; Medicine; Clinical trial; Psychotherapist; Sociology; Nursing; Social science; Political science; Pathology","score_opus":0.17000992118927322,"score_gpt":0.35949323708365427,"score_spread":0.18948331589438105,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2810528414","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":"methods","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.022580266,0.75209284,0.117539465,0.058049504,0.0036740233,0.0337755,0.002831759,0.00033314526,0.009123507],"genre_scores_gemma":[0.20165804,0.43613607,0.27190265,0.021481406,0.00093066884,0.06489922,0.001498715,0.00014740493,0.0013457938],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.7126522,0.21943112,0.04605717,0.005202604,0.015135734,0.0015210981],"domain_scores_gemma":[0.43917188,0.48868075,0.031781975,0.012620668,0.026329929,0.0014147924],"candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.31569853,0.002596996,0.0040609147,0.0239616,0.0033559466,0.010531068,0.004760251,0.0050410666,0.004158469],"category_scores_gemma":[0.45993888,0.0025244758,0.010606151,0.014377402,0.0034752584,0.016002411,0.0080271335,0.0044591157,0.0005664571],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0007390654,0.000079714766,0.0040814546,0.71231616,0.016613014,0.0010305386,0.043690175,0.0014740814,0.0014595796,0.025581844,0.010079606,0.18285479],"study_design_scores_gemma":[0.00041059247,0.00031947286,0.0014963658,0.86041903,0.025066126,0.0005234932,0.014799272,0.0011781104,0.0016302293,0.019861897,0.07415215,0.00014327186],"about_ca_topic_score_codex":0.0033236472,"about_ca_topic_score_gemma":0.010635243,"teacher_disagreement_score":0.6843015,"about_ca_system_score_codex":0.013464057,"about_ca_system_score_gemma":0.041385096,"threshold_uncertainty_score":0.8438655},"labels":[],"label_agreement":null},{"id":"W2883589653","doi":"10.1186/s13023-018-0860-0","title":"ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neuroscience of respiration and sleep","field":"Neuroscience","cited_by":36,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia; Alberta Children's Hospital; Child and Family Research Institute; University of Alberta; University of Calgary","funders":"Canadian Institutes of Health Research; Alberta Innovates - Health Solutions; BC Children’s Hospital Foundation","keywords":"Proband; Hypoventilation; Medicine; Obesity; Etiology; Disease; Obesity hypoventilation syndrome; Sanger sequencing; Bioinformatics; Candidate gene; Genetic testing; Pediatrics; Genetics; Internal medicine; Biology; Mutation; Gene; Respiratory system","score_opus":0.05513135518064597,"score_gpt":0.3433767189915531,"score_spread":0.2882453638109071,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2883589653","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9980562,0.0004832024,0.00019158372,0.000046272926,0.000008821696,0.000023028082,0.00021900318,0.000008354875,0.00096357544],"genre_scores_gemma":[0.99810237,0.00045277944,0.0006027343,0.000046020643,0.0000327171,0.00002962525,0.0006101777,0.000005699543,0.00011790817],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99955803,0.000091390684,0.00005500303,0.00013734632,0.000073229916,0.000084833315],"domain_scores_gemma":[0.99926096,0.0002776336,0.00017497009,0.000038733742,0.00005844238,0.00018912501],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00033510022,0.00046604796,0.00040992818,0.0021687371,0.00031730757,0.00038300434,0.0003561073,0.0005373901,0.0023362848],"category_scores_gemma":[0.0015363165,0.00014739929,0.00021938869,0.0009301224,0.00055519195,0.00038643915,0.0010114012,0.00034336332,0.00036240657],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0019452033,0.0003343797,0.8866686,0.00018816008,0.00023881672,0.04749581,0.00096153317,0.00042302805,0.027922673,0.0012341593,0.0006960294,0.03189154],"study_design_scores_gemma":[0.000088148445,0.00066002406,0.90623736,0.000042037685,0.000069783375,0.08872981,0.00081469497,0.00046913096,0.0010656649,0.0006221415,0.0011753293,0.00002600405],"about_ca_topic_score_codex":0.000687552,"about_ca_topic_score_gemma":0.0005187382,"teacher_disagreement_score":0.0023362848,"about_ca_system_score_codex":0.00017346654,"about_ca_system_score_gemma":0.00025562668,"threshold_uncertainty_score":0.007815659},"labels":[],"label_agreement":null},{"id":"W2883703863","doi":"10.1186/s13023-018-0871-x","title":"Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","field":"Medicine","cited_by":34,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"CSL Behring","keywords":"Alexithymia; Hereditary angioedema; Medicine; Toronto Alexithymia Scale; Mood; Anxiety; Internal medicine; Disease; Clinical psychology; Psychology; Psychiatry; Immunology","score_opus":0.005791830786566713,"score_gpt":0.24080096267839918,"score_spread":0.23500913189183245,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2883703863","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9995726,0.000110563255,0.000018952158,0.000009729987,0.0000022451077,0.000021022226,0.00011824163,8.176193e-7,0.00014583248],"genre_scores_gemma":[0.9993581,0.00013277578,0.000082772916,0.00002492633,0.000010351248,0.000046713118,0.00026561852,0.000001232773,0.00007751503],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9994641,0.00016385103,0.000054659035,0.000110459354,0.00008556616,0.00012132258],"domain_scores_gemma":[0.9989096,0.00016720944,0.0004722194,0.00006929571,0.00010949111,0.00027218115],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007928484,0.00059776165,0.00062758033,0.0008804086,0.0007441112,0.000708939,0.0002956579,0.0006499853,0.0011914717],"category_scores_gemma":[0.0012567305,0.00043205265,0.0006604534,0.0011432448,0.00047737264,0.0005276977,0.00056697946,0.00074163347,0.00022440609],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00012105652,0.0001610399,0.9988637,0.000010826333,0.000024058907,0.0001238212,0.00015060842,0.000011947735,0.000111333975,0.000006272808,0.000033059554,0.0003822134],"study_design_scores_gemma":[0.000023352479,0.000619753,0.9981335,0.000007882247,0.000027838489,0.00044799232,0.00053183106,0.00003460204,0.00003304191,0.000005509333,0.00013074274,0.0000038771277],"about_ca_topic_score_codex":0.0036742156,"about_ca_topic_score_gemma":0.003676159,"teacher_disagreement_score":0.0036742156,"about_ca_system_score_codex":0.00045182998,"about_ca_system_score_gemma":0.0004337334,"threshold_uncertainty_score":0.007305622},"labels":[],"label_agreement":null},{"id":"W2884348562","doi":"10.1186/s13023-018-0845-z","title":"Acid ceramidase deficiency: Farber disease and SMA-PME","year":2018,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":135,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Toronto","funders":"","keywords":"SMA*; Medicine; Enzyme replacement therapy; Progressive myoclonus epilepsy; Disease; Rare disease; Ketogenic diet; Spinal muscular atrophy; Lysosomal storage disorders; Pediatrics; Bioinformatics; Internal medicine; Pathology; Epilepsy; Biology; Psychiatry","score_opus":0.03984787153192859,"score_gpt":0.34219845274241706,"score_spread":0.30235058121048847,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2884348562","genre_codex":"empirical","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.75963676,0.19491097,0.007280896,0.008831041,0.00072213187,0.0001958728,0.00036719965,0.00025209325,0.027803069],"genre_scores_gemma":[0.9648972,0.021828596,0.0034991745,0.002269003,0.00092718366,0.000042892654,0.00041872545,0.000019498604,0.0060976944],"study_design_codex":"case_report","study_design_gemma":"not_applicable","domain_scores_codex":[0.9997453,0.00003176079,0.000025963373,0.00009551842,0.00004623998,0.000055159067],"domain_scores_gemma":[0.99970645,0.0000697322,0.0000832855,0.000012869497,0.000025567118,0.00010196142],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00036949644,0.0012306407,0.0010376406,0.00084122596,0.00051768654,0.00053710974,0.0004371062,0.0030716455,0.0022990252],"category_scores_gemma":[0.0008716621,0.00024533953,0.00044947883,0.0005886284,0.0008375647,0.0010085414,0.00071335473,0.001013782,0.00064277893],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010463933,0.000264234,0.03684409,0.0011318044,0.00019614119,0.8420497,0.0007127117,0.00045779633,0.048265357,0.0058087097,0.0043662405,0.05885678],"study_design_scores_gemma":[0.00009432732,0.00021558756,0.027201075,0.00026322305,0.00008112484,0.9485009,0.00020721725,0.00029526567,0.0036461141,0.002498858,0.016952481,0.00004387088],"about_ca_topic_score_codex":0.0010735844,"about_ca_topic_score_gemma":0.0010094215,"teacher_disagreement_score":0.0030716455,"about_ca_system_score_codex":0.0006375004,"about_ca_system_score_gemma":0.00031027783,"threshold_uncertainty_score":0.007690966},"labels":[],"label_agreement":null},{"id":"W2887704123","doi":"10.1186/s13023-018-0879-2","title":"Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center","year":2018,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Pontificia Universidad Javeriana; Departamento Administrativo de Ciencia, Tecnología e Innovación (COLCIENCIAS); Craft Ontario","keywords":"Medicine; Human genetics; Inclusion (mineral); Translational research; Health professionals; MEDLINE; Family medicine; Medical education; Health care; Pathology; Political science; Psychology; Biology","score_opus":0.04171686826956296,"score_gpt":0.3693515253444883,"score_spread":0.32763465707492534,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2887704123","genre_codex":"empirical","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.899425,0.045495495,0.005590672,0.02080448,0.0011535706,0.00037742543,0.00072494993,0.00029708477,0.02613131],"genre_scores_gemma":[0.94745487,0.029396273,0.006922723,0.0051500043,0.00052079256,0.00013395725,0.00088587013,0.00012339285,0.009412043],"study_design_codex":"design_other","study_design_gemma":"observational","domain_scores_codex":[0.9971112,0.0013928766,0.00016711849,0.0003440876,0.00035331037,0.00063141173],"domain_scores_gemma":[0.99200374,0.0011102943,0.0007582421,0.00036360303,0.0013491601,0.004414841],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0034947977,0.0007592034,0.0004108049,0.00092579104,0.0018545425,0.0017558753,0.0011986981,0.0012377901,0.0035091683],"category_scores_gemma":[0.0064557167,0.00029437811,0.00035310414,0.00090636837,0.0013839449,0.0009492687,0.0032581913,0.0010879231,0.0006100016],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00088623003,0.0024888713,0.30719206,0.0027286955,0.00013338235,0.034726515,0.09072223,0.0006660031,0.00999082,0.0027058963,0.03345138,0.5143079],"study_design_scores_gemma":[0.00014439951,0.0027496885,0.46330234,0.0025945564,0.00023814337,0.0440092,0.12400036,0.00066851825,0.00582575,0.0010907901,0.35504672,0.00032953982],"about_ca_topic_score_codex":0.03745046,"about_ca_topic_score_gemma":0.04443889,"teacher_disagreement_score":0.03745046,"about_ca_system_score_codex":0.0046594557,"about_ca_system_score_gemma":0.00940486,"threshold_uncertainty_score":0.07446498},"labels":[],"label_agreement":null},{"id":"W2889061023","doi":"10.1186/s13023-018-0890-7","title":"Can untreated PKU patients escape from intellectual disability? A systematic review","year":2018,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; University of British Columbia","funders":"","keywords":"Intellectual disability; Borderline intellectual functioning; Pediatrics; Medicine; Intellectual impairment; Phenylalanine hydroxylase; Newborn screening; MEDLINE; Phenylketonurias; Intelligence quotient; Psychiatry; Phenylalanine; Cognition; Genetics","score_opus":0.012740986065129379,"score_gpt":0.27178497740496516,"score_spread":0.2590439913398358,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2889061023","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0018625812,0.9965527,0.00009047937,0.00026106773,0.000091043985,0.00029160705,0.0005998534,0.0000061757937,0.00024433088],"genre_scores_gemma":[0.018462392,0.9795903,0.0002728232,0.0004746025,0.00010213907,0.0005650209,0.00042735433,0.0000035858477,0.000101771344],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.9963301,0.0008688424,0.0017446589,0.00035840334,0.0005559207,0.00014205095],"domain_scores_gemma":[0.9824133,0.012044046,0.003605438,0.00020099431,0.0015234534,0.00021278363],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0037483114,0.0012056413,0.007730902,0.0114253005,0.0006995505,0.0021304027,0.0019156385,0.0021264115,0.005644889],"category_scores_gemma":[0.021609925,0.00084526354,0.0051318146,0.012283019,0.0007987893,0.0027849202,0.0011521232,0.0008204299,0.00032955364],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00019342669,0.000015239177,0.0015520608,0.96892595,0.0053914855,0.00024333483,0.00020657369,0.000040231676,0.00008154327,0.00012506287,0.0013927856,0.021832388],"study_design_scores_gemma":[0.00028442914,0.00022173894,0.009157215,0.9152405,0.05743578,0.0013432124,0.0005750012,0.000086711996,0.000115763774,0.0002483292,0.015241348,0.00004982895],"about_ca_topic_score_codex":0.005963816,"about_ca_topic_score_gemma":0.015424068,"teacher_disagreement_score":0.0114253005,"about_ca_system_score_codex":0.0027148435,"about_ca_system_score_gemma":0.0073772734,"threshold_uncertainty_score":0.019823194},"labels":[],"label_agreement":null},{"id":"W2890882905","doi":"10.1186/s13023-018-0889-0","title":"Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":26,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Calgary; Centre hospitalier de l'Université Laval; Western University","funders":"National Institute of Neurological Disorders and Stroke; Sanofi Genzyme; Maryland Sea Grant, University of Maryland; Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja; National Center of Neurology and Psychiatry; National Institutes of Health; Newcastle University; Ministero della Salute; Muscular Dystrophy UK; Medical Research Council; Biogen; ALS Society of Canada; Deutsche Gesellschaft für Muskelkranke; University of Rochester; Sanofi","keywords":"Myotonic dystrophy; Medicine; Disease; Family medicine; Variety (cybernetics); Muscular dystrophy; Neuromuscular disease; Pediatrics; Pathology","score_opus":0.02166211127727411,"score_gpt":0.30500910846550267,"score_spread":0.28334699718822853,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2890882905","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.8352889,0.0027989731,0.0068465755,0.13349691,0.0012244944,0.0007424346,0.0008373609,0.00012245441,0.018642003],"genre_scores_gemma":[0.9588799,0.002137542,0.005675321,0.026363134,0.0005613568,0.00071349245,0.00071702246,0.00014184561,0.004810516],"study_design_codex":"observational","study_design_gemma":"case_report","domain_scores_codex":[0.96967757,0.020632116,0.0018960953,0.0019231765,0.0025941834,0.0032769137],"domain_scores_gemma":[0.9230535,0.03242012,0.012165553,0.006379381,0.0067836368,0.019197755],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.03800994,0.00048288863,0.00047064712,0.00197752,0.007975154,0.0053393496,0.0016979584,0.005412557,0.0053861844],"category_scores_gemma":[0.057959653,0.00076019304,0.0011063847,0.0033832688,0.004211794,0.006920584,0.010934873,0.006899325,0.0007911142],"study_design_candidate":"case_report","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00029179797,0.0011194373,0.51659685,0.00063515827,0.00019317503,0.12906957,0.18016547,0.0003709861,0.00097398413,0.019979969,0.08305525,0.067548335],"study_design_scores_gemma":[0.00020876466,0.00097494264,0.17552073,0.0031376802,0.00018408813,0.15601113,0.42383605,0.0013138155,0.0010181536,0.0065937922,0.23081945,0.00038137907],"about_ca_topic_score_codex":0.00855766,"about_ca_topic_score_gemma":0.01778622,"teacher_disagreement_score":0.03800994,"about_ca_system_score_codex":0.004068839,"about_ca_system_score_gemma":0.008550938,"threshold_uncertainty_score":0.20101821},"labels":[],"label_agreement":null},{"id":"W2890915487","doi":"10.1186/s13023-018-0898-z","title":"From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":34,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Université de Sherbrooke","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Muscular Dystrophy Canada","keywords":"Rating scale; Physical medicine and rehabilitation; Balance (ability); Spastic; Ataxia; Medicine; Population; Berg Balance Scale; Physical therapy; Psychology; Audiology; Cerebral palsy; Developmental psychology; Psychiatry","score_opus":0.03490702553893413,"score_gpt":0.29406757703319436,"score_spread":0.2591605514942602,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2890915487","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9994474,0.000067072455,0.00005488832,0.000008726512,0.0000019805896,0.000017694603,0.00020983673,0.0000014783766,0.00019085892],"genre_scores_gemma":[0.9994773,0.000026227563,0.000056562356,0.000013154898,0.0000025365375,0.000030510075,0.00028302145,9.005443e-7,0.00010979705],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9993581,0.00018603032,0.00010670238,0.00014741604,0.00012645026,0.00007535029],"domain_scores_gemma":[0.9989491,0.00022712513,0.0003949196,0.000054752865,0.00021524784,0.00015880239],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0010061848,0.0003012774,0.00043120628,0.0008430153,0.0004184894,0.0005239969,0.00025127325,0.0004694459,0.0009700079],"category_scores_gemma":[0.0018411401,0.0001604026,0.00037523985,0.000650935,0.0002772107,0.0005346643,0.00046879036,0.0002886191,0.00025973064],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00009528798,0.000058547437,0.9986401,0.000010771526,0.000022737588,0.000072787974,0.00026052282,0.000014084926,0.000114333685,0.0000059856197,0.000031207084,0.0006736784],"study_design_scores_gemma":[0.0000063850844,0.0004001974,0.9983897,0.0000056899835,0.000012447604,0.00027886787,0.0006541114,0.000083102306,0.00003110253,0.000010990744,0.00012333946,0.00000404502],"about_ca_topic_score_codex":0.0025883634,"about_ca_topic_score_gemma":0.0035838766,"teacher_disagreement_score":0.9974116,"about_ca_system_score_codex":0.0003268244,"about_ca_system_score_gemma":0.0002467226,"threshold_uncertainty_score":0.0053212643},"labels":[],"label_agreement":null},{"id":"W2891629749","doi":"10.1186/s13023-019-1004-x","title":"Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"National Institute of Dental and Craniofacial Research; National Institute of Arthritis and Musculoskeletal and Skin Diseases; University of California, Los Angeles; National Institutes of Health; Rare Diseases Clinical Research Network; Hospital for Special Surgery; University of Nebraska Medical Center; University of Washington; University of South Florida; National Center for Advancing Translational Sciences; Banting and Best Diabetes Centre, University of Toronto; Shriners Hospitals for Children; McGill University; Osteogenesis Imperfecta Foundation","keywords":"Medicine; Patient-Reported Outcomes Measurement Information System; Psychological intervention; Population; Disease; Disease management; Patient-reported outcome; Health care; Family medicine; Patient satisfaction; Construct validity; Quality of life (healthcare); Gerontology; Physical therapy; Clinical psychology; Nursing; Psychometrics; Pathology","score_opus":0.10832574407423197,"score_gpt":0.3494179998806925,"score_spread":0.24109225580646054,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2891629749","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9972197,0.00006835336,0.00057659735,0.00010778575,0.000009849039,0.0011500865,0.00021335536,0.0000060299853,0.00064829906],"genre_scores_gemma":[0.99364567,0.00009636171,0.003140912,0.00014007998,0.000019205832,0.0024483104,0.00027962515,0.0000042360152,0.00022568631],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9951486,0.0033200495,0.0004069181,0.00028572956,0.00054142595,0.00029727328],"domain_scores_gemma":[0.9888359,0.0052299458,0.0017918663,0.00076871586,0.00216249,0.0012111176],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.012436259,0.00037584326,0.0004476953,0.0006206991,0.0009818091,0.0008170943,0.0005090165,0.00055782293,0.0015196335],"category_scores_gemma":[0.0124294255,0.00021873016,0.0007968955,0.0005867078,0.0005770387,0.0009915257,0.0013523586,0.0009705177,0.0003795208],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0016549837,0.012390552,0.902728,0.00034837463,0.0001464438,0.0005057748,0.009389472,0.0004461866,0.0018986928,0.00016289426,0.0009877343,0.069340855],"study_design_scores_gemma":[0.00069808646,0.03904787,0.9445413,0.0001538304,0.00017528674,0.0008312989,0.0086602345,0.0016229751,0.0012121007,0.00026682118,0.0027356576,0.000054531505],"about_ca_topic_score_codex":0.00254081,"about_ca_topic_score_gemma":0.005410001,"teacher_disagreement_score":0.012436259,"about_ca_system_score_codex":0.00072451326,"about_ca_system_score_gemma":0.0019648587,"threshold_uncertainty_score":0.06576997},"labels":[],"label_agreement":null},{"id":"W2892180233","doi":"10.1186/s13023-018-0905-4","title":"Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":94,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Shriners Hospitals for Children - Canada","funders":"","keywords":"Osteogenesis imperfecta; Rehabilitation; Medicine; Family medicine; Physical therapy; Pathology","score_opus":0.005473710081200091,"score_gpt":0.2756317748557102,"score_spread":0.27015806477451015,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2892180233","genre_codex":"commentary","genre_gemma":"editorial","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"editorial","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.020102687,0.042526826,0.034019854,0.7784812,0.079053834,0.009216873,0.0043458655,0.00023287386,0.032019984],"genre_scores_gemma":[0.27009383,0.08462179,0.2740482,0.26887867,0.030974837,0.023700522,0.018712234,0.00026631285,0.028703684],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9360076,0.028219119,0.020626176,0.002258979,0.009741096,0.0031470454],"domain_scores_gemma":[0.84988993,0.066200614,0.00921437,0.0027413894,0.06144059,0.01051314],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.07965373,0.001093807,0.0024507619,0.003434226,0.0032940456,0.002495061,0.004632435,0.0107097505,0.0041673877],"category_scores_gemma":[0.09599538,0.0009928657,0.0044130366,0.0021373376,0.00214241,0.0023197907,0.0055517727,0.009796968,0.0016457621],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0007331195,0.00035947622,0.0062963446,0.022843253,0.0006046264,0.0040361355,0.010705879,0.002279071,0.0054845554,0.017371872,0.6952276,0.23405804],"study_design_scores_gemma":[0.0004727678,0.00047525772,0.010160363,0.039874073,0.0005903019,0.0043023513,0.011221738,0.0015439686,0.0018405471,0.019322993,0.9099297,0.00026596134],"about_ca_topic_score_codex":0.0034561504,"about_ca_topic_score_gemma":0.0032369723,"teacher_disagreement_score":0.07965373,"about_ca_system_score_codex":0.004937416,"about_ca_system_score_gemma":0.028016057,"threshold_uncertainty_score":0.42125422},"labels":[],"label_agreement":null},{"id":"W2892424788","doi":"10.1186/s13023-018-0935-y","title":"Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Shriners Hospitals for Children - Canada; McGill University Health Centre; McGill University","funders":"National Center for Advancing Translational Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Dental and Craniofacial Research; Rare Diseases Clinical Research Network; National Institutes of Health; Osteogenesis Imperfecta Foundation","keywords":"Osteogenesis imperfecta; Medicine; Context (archaeology); Craniofacial; Quality of life (healthcare); Cross-sectional study; Pediatrics; Oral health; Longitudinal study; Dentistry; Psychiatry; Pathology","score_opus":0.02190769050688178,"score_gpt":0.34043145241820494,"score_spread":0.31852376191132314,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2892424788","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9991543,0.0001771963,0.000030371108,0.000019628727,0.0000038322205,0.000022346314,0.00039751225,0.0000011311893,0.00019372653],"genre_scores_gemma":[0.99894017,0.00016260201,0.00012141346,0.000038940092,0.000007890483,0.00004136148,0.0006076692,0.000001277967,0.00007874821],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9992331,0.00018319246,0.00011879885,0.00014499013,0.00022236665,0.00009752892],"domain_scores_gemma":[0.99793005,0.00033348403,0.00094423373,0.00011335603,0.00031753606,0.00036143608],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0014086101,0.00031020006,0.0007385876,0.0009000564,0.0005531821,0.0007470104,0.00043791597,0.00064473617,0.000963483],"category_scores_gemma":[0.0023821522,0.00049712014,0.00067523506,0.0012641131,0.00033749855,0.0006276934,0.0006685714,0.0010665567,0.00023534619],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000022439606,0.000049491468,0.99939215,0.000008874719,0.000034698114,0.00003134582,0.00012394522,0.000009585478,0.000045730198,0.00000539799,0.000031310145,0.00024505207],"study_design_scores_gemma":[0.0000038920143,0.00010692716,0.9992368,0.0000057080456,0.000021027736,0.00014353085,0.0003291918,0.00003406118,0.000013187074,0.0000041497974,0.00009935125,0.0000021066003],"about_ca_topic_score_codex":0.0063773156,"about_ca_topic_score_gemma":0.008881444,"teacher_disagreement_score":0.0063773156,"about_ca_system_score_codex":0.0004359305,"about_ca_system_score_gemma":0.0003698406,"threshold_uncertainty_score":0.012680352},"labels":[],"label_agreement":null},{"id":"W2894514786","doi":"10.1186/s13023-018-0913-4","title":"Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":55,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Dystonia Coalition; UCB Pharma; European Academy of Neurology; Mallinckrodt Pharmaceuticals; Actelion Pharmaceuticals; Teva Pharmaceutical Industries; Sucampo Pharmaceuticals; Dystonia Medical Research Foundation","keywords":"Niemann–Pick disease, type C; Medicine; Pediatrics; Dystonia; Cohort; Age of onset; Ataxia; Disease; Newborn screening; Internal medicine; Psychiatry","score_opus":0.019869718997561323,"score_gpt":0.3536046502687375,"score_spread":0.33373493127117615,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2894514786","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99768364,0.0013491571,0.000051335533,0.00006367636,0.000004588801,0.000008947027,0.000334781,0.0000047101325,0.000499053],"genre_scores_gemma":[0.9987281,0.00049671694,0.000084553925,0.00004866274,0.000011882915,0.000008817909,0.0004792742,0.0000018172781,0.00014010999],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9995499,0.00009618885,0.000053904336,0.000121146615,0.00008429166,0.000094634466],"domain_scores_gemma":[0.99907565,0.00012440314,0.0005178859,0.000025980795,0.00012285405,0.00013316401],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00057662575,0.00030887974,0.00042717738,0.0007315403,0.0004830769,0.0006512806,0.00020225611,0.00045890678,0.00097183586],"category_scores_gemma":[0.0011255977,0.000119594006,0.0004019206,0.00083927193,0.00025442042,0.0003360267,0.0002931486,0.00024157137,0.00016382078],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00045574963,0.000084098676,0.9870483,0.000039623053,0.00008165712,0.0012313188,0.00021413708,0.00012370231,0.00060355203,0.00004035764,0.00030969834,0.009767771],"study_design_scores_gemma":[0.000013869487,0.00017780713,0.99742305,0.00001948308,0.000026664851,0.001562627,0.00013372346,0.00007473002,0.000048227987,0.00001427023,0.00049906044,0.000006374657],"about_ca_topic_score_codex":0.03481833,"about_ca_topic_score_gemma":0.0305166,"teacher_disagreement_score":0.03481833,"about_ca_system_score_codex":0.0015409683,"about_ca_system_score_gemma":0.0010006889,"threshold_uncertainty_score":0.06923133},"labels":[],"label_agreement":null},{"id":"W2901969356","doi":"10.1186/s13023-018-0945-9","title":"Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia – high rate of HPV positivity","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":9,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Sigrid Juséliuksen Säätiö; Karolinska Institutet; Institute of Genetics; Novo Nordisk Fonden; Academy of Finland; Lastentautien Tutkimussäätiö; Folkhälsanin Tutkimussäätiö; Samfundet Folkhälsan; Helsingin Yliopisto","keywords":"Medicine; Breast development; Gynecology; Hypoplasia; Delayed puberty; Menarche; Obstetrics; Physiology; Hormone; Internal medicine","score_opus":0.008118900660579617,"score_gpt":0.24517018941141672,"score_spread":0.23705128875083709,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2901969356","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9995066,0.00014702864,0.00005589377,0.00001289176,0.000002229442,0.0000061988567,0.000066074615,0.0000032362057,0.00019980436],"genre_scores_gemma":[0.9996125,0.00008904516,0.00013254613,0.000015596339,0.0000051118654,0.0000034307238,0.00007753883,0.000001016088,0.00006328764],"study_design_codex":"observational","study_design_gemma":"case_report","domain_scores_codex":[0.9998103,0.00004554394,0.00002564959,0.000043883516,0.000029372814,0.00004539434],"domain_scores_gemma":[0.9996352,0.00009277049,0.00011134583,0.000025358318,0.000052061074,0.00008331166],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00022547696,0.00027128184,0.0001691612,0.001107456,0.0003599955,0.00021171875,0.00016741951,0.00032867922,0.0010706562],"category_scores_gemma":[0.001298413,0.00021716641,0.00015296672,0.00036665963,0.00025104792,0.00022012542,0.00035904525,0.00017145232,0.00020623716],"study_design_candidate":"case_report","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00005752394,0.000029726056,0.9904597,0.000011168756,0.0000074030922,0.005191755,0.0001503506,0.000031005806,0.0020495767,0.000009292689,0.000049198985,0.001953303],"study_design_scores_gemma":[0.000008206255,0.00045818405,0.9635832,0.00000895426,0.000017261302,0.034015037,0.0004675806,0.00014499083,0.0009385233,0.00001961433,0.00033315102,0.000005314774],"about_ca_topic_score_codex":0.00142056,"about_ca_topic_score_gemma":0.0015160418,"teacher_disagreement_score":0.00142056,"about_ca_system_score_codex":0.00020685297,"about_ca_system_score_gemma":0.00020298135,"threshold_uncertainty_score":0.0035817027},"labels":[],"label_agreement":null},{"id":"W2902294772","doi":"10.1186/s13023-018-0955-7","title":"A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Wilfrid Laurier University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"FP7 Health; Horizon 2020; National Institute of Neurological Disorders and Stroke; Medical Research Council; Universiteit Leiden; National Institutes of Health; European Commission; Leids Universitair Medisch Centrum; Universitair Medisch Centrum Groningen","keywords":"Computer science; Expert system; Coding (social sciences); Disease; Medicine; Bioinformatics; Data science; Artificial intelligence; Biology; Pathology","score_opus":0.042539114723220854,"score_gpt":0.3123622424009337,"score_spread":0.2698231276777128,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2902294772","genre_codex":"methods","genre_gemma":"methods","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"methods","genre_consensus":"methods","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.010659596,0.002848552,0.9049047,0.050153468,0.0054620504,0.0022389267,0.007812238,0.0032045646,0.012715844],"genre_scores_gemma":[0.013221007,0.0009126136,0.9743026,0.0020609326,0.00043437848,0.0007687095,0.006553208,0.0005061925,0.0012403361],"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"not_applicable","domain_scores_codex":[0.96629035,0.015242142,0.008463403,0.003114406,0.006032064,0.0008576019],"domain_scores_gemma":[0.86765593,0.039196525,0.012929168,0.029040664,0.045617543,0.005560151],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.06996114,0.0011097176,0.0015695909,0.015783723,0.004506758,0.012598353,0.00496201,0.0032837149,0.0043394226],"category_scores_gemma":[0.12964065,0.000968864,0.0025141898,0.01700097,0.007191946,0.015993929,0.008097746,0.008053081,0.0035799302],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00014114789,0.00017307943,0.015732603,0.0015046805,0.00010567468,0.0011090967,0.011626019,0.004506409,0.0063323257,0.503194,0.15200652,0.30356854],"study_design_scores_gemma":[0.000056835557,0.000111763715,0.006956732,0.0030649463,0.00013751366,0.0010685708,0.004342765,0.008224408,0.0027677312,0.18782374,0.7852492,0.00019574795],"about_ca_topic_score_codex":0.01022255,"about_ca_topic_score_gemma":0.0088751,"teacher_disagreement_score":0.06996114,"about_ca_system_score_codex":0.0072226427,"about_ca_system_score_gemma":0.02482301,"threshold_uncertainty_score":0.36999428},"labels":[],"label_agreement":null},{"id":"W2903149374","doi":"10.1186/s13023-018-0952-x","title":"Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis","year":2018,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation; University of Toronto","funders":"Epilepsy Research Program of the Ontario Brain Institute; Ontario Brain Institute","keywords":"Incidence (geometry); Epidemiology; Medicine; Meta-analysis; Demography; Population; Pediatrics; Internal medicine; Environmental health","score_opus":0.1556196757338787,"score_gpt":0.41805232328832304,"score_spread":0.26243264755444434,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2903149374","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.009630088,0.9881842,0.0004799033,0.0002252403,0.00009453583,0.00011476808,0.0009781002,0.000017674838,0.00027545114],"genre_scores_gemma":[0.24935023,0.7458625,0.0016083048,0.00067381054,0.00025498893,0.0005312368,0.0014483215,0.00003006394,0.00024060732],"study_design_codex":"meta_analysis","study_design_gemma":"meta_analysis","domain_scores_codex":[0.99224406,0.0031719527,0.0025068242,0.0010774522,0.0006942888,0.0003054406],"domain_scores_gemma":[0.9796978,0.014451189,0.0035432084,0.0006741494,0.0014235274,0.0002099885],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01086754,0.0016834683,0.010894053,0.0065693515,0.00050259556,0.0024120617,0.0013869744,0.0013724361,0.002823645],"category_scores_gemma":[0.025576252,0.0009547781,0.024922147,0.01030051,0.0006174216,0.0012035175,0.0013543449,0.0010735036,0.000225869],"study_design_candidate":"meta_analysis","study_design_consensus":"meta_analysis","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0015495552,0.000019542636,0.028444706,0.3743157,0.5777728,0.00025451716,0.0001854244,0.00077471376,0.0003129671,0.00021363406,0.0009968961,0.015159525],"study_design_scores_gemma":[0.00031047335,0.00015610225,0.024327891,0.035761345,0.93629086,0.0002177595,0.000115204275,0.00020130035,0.00012240367,0.00018800152,0.0022834924,0.000025190357],"about_ca_topic_score_codex":0.0069938204,"about_ca_topic_score_gemma":0.014375112,"teacher_disagreement_score":0.010894053,"about_ca_system_score_codex":0.0013730661,"about_ca_system_score_gemma":0.0028558387,"threshold_uncertainty_score":0.05747372},"labels":[],"label_agreement":null},{"id":"W2904200899","doi":"10.1186/s13023-018-0968-2","title":"Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases","year":2018,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":55,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Alberta","funders":"National Key Research and Development Program of China; Peking Union Medical College Hospital","keywords":"Cystic fibrosis; Medicine; Genetic testing; Chinese population; Newborn screening; Compound heterozygosity; Mutation; Disease; Human genetics; Genetics; Internal medicine; Pediatrics; Gene; Genotype; Biology","score_opus":0.033806965502380784,"score_gpt":0.3864657071892362,"score_spread":0.3526587416868554,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2904200899","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.003980516,0.99461865,0.00010507488,0.00017370707,0.00004704468,0.000013753545,0.00018628068,0.000007425222,0.0008675167],"genre_scores_gemma":[0.017119575,0.98187375,0.00025364506,0.00018014453,0.00010074785,0.00001907512,0.00023195962,0.0000021201995,0.00021900362],"study_design_codex":"design_other","study_design_gemma":"systematic_review","domain_scores_codex":[0.99974805,0.000034304056,0.000097880504,0.000043947035,0.00005718283,0.000018607194],"domain_scores_gemma":[0.99952364,0.00024198032,0.00011618506,0.000014656448,0.000079530284,0.000024029363],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00041432877,0.00042098152,0.00087253464,0.004747619,0.00031083712,0.00043165206,0.00044598343,0.000374178,0.0019159145],"category_scores_gemma":[0.0010716476,0.0001719792,0.0006914391,0.004351161,0.0002924613,0.0005549338,0.00038578158,0.00028754162,0.00029875632],"study_design_candidate":"systematic_review","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00018661792,0.00006653883,0.031642865,0.05093518,0.00068387884,0.007937512,0.0007476947,0.00030345784,0.002842264,0.0010353475,0.02012082,0.88349783],"study_design_scores_gemma":[0.000096505726,0.0003466123,0.18011831,0.061265286,0.006934904,0.1914077,0.0016307115,0.0003454642,0.0023974844,0.0020399084,0.5532364,0.00018073835],"about_ca_topic_score_codex":0.0025861065,"about_ca_topic_score_gemma":0.0037663241,"teacher_disagreement_score":0.004747619,"about_ca_system_score_codex":0.00035828937,"about_ca_system_score_gemma":0.0010960668,"threshold_uncertainty_score":0.006409347},"labels":[],"label_agreement":null},{"id":"W2910418368","doi":"10.1186/s13023-018-0950-z","title":"Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Hospital for Sick Children; University Hospitals Birmingham NHS Foundation Trust; Cambridge University Hospitals; Nottingham University Hospitals NHS Trust; University of Nottingham; University of Cambridge","keywords":"Medicine; Facilitator; Statement (logic); Family medicine; Interpretation (philosophy); Delphi method; Phenylketonurias; Pediatrics; Psychology; Phenylalanine; Social psychology; Political science","score_opus":0.0110168780379052,"score_gpt":0.2746663870868771,"score_spread":0.2636495090489719,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2910418368","genre_codex":"methods","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.29318392,0.006124162,0.32142866,0.1868002,0.010592524,0.07143049,0.003261126,0.0012198145,0.10595914],"genre_scores_gemma":[0.41771892,0.0032525677,0.521785,0.011088828,0.00055346667,0.03469827,0.0031061196,0.00023191291,0.0075648855],"study_design_codex":"design_other","study_design_gemma":"qualitative","domain_scores_codex":[0.7033159,0.2074958,0.047319997,0.004804957,0.030516824,0.0065465025],"domain_scores_gemma":[0.6325474,0.14437181,0.026329752,0.012138648,0.17305617,0.011556343],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.3319238,0.001040545,0.0014222175,0.0048941807,0.0046556843,0.0037468155,0.005369211,0.0054076817,0.003275477],"category_scores_gemma":[0.3049974,0.0012468802,0.0025568232,0.0029841254,0.0041612796,0.005218492,0.01108427,0.0076933894,0.0015477977],"study_design_candidate":"qualitative","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0012864219,0.0013617787,0.022986906,0.013582989,0.00033731954,0.002919501,0.28365117,0.006934836,0.010385623,0.03152283,0.12847167,0.49655902],"study_design_scores_gemma":[0.00083526265,0.0021037569,0.040198825,0.0359729,0.0004285543,0.0032706317,0.22913334,0.020981813,0.014545279,0.066438,0.58514994,0.0009417847],"about_ca_topic_score_codex":0.0053093135,"about_ca_topic_score_gemma":0.0066883606,"teacher_disagreement_score":0.3319238,"about_ca_system_score_codex":0.017202826,"about_ca_system_score_gemma":0.06370633,"threshold_uncertainty_score":0.8238569},"labels":[],"label_agreement":null},{"id":"W2910420119","doi":"10.1186/s13023-019-0998-4","title":"SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":140,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Biogen","keywords":"SMA*; Spinal muscular atrophy; Medicine; Quality of life (healthcare); Clinical trial; Neuromuscular disease; Physical medicine and rehabilitation; Physical therapy; Disease; Internal medicine; Computer science; Nursing","score_opus":0.03251583030281468,"score_gpt":0.31355289243648066,"score_spread":0.28103706213366597,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2910420119","genre_codex":"dataset","genre_gemma":"software","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"software","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.24151228,0.0030980553,0.027568508,0.006180709,0.00054304645,0.0048796735,0.6868848,0.013390141,0.015942732],"genre_scores_gemma":[0.43097723,0.0017810169,0.066495255,0.0038954685,0.0007631628,0.01292423,0.47759727,0.0011236955,0.004442717],"study_design_codex":"observational","study_design_gemma":"not_applicable","domain_scores_codex":[0.9931306,0.0032271543,0.0015853848,0.0011163915,0.0006905489,0.000249905],"domain_scores_gemma":[0.9607272,0.015670408,0.009549522,0.0050104745,0.00508948,0.003952891],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.007531628,0.0008715729,0.0011629587,0.0035495295,0.00053022185,0.0017050682,0.0012316575,0.0010179874,0.0124594765],"category_scores_gemma":[0.037281193,0.00045523586,0.0011510404,0.002672879,0.0003425773,0.0025112175,0.0035468235,0.001174834,0.0058357846],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0076227183,0.0011384694,0.50573397,0.0022684427,0.0016090946,0.00067551027,0.0015739702,0.0032902898,0.0026723512,0.003077904,0.25034422,0.21999317],"study_design_scores_gemma":[0.0030547108,0.002636729,0.7431852,0.0019903437,0.000722398,0.0012214222,0.0014505545,0.02001161,0.004705743,0.012756549,0.2077718,0.0004928492],"about_ca_topic_score_codex":0.0024565998,"about_ca_topic_score_gemma":0.0038593323,"teacher_disagreement_score":0.0124594765,"about_ca_system_score_codex":0.0006725461,"about_ca_system_score_gemma":0.0019778805,"threshold_uncertainty_score":0.04168111},"labels":[],"label_agreement":null},{"id":"W2910655390","doi":"10.1186/s13023-018-0978-0","title":"Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"McMaster Children's Hospital; Izaak Walton Killam Health Centre; SickKids Foundation; Children's Hospital of Western Ontario; BC Children's Hospital; University of Ottawa; Children's Hospital of Eastern Ontario; University of British Columbia","funders":"Canadian Institutes of Health Research; University of British Columbia","keywords":"Medicine; Disease; Population; Phenylalanine hydroxylase; Dietary management; Pediatrics; Newborn screening; Intensive care medicine; Phenylalanine; Internal medicine; Environmental health","score_opus":0.00966535689580685,"score_gpt":0.24394331968220773,"score_spread":0.23427796278640087,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2910655390","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9950435,0.0006599438,0.000041446718,0.0010695184,0.000010606569,0.000041094496,0.0008066287,0.0000061829587,0.0023209613],"genre_scores_gemma":[0.997414,0.0011404252,0.000260748,0.0005211251,0.0000064036144,0.00001986323,0.00033549534,0.0000026233856,0.00029923057],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9987066,0.00013612997,0.0001264804,0.00010954583,0.00064410066,0.0002772325],"domain_scores_gemma":[0.99551755,0.00046115255,0.0014803015,0.000062354586,0.00143318,0.0010453654],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00088092143,0.00013564451,0.00023076158,0.00088783796,0.0018082287,0.0007816428,0.0006160828,0.00038130302,0.0011434664],"category_scores_gemma":[0.0039756107,0.00021022378,0.0002393247,0.0025588584,0.0006648625,0.00032079915,0.00064842025,0.00055174535,0.000118172575],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000022902082,0.00003667803,0.9908398,0.000060536524,0.0000116411275,0.00012930777,0.0022641341,0.000026190115,0.000111967274,0.00003045966,0.0009171747,0.005549182],"study_design_scores_gemma":[0.0000040590694,0.000047065132,0.99170214,0.00007188433,0.0000086131595,0.00018942448,0.006127113,0.00012820402,0.000043293854,0.0000070493584,0.0016635488,0.0000076040733],"about_ca_topic_score_codex":0.9339724,"about_ca_topic_score_gemma":0.9489261,"teacher_disagreement_score":0.06602758,"about_ca_system_score_codex":0.009672225,"about_ca_system_score_gemma":0.01622735,"threshold_uncertainty_score":0.13283283},"labels":[],"label_agreement":null},{"id":"W2911446348","doi":"10.1186/s13023-018-0980-6","title":"An ontological foundation for ocular phenotypes and rare eye diseases","year":2019,"lang":"en","type":"letter","venue":"Orphanet Journal of Rare Diseases","topic":"Biomedical Text Mining and Ontologies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"National Institutes of Health; Všeobecná Fakultní Nemocnice v Praze; Moorfields Eye Hospital NHS Foundation Trust; Uniwersytet Medyczny w Lublinie; Université de Lausanne; Hospital for Sick Children; Universiteit Gent; Newcastle University; Universiteit van Amsterdam; Institut National de la Santé et de la Recherche Médicale; Assistance publique-Hôpitaux de Paris; Leids Universitair Medisch Centrum; Universiteit Leiden; National Institute for Health and Care Research; Universitair Ziekenhuis Gent; Université de Montpellier; Ospedale Pediatrico Bambino Gesù; Hadassah Medical Organization; Universität Basel; European Commission; Eberhard Karls Universität Tübingen; Johns Hopkins University; Rigshospitalet; Cleveland Clinic; Johannes Gutenberg-Universität Mainz; Universidade de Coimbra; Univerzita Karlova v Praze","keywords":"Foundation (evidence); Phenotype; Human genetics; Genetics; Medicine; Optometry; Biology; Political science; Law; Gene","score_opus":0.014809440085015795,"score_gpt":0.28429999119922117,"score_spread":0.2694905511142054,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2911446348","genre_codex":"methods","genre_gemma":"methods","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"methods","genre_consensus":"methods","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.033114407,0.0036566374,0.85183156,0.013668788,0.0008592049,0.0012727336,0.015863152,0.0014697904,0.07826372],"genre_scores_gemma":[0.24774222,0.0037920491,0.7089929,0.0024177562,0.0004886061,0.0014257873,0.027591394,0.00028952886,0.007259798],"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.99582785,0.001475657,0.0007588034,0.0005814251,0.0010643172,0.00029185688],"domain_scores_gemma":[0.9918007,0.0040415223,0.0010007159,0.0010819564,0.0016016332,0.0004733809],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0060063535,0.00056337455,0.0005074063,0.006982137,0.002665045,0.004345325,0.0013009532,0.0015238181,0.0031639675],"category_scores_gemma":[0.011696063,0.00043585425,0.0018290821,0.0055565448,0.0026430779,0.006380489,0.004631509,0.00218979,0.0008751024],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0000731597,0.000108209264,0.007190313,0.00072439853,0.00010327242,0.001184141,0.0062796124,0.0040006745,0.0030508963,0.8700003,0.018078294,0.08920676],"study_design_scores_gemma":[0.000046780984,0.00004310159,0.010628642,0.0015045678,0.00022023651,0.0017651145,0.005020031,0.021615831,0.0017059966,0.5165892,0.44077125,0.00008925655],"about_ca_topic_score_codex":0.017487407,"about_ca_topic_score_gemma":0.017460333,"teacher_disagreement_score":0.017487407,"about_ca_system_score_codex":0.0029940086,"about_ca_system_score_gemma":0.0077673243,"threshold_uncertainty_score":0.034771264},"labels":[],"label_agreement":null},{"id":"W2918082148","doi":"10.1186/s13023-018-0990-4","title":"Estimating the clinical cost of drug development for orphan versus non-orphan drugs","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":125,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"St. Michael's Hospital; Toronto Public Health; University of Calgary; University of Toronto","funders":"","keywords":"Orphan drug; Drug; Drug development; Medicine; Pharmacology; Bioinformatics","score_opus":0.20503038156645,"score_gpt":0.43366849616006675,"score_spread":0.22863811459361674,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2918082148","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.8755912,0.014703175,0.07418562,0.008947145,0.00023840946,0.00087745895,0.010453531,0.00009086741,0.014912578],"genre_scores_gemma":[0.9836331,0.0019399383,0.011336137,0.00025428212,0.0000658406,0.00015123052,0.0020074674,0.00001548968,0.00059642264],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99226284,0.0054723895,0.00060385943,0.0004815416,0.0007886319,0.0003907693],"domain_scores_gemma":[0.92079437,0.069052376,0.00675845,0.0010929052,0.001674679,0.00062720623],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.013873079,0.0006335513,0.0008815683,0.002684535,0.00022778034,0.0022149582,0.00082996674,0.00073326466,0.0037989665],"category_scores_gemma":[0.06880099,0.00035487997,0.0016572343,0.0032889412,0.0006300981,0.0021067143,0.0009569332,0.0017807548,0.00021940294],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0017159685,0.0002883844,0.42549774,0.0011697884,0.0037502889,0.00034142402,0.00023420926,0.41241094,0.00032547204,0.032053366,0.006806201,0.115406275],"study_design_scores_gemma":[0.000501653,0.0009461996,0.33135357,0.0016903372,0.002796386,0.0010128322,0.00097346003,0.5694838,0.0017543149,0.0716386,0.017635476,0.00021346263],"about_ca_topic_score_codex":0.013917338,"about_ca_topic_score_gemma":0.010453128,"teacher_disagreement_score":0.013917338,"about_ca_system_score_codex":0.0050696796,"about_ca_system_score_gemma":0.002609187,"threshold_uncertainty_score":0.07336879},"labels":[],"label_agreement":null},{"id":"W2922227428","doi":"10.1186/s13023-018-0993-1","title":"Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of Ottawa; Newborn Screening Ontario; Children's Hospital of Eastern Ontario; Ottawa Hospital","funders":"International Centre for Diarrhoeal Disease Research, Bangladesh; Bill and Melinda Gates Foundation","keywords":"Medicine; Cord blood; Newborn screening; Cohort; Umbilical cord; Pediatrics; Cohort study; Heel; Obstetrics; Cord; Prospective cohort study; Dried blood spot; Surgery; Internal medicine; Immunology","score_opus":0.004342241176757935,"score_gpt":0.2421238186442853,"score_spread":0.23778157746752737,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2922227428","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9980957,0.00017581321,0.00008383568,0.00018717289,0.0000048531037,0.000030742198,0.0007029544,0.0000022082831,0.0007166498],"genre_scores_gemma":[0.99910396,0.00022932634,0.00014862814,0.00006117122,0.0000028470909,0.000016880227,0.0002778535,0.0000019922677,0.00015720777],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99925965,0.00017699067,0.00007680198,0.00014305188,0.0001606617,0.00018275653],"domain_scores_gemma":[0.9985649,0.00021024632,0.00046940646,0.00013224441,0.000283113,0.00034015157],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0010281609,0.00027330758,0.00025156594,0.0008935844,0.0010100497,0.00091445993,0.0006518277,0.000322677,0.0017904277],"category_scores_gemma":[0.0030831427,0.0002342716,0.00028947642,0.0013465105,0.0005157251,0.0003442683,0.00071363855,0.0005035868,0.00018239947],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000012971377,0.000010853423,0.99819857,0.000011401919,0.000010854977,0.00018952054,0.0005419466,0.00001113258,0.00013892287,0.00003249254,0.00009550598,0.0007458357],"study_design_scores_gemma":[0.0000013239012,0.000022912132,0.9975775,0.000022498005,0.000009515894,0.00021547423,0.0018559316,0.000050560782,0.000025313937,0.000017622817,0.000197587,0.0000037715154],"about_ca_topic_score_codex":0.41929024,"about_ca_topic_score_gemma":0.5081945,"teacher_disagreement_score":0.41929024,"about_ca_system_score_codex":0.0020378907,"about_ca_system_score_gemma":0.0027631144,"threshold_uncertainty_score":0.8336994},"labels":[],"label_agreement":null},{"id":"W2938892019","doi":"10.1186/s13023-018-0975-3","title":"Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy","year":2019,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Duchenne muscular dystrophy; Human genetics; Muscular dystrophy; Medicine; Biology; Genetics; Internal medicine; Gene","score_opus":0.07228703016615831,"score_gpt":0.330303051713391,"score_spread":0.2580160215472327,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2938892019","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00005492446,0.9983292,0.00006125835,0.0010013942,0.00019296753,0.0000011838537,0.000056855195,0.0000019074942,0.0003003515],"genre_scores_gemma":[0.00067110336,0.99810493,0.000086726846,0.0004856663,0.0005095001,0.000003168759,0.000044064887,0.0000011008351,0.000093697025],"study_design_codex":"design_other","study_design_gemma":"systematic_review","domain_scores_codex":[0.9990989,0.00027091114,0.00016894146,0.00015670925,0.00024546354,0.000059132686],"domain_scores_gemma":[0.991863,0.006602718,0.0006331081,0.00010260157,0.0006501077,0.00014850909],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0032185165,0.00086327177,0.0029342806,0.0027036925,0.0002494434,0.0022607064,0.0013250553,0.0020679985,0.006816778],"category_scores_gemma":[0.010204521,0.00029302257,0.0010673068,0.0036307543,0.000918194,0.0020592737,0.0011507142,0.0022505405,0.0009945773],"study_design_candidate":"systematic_review","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00023801824,0.000037372763,0.00056946813,0.050050866,0.00062575407,0.00024321578,0.000058985668,0.0007678276,0.00018674036,0.013740087,0.06734997,0.86613166],"study_design_scores_gemma":[0.00008129972,0.000095541945,0.0039163004,0.062133834,0.0011362719,0.0015080516,0.00018577596,0.00026905688,0.00015730645,0.014042337,0.91640455,0.00006972089],"about_ca_topic_score_codex":0.0026953532,"about_ca_topic_score_gemma":0.0040319283,"teacher_disagreement_score":0.006816778,"about_ca_system_score_codex":0.0014175017,"about_ca_system_score_gemma":0.0035347573,"threshold_uncertainty_score":0.02280438},"labels":[],"label_agreement":null},{"id":"W2940064258","doi":"10.1186/s13023-019-1001-0","title":"Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of British Columbia; Alberta Children's Hospital; McGill University; London Health Sciences Centre; McMaster University; Université de Montréal; Western University; Hospital for Sick Children; SickKids Foundation; Montreal Children's Hospital; Memorial University of Newfoundland; University of Toronto; Hamilton Health Sciences; Ottawa Hospital; Centre Hospitalier Universitaire Sainte-Justine; University of Ottawa; Dalhousie University; Newborn Screening Ontario; McMaster University Medical Centre; Children's Hospital of Eastern Ontario; University of Manitoba; Institute for Clinical Evaluative Sciences; Children's & Women's Health Centre of British Columbia; Manitoba Health","funders":"Canadian Institutes of Health Research; Centers for Disease Control and Prevention; Ontario Ministry of Health and Long-Term Care","keywords":"Medicine; Cohort; Pediatrics; Newborn screening; Rate ratio; Population; Incidence (geometry); Emergency department; Cohort study; Demography; Environmental health; Internal medicine; Psychiatry","score_opus":0.0052890271301038955,"score_gpt":0.21761796612038556,"score_spread":0.21232893899028166,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2940064258","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9944689,0.0003883264,0.00006044547,0.0001088363,0.0000057464636,0.00004142705,0.004030934,0.0000061030296,0.0008892351],"genre_scores_gemma":[0.99750984,0.00043603432,0.00010153481,0.000052775125,0.0000033830672,0.00002282594,0.0013969741,0.0000029353043,0.00047369098],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9993425,0.00003509233,0.000042886917,0.000103530365,0.00023585468,0.00024008301],"domain_scores_gemma":[0.99894696,0.0000533045,0.00034472128,0.000038122704,0.00033130185,0.00028560197],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004058598,0.0003062393,0.00040527893,0.0011708512,0.0017152719,0.00089619274,0.0007635808,0.0003102243,0.0011044514],"category_scores_gemma":[0.0010274726,0.00036005367,0.00060872134,0.003050083,0.0005161306,0.00036956655,0.00063256995,0.0004848248,0.00014298869],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000019734338,0.000011341688,0.99859005,0.000013088073,0.00001803106,0.00007921721,0.00032768334,0.000021185466,0.000078114186,0.00001559335,0.00024161946,0.00058429746],"study_design_scores_gemma":[0.0000025371855,0.000013481684,0.9991836,0.000012370874,0.000009733059,0.000053483964,0.0004320304,0.00006118572,0.000016324977,0.0000036905622,0.00020867732,0.0000029087837],"about_ca_topic_score_codex":0.984426,"about_ca_topic_score_gemma":0.9902108,"teacher_disagreement_score":0.015573978,"about_ca_system_score_codex":0.015372557,"about_ca_system_score_gemma":0.012549782,"threshold_uncertainty_score":0.111536264},"labels":[],"label_agreement":null},{"id":"W2946990928","doi":"10.1186/s13023-019-1079-4","title":"Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Fundação Instituto de Pesquisas Econômicas; Universidade Federal do Rio Grande do Sul; Hospital de Clínicas de Porto Alegre","keywords":"Disease; Human genetics; Medicine; Parkinson's disease; Motor symptoms; Physical medicine and rehabilitation; Pediatrics; Neuroscience; Psychology; Internal medicine; Genetics; Biology","score_opus":0.011933775328236853,"score_gpt":0.27785558935785076,"score_spread":0.2659218140296139,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2946990928","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9995104,0.00014535009,0.000024137613,0.000009274391,0.000001611895,0.000007681052,0.00010169925,0.0000016231234,0.00019813793],"genre_scores_gemma":[0.99962556,0.00007368849,0.000065001346,0.000013635213,0.0000025150262,0.00000638486,0.0001492234,5.4765434e-7,0.000063416555],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9997949,0.00004029255,0.000042083153,0.000053699197,0.00003924448,0.000029784987],"domain_scores_gemma":[0.999371,0.00007702518,0.00033740798,0.000026169984,0.000085622836,0.00010277367],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00039305797,0.000233766,0.00036150045,0.00067221734,0.00031503598,0.00037628654,0.00020808438,0.00036926035,0.00089055585],"category_scores_gemma":[0.0013053512,0.00015734891,0.000273484,0.00051179156,0.00017401141,0.00022741905,0.00022210994,0.00020037843,0.00016186004],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000044345765,0.00001647517,0.9990711,0.0000069927846,0.0000094793095,0.00008173035,0.000058913094,0.000006825112,0.00018654957,0.0000026787288,0.00001688093,0.0004979411],"study_design_scores_gemma":[0.0000041441012,0.00013294142,0.9989421,0.000004024864,0.0000131618035,0.0006601444,0.0000992496,0.000034058343,0.000036559,0.0000047584003,0.00006742015,0.0000015421576],"about_ca_topic_score_codex":0.0032053753,"about_ca_topic_score_gemma":0.005008699,"teacher_disagreement_score":0.0032053753,"about_ca_system_score_codex":0.00024509264,"about_ca_system_score_gemma":0.00018074781,"threshold_uncertainty_score":0.006373465},"labels":[],"label_agreement":null},{"id":"W2947019202","doi":"10.1186/s13023-019-1078-5","title":"Comparing access to orphan medicinal products in Europe","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":87,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Health Technology Assessment international; Shire","keywords":"Reimbursement; Orphan drug; Authorization; Marketing authorization; European union; Business; Access to medicines; Medicine; Public health; Economic growth; Health care; International trade; Economics","score_opus":0.2640322262541501,"score_gpt":0.40820726186261375,"score_spread":0.14417503560846362,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2947019202","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.96284026,0.017670432,0.00070324854,0.00077010493,0.00008083499,0.000048318878,0.005777269,0.000022528859,0.012087003],"genre_scores_gemma":[0.9907775,0.0034034855,0.0005246706,0.00034402517,0.000078444464,0.000034454963,0.0042001307,0.0000158764,0.00062153913],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9946069,0.0017024513,0.0010086584,0.000964698,0.0011784919,0.0005387461],"domain_scores_gemma":[0.98233634,0.0059908954,0.008518283,0.0005392067,0.001543494,0.0010717554],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005177018,0.00023064873,0.0005894942,0.0038963659,0.0002045818,0.0025921443,0.00037307883,0.0006172194,0.0037598389],"category_scores_gemma":[0.014045892,0.00014145895,0.0011255249,0.0049766353,0.0006188496,0.0015094545,0.0015798752,0.00053501554,0.0003217229],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.002215117,0.00017831638,0.9321,0.0011197584,0.0019793147,0.00048799615,0.0012241739,0.0011095947,0.00046198998,0.0033576915,0.002518512,0.05324765],"study_design_scores_gemma":[0.000091035174,0.00041110264,0.9794082,0.00056754675,0.00037494578,0.0009775911,0.001181671,0.00024756903,0.00025581385,0.0003500094,0.016109334,0.000025190438],"about_ca_topic_score_codex":0.0053325035,"about_ca_topic_score_gemma":0.0030818733,"teacher_disagreement_score":0.0053325035,"about_ca_system_score_codex":0.00091119925,"about_ca_system_score_gemma":0.00084381824,"threshold_uncertainty_score":0.027379036},"labels":[],"label_agreement":null},{"id":"W2947243905","doi":"10.1186/s13023-019-1088-3","title":"The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":28,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Hydro-Québec","funders":"Centre Hospitalier Universitaire de Nantes; AFM-Téléthon","keywords":"Disease registry; Medicine; Clinical trial; Scope (computer science); Observational study; Biobank; Interoperability; Patient registry; Disease; Family medicine; Pediatrics; Pathology; Computer science; Bioinformatics","score_opus":0.049948790399406334,"score_gpt":0.3473540445810242,"score_spread":0.2974052541816179,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2947243905","genre_codex":"methods","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.026668344,0.012511083,0.7832657,0.072127,0.0026659984,0.0054152356,0.03709696,0.012389553,0.04786023],"genre_scores_gemma":[0.13049413,0.008506301,0.79104376,0.0067919176,0.0042007985,0.00475508,0.048886433,0.0015534974,0.0037680734],"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"observational","domain_scores_codex":[0.9216223,0.05005919,0.011539068,0.007613944,0.007329392,0.0018361052],"domain_scores_gemma":[0.8375403,0.08182874,0.016929816,0.031995427,0.01663852,0.0150671275],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.100035176,0.0009163212,0.0020046465,0.0138041135,0.0020559242,0.011940789,0.005487276,0.0031217826,0.00596385],"category_scores_gemma":[0.117390424,0.0009760825,0.0018012056,0.01317319,0.00322976,0.011577587,0.021786017,0.0029644885,0.0032068337],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0008317868,0.00035015805,0.036899287,0.0035867537,0.0007154972,0.0010732186,0.0056330534,0.007740605,0.0022258007,0.470704,0.13380668,0.3364332],"study_design_scores_gemma":[0.00047610226,0.00040064976,0.017590974,0.0043301485,0.00041797143,0.0018139592,0.0027542927,0.013255601,0.0013766113,0.1213796,0.83589524,0.00030892823],"about_ca_topic_score_codex":0.005223673,"about_ca_topic_score_gemma":0.0043621254,"teacher_disagreement_score":0.100035176,"about_ca_system_score_codex":0.0043916795,"about_ca_system_score_gemma":0.02926703,"threshold_uncertainty_score":0.5290429},"labels":[],"label_agreement":null},{"id":"W2947808138","doi":"10.1186/s13023-019-1074-9","title":"Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":114,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Montreal Children's Hospital; Hospital for Sick Children","funders":"Universidade Federal do Rio Grande do Sul; Hospital de Clínicas de Porto Alegre; University of Pretoria; Actelion Pharmaceuticals; Swedish Orphan Biovitrum; JCR Pharmaceuticals; Amicus Therapeutics; Sanofi Genzyme; bluebird bio; National MPS Society; Sanofi; PTC Therapeutics; Ultragenyx Pharmaceutical; BioMarin Pharmaceutical; Horizon Pharma; McGill University; Audentes Therapeutics; Alexion Pharmaceuticals; Pfizer","keywords":"Human genetics; MEDLINE; Medicine; Political science; Biology; Genetics; Law","score_opus":0.048990503763315624,"score_gpt":0.3397914866617344,"score_spread":0.2908009828984188,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2947808138","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.006924073,0.26757747,0.06235319,0.5759627,0.015544471,0.043184366,0.004983455,0.0009841566,0.022486085],"genre_scores_gemma":[0.07519398,0.25188008,0.52931553,0.069903776,0.0031673918,0.05691823,0.007462576,0.0003246923,0.0058338502],"study_design_codex":"design_other","study_design_gemma":"systematic_review","domain_scores_codex":[0.68504506,0.2164007,0.06193744,0.0056334925,0.026764955,0.004218313],"domain_scores_gemma":[0.5010738,0.3101038,0.05384681,0.009164121,0.11169632,0.014115151],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.22659886,0.003380805,0.0075877,0.022235258,0.0035747578,0.010785026,0.011102768,0.014762066,0.00737617],"category_scores_gemma":[0.4430123,0.0027823918,0.010741606,0.013824277,0.005164717,0.010978774,0.012606861,0.011866472,0.003385017],"study_design_candidate":"systematic_review","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0004600991,0.00040643252,0.002821933,0.27740762,0.002087661,0.00083160814,0.016489996,0.0040694023,0.00062127714,0.015356685,0.24617319,0.43327412],"study_design_scores_gemma":[0.00072514894,0.00017986358,0.001854517,0.7513507,0.0018488644,0.00032205306,0.00530817,0.0019013049,0.00038320394,0.022803053,0.21308275,0.00024041337],"about_ca_topic_score_codex":0.015724065,"about_ca_topic_score_gemma":0.020531757,"teacher_disagreement_score":0.22659886,"about_ca_system_score_codex":0.018484144,"about_ca_system_score_gemma":0.101797536,"threshold_uncertainty_score":0.9537413},"labels":[],"label_agreement":null},{"id":"W2948368473","doi":"10.1186/s13023-019-1104-7","title":"Factors associated with positive and negative recommendations for cancer and non-cancer drugs for rare diseases in Canada","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":9,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of Calgary; Alberta Health; University of Alberta","funders":"Canadian Institutes of Health Research","keywords":"Medicine; Reimbursement; Population; Cancer drugs; MEDLINE; Cancer; Family medicine; Clinical trial; Environmental health; Health care; Internal medicine","score_opus":0.12135628973570828,"score_gpt":0.3672432264315804,"score_spread":0.24588693669587214,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2948368473","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":"evaluation","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":"evaluation","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.87326056,0.032553613,0.0012916733,0.032672074,0.0005221114,0.0015739514,0.029899836,0.00015393138,0.028072318],"genre_scores_gemma":[0.98526055,0.005661985,0.0027940546,0.002324319,0.00013022414,0.00019267846,0.0026131386,0.000033832686,0.0009891958],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.93819594,0.010447274,0.017364886,0.003932596,0.026593331,0.003465961],"domain_scores_gemma":[0.6394208,0.13330594,0.137307,0.0072362083,0.062293906,0.020436194],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.020714955,0.0003440898,0.00087609363,0.0045840554,0.002515758,0.003828006,0.0025096664,0.0016351327,0.0025262116],"category_scores_gemma":[0.23600678,0.000613203,0.0015013532,0.010638956,0.0012347196,0.0012048716,0.0017846412,0.0026671155,0.00020783157],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":true,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00049581693,0.00008925722,0.9570673,0.0019564577,0.00071456126,0.00035677856,0.0016963442,0.00044833738,0.00018571907,0.00047955304,0.008764674,0.027745107],"study_design_scores_gemma":[0.000081585604,0.000091115886,0.9851039,0.0015045684,0.0004319926,0.0005803793,0.0018073347,0.0008427839,0.00015306482,0.00015307196,0.009185545,0.0000646992],"about_ca_topic_score_codex":0.8894075,"about_ca_topic_score_gemma":0.9218033,"teacher_disagreement_score":0.97928506,"about_ca_system_score_codex":0.034524,"about_ca_system_score_gemma":0.10122439,"threshold_uncertainty_score":0.2504903},"labels":[],"label_agreement":null},{"id":"W2948835971","doi":"10.1186/s13023-019-1103-8","title":"“Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Mental Health and Patient Involvement","field":"Health Professions","cited_by":20,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"European Neuromuscular Centre; Muscular Dystrophy Association","keywords":"General partnership; Health care; Public relations; Biobank; Call to action; Medicine; Medical education; Business; Nursing; Political science; Marketing","score_opus":0.4387370140682319,"score_gpt":0.5226207800020821,"score_spread":0.08388376593385022,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2948835971","genre_codex":"commentary","genre_gemma":"commentary","domain_codex":null,"domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"commentary","genre_consensus":"commentary","domain_candidate":"methods","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0041974876,0.002686715,0.0029877736,0.9688432,0.011430098,0.00026027524,0.000046973666,0.00029090236,0.009256565],"genre_scores_gemma":[0.103156984,0.0061004525,0.015452482,0.8402111,0.00633603,0.0012391144,0.00019884274,0.00057134224,0.026733635],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9275562,0.054082938,0.001456156,0.0031853118,0.0067298813,0.006989492],"domain_scores_gemma":[0.888599,0.025478896,0.0050579123,0.0039139893,0.013273284,0.06367695],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.048164986,0.0018654116,0.0015171351,0.0011977245,0.024866773,0.021471923,0.006041305,0.034052808,0.024463639],"category_scores_gemma":[0.06125541,0.0013260696,0.0021676796,0.00089030346,0.01849654,0.035388768,0.033450138,0.053114235,0.010219409],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00011567783,0.00032607216,0.0016465739,0.0008735223,0.000055336717,0.0020410095,0.10189182,0.000104383595,0.0016007827,0.010943068,0.82439685,0.05600487],"study_design_scores_gemma":[0.000054436125,0.00014807748,0.001533099,0.001391166,0.00002350497,0.001212677,0.17893991,0.0001768789,0.00032607303,0.009360597,0.8067051,0.000128385],"about_ca_topic_score_codex":0.004366433,"about_ca_topic_score_gemma":0.009114024,"teacher_disagreement_score":0.95183504,"about_ca_system_score_codex":0.009418192,"about_ca_system_score_gemma":0.04019869,"threshold_uncertainty_score":0.2547238},"labels":[],"label_agreement":null},{"id":"W2952237362","doi":"10.1186/s13023-019-1125-2","title":"De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":34,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"PTC Therapeutics; Biogen; Roche","keywords":"Incidence (geometry); Medicine; Human genetics; Neuromuscular disease; Pediatrics; Physical medicine and rehabilitation; Internal medicine; Genetics; Biology; Mathematics; Disease","score_opus":0.018629794315977565,"score_gpt":0.28431023600338323,"score_spread":0.2656804416874057,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2952237362","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9860042,0.0010559028,0.0019436857,0.00019042498,0.000016694145,0.000055008863,0.010063775,0.00005502245,0.000615378],"genre_scores_gemma":[0.9818349,0.00057119207,0.003555324,0.000059967773,0.000022516713,0.00007072065,0.013673043,0.000011970415,0.00020041941],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99208075,0.0018190071,0.0020898858,0.001546796,0.0018522542,0.00061131705],"domain_scores_gemma":[0.97256696,0.009741895,0.010787105,0.003854392,0.0024420696,0.00060762704],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0058501493,0.00034239364,0.00056826544,0.008211095,0.00050118554,0.0015965764,0.00076944946,0.00050885545,0.00095619546],"category_scores_gemma":[0.02112884,0.00030344372,0.0004937408,0.010774845,0.000604218,0.0010043493,0.0017030864,0.00030310717,0.00033171193],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0001324151,0.000020608912,0.97694355,0.00018870752,0.00017250334,0.00038225393,0.0006291895,0.0005083372,0.0010148606,0.00032666957,0.00092255825,0.018758332],"study_design_scores_gemma":[0.0000109377215,0.000038771785,0.99169594,0.00011201391,0.00017381397,0.0008108985,0.0005800541,0.0016894696,0.0015899176,0.00022369552,0.0030531222,0.000021289605],"about_ca_topic_score_codex":0.012466279,"about_ca_topic_score_gemma":0.012113851,"teacher_disagreement_score":0.012466279,"about_ca_system_score_codex":0.0014231901,"about_ca_system_score_gemma":0.0018252782,"threshold_uncertainty_score":0.030938923},"labels":[],"label_agreement":null},{"id":"W2954503239","doi":"10.1186/s13023-019-1138-x","title":"Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?","year":2019,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":8,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Hospital for Sick Children","keywords":"Brachydactyly; Medicine; Second toe; Dermatology; Genetics; Anatomy; Biology; Pediatrics","score_opus":0.0434923029663481,"score_gpt":0.2991151008054097,"score_spread":0.2556227978390616,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2954503239","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.45418495,0.52619207,0.0010345635,0.00799708,0.0005024698,0.000026928386,0.0002937994,0.00005323321,0.009714926],"genre_scores_gemma":[0.8690154,0.12454303,0.0013411406,0.002497067,0.0009903366,0.000020247713,0.0003414152,0.000012495161,0.0012388197],"study_design_codex":"case_report","study_design_gemma":"not_applicable","domain_scores_codex":[0.9995443,0.000070689275,0.000105737745,0.000096876734,0.00010627871,0.000076136224],"domain_scores_gemma":[0.99828964,0.0008052335,0.0006718648,0.00003904231,0.00009120754,0.00010302703],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005052822,0.00026907402,0.00080814323,0.0017305863,0.00038329052,0.0008052894,0.00040112773,0.0014804369,0.0032426866],"category_scores_gemma":[0.0023465022,0.00020789537,0.00041506227,0.0027744926,0.0012254675,0.0012773265,0.0006049711,0.0007773494,0.00048259803],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010633514,0.0001323381,0.3971795,0.005957993,0.00056497357,0.4182365,0.0024263654,0.00023609489,0.008704437,0.0072883666,0.007927448,0.15028259],"study_design_scores_gemma":[0.00009012581,0.00013895072,0.16645773,0.0032570108,0.00047667776,0.7974235,0.0016663524,0.00022887003,0.0008992032,0.0046033454,0.024694698,0.00006353879],"about_ca_topic_score_codex":0.0011603732,"about_ca_topic_score_gemma":0.001123427,"teacher_disagreement_score":0.0032426866,"about_ca_system_score_codex":0.00028469894,"about_ca_system_score_gemma":0.00044138817,"threshold_uncertainty_score":0.010847926},"labels":[],"label_agreement":null},{"id":"W2983338132","doi":"10.1186/s13023-019-1232-0","title":"The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":47,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Stichting Zabawas; Stichting Zeldzame Ziekten Fonds; University of British Columbia","keywords":"Neurocognitive; Phenotype; Medicine; Pediatrics; Hunter syndrome; Internal medicine; Cognition; Genetics; Psychiatry; Biology","score_opus":0.009646697538988726,"score_gpt":0.25825572403740166,"score_spread":0.24860902649841293,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2983338132","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99595755,0.00041024576,0.00069887785,0.00011426049,0.000009041848,0.000019281164,0.00024325156,0.00003178163,0.002515736],"genre_scores_gemma":[0.9985877,0.00021119483,0.0004358225,0.000072407325,0.000032850687,0.000014477873,0.00021453008,0.000012837626,0.0004181909],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99982554,0.00002815144,0.000025161014,0.000038992486,0.00004508758,0.00003714793],"domain_scores_gemma":[0.99949837,0.00010494749,0.00017062396,0.000026329915,0.000076416116,0.0001233946],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00023750594,0.00072543597,0.00032676492,0.0008025404,0.00035590588,0.00043904764,0.00034302322,0.00038960532,0.0032873375],"category_scores_gemma":[0.00094180665,0.00012769646,0.00022694294,0.0003437046,0.00050098135,0.00025188708,0.00062385964,0.0004647545,0.0007376338],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0017187566,0.0003764925,0.7383605,0.00024022945,0.00012932862,0.15070455,0.0013279129,0.0005020745,0.06344995,0.0005336007,0.0018643178,0.0407922],"study_design_scores_gemma":[0.00005655087,0.000725028,0.745379,0.000057362966,0.000087420296,0.24613293,0.0004911255,0.00025810886,0.0043320744,0.0005437238,0.0019175069,0.000019243987],"about_ca_topic_score_codex":0.0008054156,"about_ca_topic_score_gemma":0.00076383475,"teacher_disagreement_score":0.0032873375,"about_ca_system_score_codex":0.00020098078,"about_ca_system_score_gemma":0.00024670613,"threshold_uncertainty_score":0.010997236},"labels":[],"label_agreement":null},{"id":"W3002669956","doi":"10.1186/s13023-019-1276-1","title":"Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review","year":2020,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Queen's University; McMaster University; University of Calgary; University of Alberta; Hospital for Sick Children; BC Children's Hospital; SickKids Foundation; Université de Sherbrooke; Western University; University of Toronto; Newborn Screening Ontario; University of Manitoba; Izaak Walton Killam Health Centre; Ottawa Hospital; McGill University Health Centre; McGill University; University of Ottawa; Institute for Clinical Evaluative Sciences; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research","keywords":"Medicine; Psychological intervention; Pediatrics; Newborn screening; Intensive care medicine; Psychiatry","score_opus":0.024469213681151045,"score_gpt":0.32665551687289107,"score_spread":0.30218630319174,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3002669956","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0008845338,0.9980793,0.00010182974,0.00022212006,0.00007433869,0.0000891016,0.00033161126,0.0000047356243,0.00021232272],"genre_scores_gemma":[0.011346292,0.98707706,0.00049153744,0.00037017025,0.00009890849,0.00026363853,0.00030237492,0.0000047633534,0.000045226334],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.9884449,0.0028088747,0.0060121254,0.0008127096,0.0016094744,0.0003118758],"domain_scores_gemma":[0.89323163,0.08263003,0.017084094,0.00082568306,0.005636894,0.0005916122],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0132596055,0.0014066724,0.006410505,0.022225693,0.0006907297,0.0032683841,0.0018499566,0.0018561886,0.0033633136],"category_scores_gemma":[0.06058799,0.00096857786,0.0059936647,0.023710052,0.0010448004,0.0034239371,0.0022462553,0.0011807171,0.00031652141],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00028054006,0.000026465585,0.0038409585,0.9104287,0.0056000645,0.00019356035,0.0004077031,0.00010464169,0.00013140663,0.00045028212,0.002077832,0.07645788],"study_design_scores_gemma":[0.00014839202,0.0002296568,0.01479074,0.90485513,0.043587252,0.00090884976,0.00076257816,0.000066064,0.00022933527,0.0005294187,0.033837687,0.000054910288],"about_ca_topic_score_codex":0.0050678663,"about_ca_topic_score_gemma":0.008853571,"teacher_disagreement_score":0.022225693,"about_ca_system_score_codex":0.003618414,"about_ca_system_score_gemma":0.009356929,"threshold_uncertainty_score":0.07012433},"labels":[],"label_agreement":null},{"id":"W3006126831","doi":"10.1186/s13023-020-1303-2","title":"Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"H2020 European Research Council; Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu; Nierstichting; Narodowym Centrum Nauki; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Narodowe Centrum Nauki; Deutsche Forschungsgemeinschaft","keywords":"Exome sequencing; Genetic heterogeneity; Genetics; Biology; Compound heterozygosity; Cilium; Gene duplication; Nephronophthisis; Allele; Allelic heterogeneity; Missense mutation; Ectodermal dysplasia; Ciliopathies; Craniofacial; Genetic disorder; Gene; Mutation; Phenotype","score_opus":0.008257108497530693,"score_gpt":0.23173853738761793,"score_spread":0.22348142889008724,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3006126831","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99859816,0.00015633181,0.00047874934,0.000052998632,0.000006892678,0.000031527456,0.00013196158,0.000009968172,0.00053347513],"genre_scores_gemma":[0.9985562,0.00017729924,0.00059926417,0.00008531154,0.000010798318,0.00001314087,0.0001703973,0.00001027005,0.00037718998],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.9995485,0.000038569586,0.00006901762,0.00017870763,0.00008597552,0.000079181555],"domain_scores_gemma":[0.9995167,0.00011031663,0.00015203904,0.00003339415,0.00004498313,0.00014243815],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003516323,0.0014788834,0.00080853305,0.0016926297,0.0010982492,0.0006617895,0.000608703,0.0012486118,0.002089834],"category_scores_gemma":[0.0013016943,0.0006888243,0.0005673644,0.0010349769,0.00078583887,0.0002934951,0.0011596958,0.00050611875,0.00024920353],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00087313994,0.0003296818,0.21195114,0.0001453422,0.0003112797,0.7382956,0.0030682548,0.00022787537,0.033822138,0.000734569,0.00047121238,0.009769662],"study_design_scores_gemma":[0.00015661513,0.00047634594,0.2996526,0.00004580978,0.00028143232,0.69194406,0.00078139204,0.0006030406,0.0038096772,0.00030634875,0.0018873251,0.000055337725],"about_ca_topic_score_codex":0.0036106484,"about_ca_topic_score_gemma":0.0041744485,"teacher_disagreement_score":0.0036106484,"about_ca_system_score_codex":0.0004186067,"about_ca_system_score_gemma":0.0005369495,"threshold_uncertainty_score":0.0071792603},"labels":[],"label_agreement":null},{"id":"W3016105827","doi":"10.1186/s13023-020-01358-z","title":"Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Kingston General Hospital; Queen's University; Alberta Children's Hospital; Centre Hospitalier Universitaire de Sherbrooke; McMaster University; McGill University; London Health Sciences Centre; Children's Hospital of Eastern Ontario; University of Manitoba; BC Children's Hospital; University of British Columbia; Hamilton Health Sciences; Izaak Walton Killam Health Centre; Stollery Children's Hospital; Janeway Children's Health and Rehabilitation Centre; University of Alberta; University of Ottawa; Dalhousie University; Ottawa Hospital; Centre Hospitalier Universitaire Sainte-Justine; Bruyère; Hospital for Sick Children; Western University; Memorial University of Newfoundland; University of Toronto; Montreal Children's Hospital; University of Calgary; Health Sciences Centre; SickKids Foundation; Newborn Screening Ontario","funders":"Canadian Institutes of Health Research","keywords":"Data quality; Minimum Data Set; Data collection; Medicine; Psychological intervention; Quality (philosophy); Missing data; Family medicine; Computer science; Operations management; Nursing; Engineering","score_opus":0.1748213141279013,"score_gpt":0.41885592091132695,"score_spread":0.24403460678342564,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3016105827","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":"methods","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.46950403,0.033325188,0.11922672,0.18623465,0.0035824482,0.034623228,0.10474565,0.0019842356,0.046773948],"genre_scores_gemma":[0.755136,0.006403034,0.18099344,0.009725091,0.0005193233,0.014552429,0.03033593,0.0005746269,0.0017600965],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.53378046,0.18465328,0.06597068,0.019562552,0.18404935,0.0119836405],"domain_scores_gemma":[0.24762541,0.2027976,0.051027775,0.057334792,0.41967982,0.02153456],"candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.46423122,0.0016803617,0.0024378584,0.009894709,0.0101645235,0.011052931,0.011860775,0.0019407572,0.0023190195],"category_scores_gemma":[0.5702895,0.0015579915,0.0032878376,0.0198289,0.0068654716,0.004059663,0.00961831,0.0039312784,0.00037847424],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_system_candidate":true,"about_ca_system_consensus":true,"study_design_scores_codex":[0.0017552979,0.00019701672,0.7596195,0.006506037,0.0023404874,0.00022343046,0.02602756,0.0036158287,0.0007831342,0.007581047,0.0493636,0.14198698],"study_design_scores_gemma":[0.0004004019,0.0005383462,0.90557027,0.008568126,0.0008371589,0.0001604386,0.008264543,0.0069602258,0.0013624296,0.0018474465,0.06508525,0.00040530972],"about_ca_topic_score_codex":0.9569532,"about_ca_topic_score_gemma":0.9647288,"teacher_disagreement_score":0.9569532,"about_ca_system_score_codex":0.1402392,"about_ca_system_score_gemma":0.33200806,"threshold_uncertainty_score":0.99720067},"labels":[],"label_agreement":null},{"id":"W3016509977","doi":"10.1186/s13023-020-01352-5","title":"Detection of alpha-1 antitrypsin deficiency: the past, present and future","year":2020,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Protease and Inhibitor Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Queen's University","funders":"Alpha-1 Foundation; Ironwood Pharmaceuticals, Incorporated; National Institutes of Health; Grifols; CSL Behring; Shire Canada; AstraZeneca","keywords":"Alpha 1-antitrypsin deficiency; Medicine; Intensive care medicine; Disease; Pulmonary disease; Human genetics; Pathology; Immunology; Internal medicine; Biology; Genetics","score_opus":0.011738077484527246,"score_gpt":0.2606823431517274,"score_spread":0.24894426566720015,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3016509977","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.000063579064,0.99872845,0.000059860264,0.0005533847,0.00021641952,0.000001921068,0.0000073624574,0.0000039739375,0.00036507752],"genre_scores_gemma":[0.00052572065,0.99852556,0.00013353389,0.0003032603,0.00026776543,0.0000034145703,0.00001378423,9.434564e-7,0.0002259693],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9995894,0.000082115504,0.00007108301,0.00007416806,0.00014789506,0.000035295725],"domain_scores_gemma":[0.9988152,0.0006326549,0.0001517299,0.000022013088,0.00028777134,0.00009072017],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0014602795,0.00088317506,0.0016401473,0.002793031,0.00027404312,0.0011676485,0.0009856082,0.001812683,0.0020141907],"category_scores_gemma":[0.0017902972,0.00032153985,0.0005985778,0.0018685147,0.0007541181,0.0017681153,0.0005798866,0.0022972876,0.0013339918],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00012030065,0.00004290716,0.0004259195,0.011685977,0.00009207976,0.00031250753,0.00005854202,0.00015926352,0.0007232461,0.002562888,0.02734566,0.9564707],"study_design_scores_gemma":[0.000042496886,0.00018677903,0.0019453302,0.009555268,0.00026455108,0.0044926517,0.0001401092,0.00016214339,0.00048328936,0.0031606073,0.9795314,0.00003537451],"about_ca_topic_score_codex":0.001308187,"about_ca_topic_score_gemma":0.001762732,"teacher_disagreement_score":0.002793031,"about_ca_system_score_codex":0.00076583214,"about_ca_system_score_gemma":0.0012913259,"threshold_uncertainty_score":0.007722795},"labels":[],"label_agreement":null},{"id":"W3022708765","doi":"10.1186/s13023-020-01384-x","title":"Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Nursing Research","keywords":"RYR1; Malignant hyperthermia; Ryanodine receptor; Central core disease; Skeletal muscle; Medicine; Bioinformatics; Biology; Internal medicine; Cancer research; Pathology; Receptor","score_opus":0.026510916866813596,"score_gpt":0.27624438856608385,"score_spread":0.24973347169927027,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3022708765","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0007950734,0.99627894,0.00031191978,0.00043145803,0.00018348625,0.0005133375,0.0007327302,0.000014596781,0.0007383985],"genre_scores_gemma":[0.0035877586,0.9929938,0.001280283,0.0004025611,0.000072070674,0.00077288854,0.00062293245,0.000010003956,0.00025775458],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.9895963,0.0023691985,0.0051931418,0.0005873172,0.0019560987,0.00029796732],"domain_scores_gemma":[0.96349317,0.024242919,0.006772348,0.00065175694,0.0045450074,0.0002948294],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0141445,0.0019951635,0.0069981767,0.033489503,0.0012446714,0.0033221263,0.0022438746,0.0025988594,0.0054322914],"category_scores_gemma":[0.036275726,0.0013459276,0.0054866225,0.030583026,0.0011236602,0.0034076306,0.002816948,0.0011836507,0.0010476646],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0001485711,0.000028220025,0.0005512455,0.8849887,0.0017430454,0.00034955473,0.0005661132,0.00013354608,0.00057421386,0.0006784459,0.0048690294,0.10536925],"study_design_scores_gemma":[0.0000531541,0.00014754556,0.0020626602,0.91673625,0.0110033145,0.00054444076,0.0004975504,0.000062081424,0.0003891943,0.00031395172,0.06815648,0.00003329844],"about_ca_topic_score_codex":0.0064585553,"about_ca_topic_score_gemma":0.015691802,"teacher_disagreement_score":0.033489503,"about_ca_system_score_codex":0.0037774283,"about_ca_system_score_gemma":0.016457535,"threshold_uncertainty_score":0.07480413},"labels":[],"label_agreement":null},{"id":"W3032872146","doi":"10.1186/s13023-020-01379-8","title":"Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies","year":2020,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":151,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"BC Children's Hospital; University of British Columbia; Glenrose Rehabilitation Hospital; University of Alberta","funders":"Rosetrees Trust; Dietmar Hopp Stiftung; National Institute for Health and Care Research","keywords":"Hyperphenylalaninemia; Tetrahydrobiopterin; Guideline; Monoamine neurotransmitter; Medicine; Dopamine; Neurotransmitter; Biopterin; Intensive care medicine; Psychiatry; Serotonin; Internal medicine; Biology; Pathology; Genetics; Nitric oxide synthase","score_opus":0.03784360775010855,"score_gpt":0.3180389428564055,"score_spread":0.28019533510629696,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3032872146","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00077191374,0.94380766,0.0058947285,0.019748122,0.0067306333,0.0009525575,0.002857009,0.00028002626,0.018957397],"genre_scores_gemma":[0.006479377,0.92366976,0.030948767,0.015477777,0.0014760825,0.0016808412,0.008358287,0.00006681364,0.011842352],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.99731654,0.00079107244,0.0007909065,0.00016522694,0.0007823708,0.00015387734],"domain_scores_gemma":[0.9966151,0.0010845999,0.0004691006,0.000072574796,0.0016257899,0.0001329259],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003572698,0.0010894596,0.0021447192,0.004412662,0.00051985757,0.0011628856,0.003816129,0.004008235,0.0065499176],"category_scores_gemma":[0.0062916363,0.00046825712,0.0028912702,0.002553317,0.0005134969,0.0011609935,0.0010265049,0.0030234824,0.004369436],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0001404937,0.000100663274,0.00032894002,0.039958708,0.00034733082,0.0009006083,0.00015613159,0.0006293147,0.001215987,0.0064594145,0.36687788,0.58288455],"study_design_scores_gemma":[0.00013154851,0.000070723974,0.0010561043,0.03511879,0.0005373702,0.0016028221,0.00006743967,0.00016874178,0.00041504638,0.002601047,0.9582014,0.000028859178],"about_ca_topic_score_codex":0.0067250305,"about_ca_topic_score_gemma":0.010361941,"teacher_disagreement_score":0.0067250305,"about_ca_system_score_codex":0.0019719398,"about_ca_system_score_gemma":0.0063592787,"threshold_uncertainty_score":0.02191168},"labels":[],"label_agreement":null},{"id":"W3036624594","doi":"10.1186/s13023-020-01419-3","title":"Efficacy and tolerability of the investigational topical cream SD-101 (6% allantoin) in patients with epidermolysis bullosa: a phase 3, randomized, double-blind, vehicle-controlled trial (ESSENCE study)","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Galderma; Amryt Pharma; Mylan; Regeneron Pharmaceuticals; Amicus Therapeutics; Sanofi; Valeant Pharmaceuticals International; Celgene","keywords":"Medicine; Tolerability; Allantoin; Epidermolysis bullosa; Randomized controlled trial; Epidermolysis bullosa simplex; Confidence interval; Hazard ratio; Body surface area; Surgery; Dermatology; Internal medicine; Adverse effect","score_opus":0.019508877073480303,"score_gpt":0.285683329555379,"score_spread":0.2661744524818987,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3036624594","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9937535,0.0035077645,0.00026567624,0.00018319699,0.00011451051,0.0009950929,0.00036709366,0.00003941494,0.0007737783],"genre_scores_gemma":[0.994504,0.0020917945,0.0005490849,0.0004207295,0.0001426214,0.0010055067,0.00048056425,0.000008727483,0.0007970124],"study_design_codex":"randomized_trial","study_design_gemma":"randomized_trial","domain_scores_codex":[0.9996716,0.00015752332,0.000028929084,0.00005494133,0.00003554451,0.00005152275],"domain_scores_gemma":[0.9993993,0.00016118465,0.00017653476,0.00004202436,0.00004979971,0.00017113992],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0012448545,0.0007900414,0.0017922506,0.00022516394,0.0002518196,0.0007228329,0.00057514076,0.000896331,0.0034669042],"category_scores_gemma":[0.00092640164,0.00040118262,0.001565903,0.00026512842,0.0005958442,0.00067035883,0.00023211337,0.0015896835,0.0004904397],"study_design_candidate":"randomized_trial","study_design_consensus":"randomized_trial","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.93034685,0.016521486,0.0028877747,0.0014287686,0.0012543413,0.000097434706,0.00011552982,0.00044935284,0.010294298,0.00010234106,0.00096216844,0.035539754],"study_design_scores_gemma":[0.83403015,0.15630573,0.0071312827,0.000044886685,0.00048825605,0.00008635211,0.000038635484,0.00043152508,0.0007124974,0.00005951166,0.0006553351,0.000015767951],"about_ca_topic_score_codex":0.00055703527,"about_ca_topic_score_gemma":0.00130155,"teacher_disagreement_score":0.0034669042,"about_ca_system_score_codex":0.00047058906,"about_ca_system_score_gemma":0.0009137452,"threshold_uncertainty_score":0.011597931},"labels":[],"label_agreement":null},{"id":"W3037790712","doi":"10.1186/s13023-020-01438-0","title":"Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Hyperglycemia and glycemic control in critically ill and hospitalized patients","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children","funders":"Medical Research Council; Research Councils UK; Royal Society; University of Manchester; Wellcome Trust","keywords":"Congenital hyperinsulinism; Medicine; Cohort; Pediatrics; Human genetics; Internal medicine; Hyperinsulinism; Biology; Genetics; Insulin","score_opus":0.015651167634007233,"score_gpt":0.25497850740163425,"score_spread":0.23932733976762702,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3037790712","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9994466,0.000108154585,0.00004898014,0.000028411347,0.0000031307,0.0000055966657,0.00024091951,0.000002602478,0.00011572538],"genre_scores_gemma":[0.99895513,0.0001061792,0.00011347052,0.000020773825,0.000005064478,0.000012808297,0.0006871311,0.0000027916658,0.00009660391],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9995322,0.0000898379,0.000048411894,0.00011935972,0.00009136219,0.000118796],"domain_scores_gemma":[0.99805033,0.00024398176,0.0008655822,0.00015122439,0.00026290904,0.00042597952],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0010427664,0.0003052907,0.0003879139,0.000982533,0.0009245842,0.00087935396,0.00050070154,0.0004735344,0.0009164136],"category_scores_gemma":[0.0027697997,0.0002871625,0.0005755907,0.0009797916,0.0003527808,0.00069954176,0.0009102412,0.0010328871,0.00025958012],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00007558055,0.000019539271,0.99869066,0.0000032939959,0.000011601645,0.0002784881,0.00018083378,0.00001445059,0.00013313734,0.000007250527,0.000041430212,0.00054370065],"study_design_scores_gemma":[0.000003809799,0.00018330243,0.99798965,0.00000719953,0.000013465805,0.0011662045,0.00034445693,0.000067096415,0.000057793524,0.000016346186,0.00014628828,0.0000044073645],"about_ca_topic_score_codex":0.007669387,"about_ca_topic_score_gemma":0.006160934,"teacher_disagreement_score":0.007669387,"about_ca_system_score_codex":0.0005823735,"about_ca_system_score_gemma":0.00062431674,"threshold_uncertainty_score":0.015249491},"labels":[],"label_agreement":null},{"id":"W3038147181","doi":"10.1186/s13023-020-01450-4","title":"Inhaled granulocyte-macrophage colony stimulating factor for mild-to-moderate autoimmune pulmonary alveolar proteinosis - a six month phase II randomized study with 24 months of follow-up","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neonatal Respiratory Health Research","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Alberta","funders":"National Key Research and Development Program of China; Chinese Academy of Medical Sciences; National Natural Science Foundation of China","keywords":"Pulmonary alveolar proteinosis; Granulocyte macrophage colony-stimulating factor; Medicine; Granulocyte; Immunology; Alveolar macrophage; Granulocyte macrophage colony-stimulating factor receptor; Macrophage; Granulocyte colony-stimulating factor; Internal medicine; Lung; Cytokine; Macrophage colony-stimulating factor; Biology; In vitro; Chemotherapy; Biochemistry","score_opus":0.04139816524429516,"score_gpt":0.3475751092216764,"score_spread":0.3061769439773812,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3038147181","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99007714,0.0028520701,0.0006510048,0.0003599998,0.00037758754,0.0042778766,0.00066551554,0.00007303782,0.00066579395],"genre_scores_gemma":[0.98079747,0.0024487963,0.0022679318,0.0011575317,0.0007635001,0.009081712,0.00118089,0.000025722633,0.0022764304],"study_design_codex":"randomized_trial","study_design_gemma":"randomized_trial","domain_scores_codex":[0.9989944,0.0004941064,0.00006546567,0.00016223844,0.0000961452,0.00018765489],"domain_scores_gemma":[0.9985292,0.0002735389,0.00031742567,0.00018517466,0.00013144419,0.0005631358],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0027652003,0.001687839,0.004490663,0.00055657275,0.00058232364,0.0011952342,0.0011302356,0.0021944728,0.0038493325],"category_scores_gemma":[0.0016267154,0.00069924456,0.0020588974,0.0005975306,0.001544872,0.0009558161,0.00048271444,0.0024864292,0.0008557127],"study_design_candidate":"randomized_trial","study_design_consensus":"randomized_trial","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.96833044,0.01931149,0.0007845611,0.00030186176,0.0005303748,0.00003266141,0.00003238447,0.000167692,0.003610296,0.000037080845,0.0002487747,0.0066123367],"study_design_scores_gemma":[0.8542402,0.14299753,0.0018488494,0.000012661135,0.00020616016,0.000023458399,0.000012122807,0.00011217803,0.00030929394,0.00003890591,0.00019075828,0.000007907736],"about_ca_topic_score_codex":0.0006436108,"about_ca_topic_score_gemma":0.0011176628,"teacher_disagreement_score":0.004490663,"about_ca_system_score_codex":0.00056422065,"about_ca_system_score_gemma":0.0013400811,"threshold_uncertainty_score":0.01462394},"labels":[],"label_agreement":null},{"id":"W3044462916","doi":"10.1186/s13023-020-01435-3","title":"Wound closure in epidermolysis bullosa: data from the vehicle arm of the phase 3 ESSENCE Study","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Galderma; Mylan; Amicus Therapeutics; Regeneron Pharmaceuticals; Celgene; Sanofi; Valeant Pharmaceuticals International; Pfizer","keywords":"Epidermolysis bullosa; Phase (matter); Medicine; Closure (psychology); Wound healing; Junctional epidermolysis bullosa (veterinary medicine); Wound closure; Dermatology; Surgery; Biology; Chemistry; Genetics; Political science; Mutation","score_opus":0.036182139357870735,"score_gpt":0.31626662307769116,"score_spread":0.2800844837198204,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3044462916","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9828486,0.011091421,0.0007605123,0.0003062587,0.00008910444,0.00083234865,0.0026187343,0.000047733574,0.0014051223],"genre_scores_gemma":[0.98948634,0.0044915904,0.000608535,0.0006058422,0.00012257972,0.0007859075,0.003219697,0.000019453946,0.00066011463],"study_design_codex":"randomized_trial","study_design_gemma":"observational","domain_scores_codex":[0.99891925,0.00066703005,0.00008810975,0.00009245251,0.00013032138,0.00010289055],"domain_scores_gemma":[0.9977894,0.00074136566,0.00077142264,0.00022037329,0.0002097075,0.0002678159],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0030282266,0.00055394584,0.0014779535,0.0002116225,0.00016906574,0.00076443545,0.00048456702,0.00063813047,0.0029103707],"category_scores_gemma":[0.0024268022,0.00018830647,0.0016312716,0.00029950868,0.00038179732,0.0006611273,0.0003333652,0.0009692241,0.00032488312],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.8709809,0.009195168,0.020905793,0.0035202538,0.008642987,0.00014268486,0.00016215086,0.0010109111,0.011650055,0.00033763814,0.0040259436,0.06942546],"study_design_scores_gemma":[0.6245536,0.26831892,0.0885746,0.00038703284,0.0070566,0.00049118145,0.00020235167,0.0010039274,0.0025174585,0.00042709458,0.0064075305,0.00005968358],"about_ca_topic_score_codex":0.00036525002,"about_ca_topic_score_gemma":0.00072993024,"teacher_disagreement_score":0.0030282266,"about_ca_system_score_codex":0.00023138289,"about_ca_system_score_gemma":0.00055963756,"threshold_uncertainty_score":0.016014993},"labels":[],"label_agreement":null},{"id":"W3047385556","doi":"10.1186/s13023-020-01464-y","title":"Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies","year":2020,"lang":"en","type":"erratum","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"BC Children's Hospital; University of British Columbia; Glenrose Rehabilitation Hospital; University of Alberta","funders":"Rosetrees Trust; National Institute for Health and Care Research","keywords":"Tetrahydrobiopterin; Guideline; Human genetics; Medicine; Political science; Intensive care medicine; Biology; Law; Genetics; Internal medicine","score_opus":0.01742428668511173,"score_gpt":0.2729290351641754,"score_spread":0.2555047484790637,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3047385556","genre_codex":"editorial","genre_gemma":"other","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00026833024,0.008322272,0.002399228,0.15835859,0.81438667,0.0001346497,0.0035593677,0.0005341995,0.012036703],"genre_scores_gemma":[0.011935042,0.04485622,0.024574347,0.32105342,0.2952687,0.00084911607,0.014530342,0.0027167825,0.28421602],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.99539846,0.0009908115,0.0009336021,0.00034680116,0.0019368783,0.00039345454],"domain_scores_gemma":[0.97490716,0.006687536,0.0012400167,0.0007785088,0.015171162,0.0012155329],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004776439,0.0014023447,0.0015404365,0.0026406152,0.0013246553,0.0027848643,0.002452811,0.0062113563,0.04292695],"category_scores_gemma":[0.04772332,0.0007278093,0.00197142,0.0014999241,0.0014582236,0.001738544,0.001352702,0.009097611,0.035413515],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000014404783,0.000003585617,0.000030441142,0.00012564896,0.000004971551,0.00013431812,0.000011568686,0.000026766065,0.000026922255,0.00028755903,0.99119276,0.008141037],"study_design_scores_gemma":[0.000052461644,0.000015348085,0.00031023222,0.00096372596,0.000029970784,0.00083365437,0.00003859774,0.00009317242,0.00013646306,0.00085847557,0.99664354,0.000024458992],"about_ca_topic_score_codex":0.015365342,"about_ca_topic_score_gemma":0.021651998,"teacher_disagreement_score":0.04292695,"about_ca_system_score_codex":0.002097607,"about_ca_system_score_gemma":0.007413505,"threshold_uncertainty_score":0.14360493},"labels":[],"label_agreement":null},{"id":"W3048053159","doi":"10.1186/s13023-020-01483-9","title":"Characterization of tracheobronchomalacia in infants with hypophosphatasia","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Alkaline Phosphatase Research Studies","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McMaster University","funders":"Alexion Pharmaceuticals","keywords":"Tracheobronchomalacia; Medicine; Respiratory failure; Respiratory system; Respiratory physiology; Pulmonary function testing; Pediatrics; Internal medicine; Surgery; Bronchoscopy","score_opus":0.0175926541666007,"score_gpt":0.27461565157855566,"score_spread":0.25702299741195495,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3048053159","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99606496,0.0020701056,0.00046073514,0.000046028737,0.000008952946,0.00003945763,0.00014474947,0.000011322766,0.0011538377],"genre_scores_gemma":[0.99857557,0.00058271666,0.00050602586,0.000029341938,0.0000138493815,0.000016806407,0.00019073172,0.0000032087887,0.000081745304],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9994056,0.00010588148,0.00015101931,0.00008207457,0.00014425819,0.00011106829],"domain_scores_gemma":[0.99886143,0.00032823285,0.00039524928,0.000038558705,0.00019648788,0.00018007112],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00078667316,0.00031528325,0.00048618336,0.002406328,0.00032608863,0.0006715037,0.00034851403,0.000598689,0.0008650886],"category_scores_gemma":[0.0020535237,0.00020187828,0.00038745283,0.0008860518,0.0004046994,0.00049034995,0.00047669647,0.00033235166,0.00018588586],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00022986702,0.000027935943,0.95541894,0.000111849324,0.000024315046,0.028391667,0.0002193984,0.00009711754,0.009124993,0.000053748714,0.00008477426,0.006215523],"study_design_scores_gemma":[0.0000061523597,0.00036120322,0.86184967,0.000063144704,0.0000624562,0.13249575,0.0006358738,0.0004323212,0.003121116,0.000056028686,0.00090659823,0.000009694854],"about_ca_topic_score_codex":0.0010446676,"about_ca_topic_score_gemma":0.00064619374,"teacher_disagreement_score":0.002406328,"about_ca_system_score_codex":0.00023289348,"about_ca_system_score_gemma":0.00030493757,"threshold_uncertainty_score":0.004160404},"labels":[],"label_agreement":null},{"id":"W3048803772","doi":"10.1186/s13023-020-01493-7","title":"A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Ottawa; Wilfrid Laurier University; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"Medical Research Council; Horizon 2020 Framework Programme; Damp Stiftung; European Commission; National Institute for Health and Care Research; Wellcome Trust","keywords":"Human genetics; Computational biology; MEDLINE; Engineering ethics; Computer science; Data science; Medicine; Biology; Genetics; Engineering","score_opus":0.024451467273811204,"score_gpt":0.29894699007001085,"score_spread":0.27449552279619965,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3048803772","genre_codex":"methods","genre_gemma":"methods","domain_codex":null,"domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"methods","genre_consensus":"methods","domain_candidate":"methods","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0013140932,0.016370174,0.32336056,0.056710847,0.011748592,0.3168762,0.22123408,0.02736165,0.025023846],"genre_scores_gemma":[0.0016047336,0.0066851126,0.7314663,0.0052215094,0.0009872887,0.2277267,0.017327884,0.001813369,0.007167149],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.6763312,0.1735098,0.12232113,0.007940001,0.018208887,0.0016889204],"domain_scores_gemma":[0.27149573,0.55251634,0.04959154,0.043215744,0.07652071,0.006659968],"candidate_categories":["metaresearch","open_science"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.29331863,0.0050954893,0.009088009,0.031406827,0.0030564608,0.014028932,0.009762007,0.009545044,0.15927848],"category_scores_gemma":[0.5197461,0.010009667,0.015955439,0.031433947,0.0056770365,0.011706204,0.0123257805,0.012149322,0.07654056],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0009413528,0.00017868218,0.00075344456,0.21739396,0.0015485001,0.0005010403,0.0031104796,0.0017075479,0.0016331184,0.01925938,0.5840887,0.16888385],"study_design_scores_gemma":[0.0035098772,0.00029632612,0.0016202644,0.11809245,0.00097013084,0.0005877069,0.0013840504,0.0024489868,0.0011279626,0.043699283,0.8257162,0.0005466909],"about_ca_topic_score_codex":0.005342909,"about_ca_topic_score_gemma":0.013461087,"teacher_disagreement_score":0.990238,"about_ca_system_score_codex":0.008105066,"about_ca_system_score_gemma":0.06531306,"threshold_uncertainty_score":0.87146395},"labels":[],"label_agreement":null},{"id":"W3082520350","doi":"10.1186/s13023-020-01519-0","title":"Registries for orphan drugs: generating evidence or marketing tools?","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":28,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia","funders":"Amsterdam University Medical Centers; Idorsia Pharmaceuticals; Recordati Rare Diseases; Amicus Therapeutics; Ultragenyx Pharmaceutical; Sanofi","keywords":"Orphan drug; Rare disease; Pharmaceutical industry; Business; Independence (probability theory); Health care; Disease; Drug approval; Medicine; Drug; Pharmacology; Bioinformatics; Economic growth; Economics","score_opus":0.37476236702029425,"score_gpt":0.4150631738334084,"score_spread":0.040300806813114154,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3082520350","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":null,"domain_gemma":"evaluation","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":"evaluation","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0038852245,0.07709262,0.056574415,0.81537086,0.012989462,0.0023074097,0.0052838847,0.0006566165,0.025839465],"genre_scores_gemma":[0.20202266,0.12355372,0.2438849,0.3597727,0.036798194,0.017005697,0.008589192,0.0010605286,0.0073123695],"study_design_codex":"design_other","study_design_gemma":"observational","domain_scores_codex":[0.5435122,0.3752137,0.031427577,0.0074553257,0.04002891,0.002362292],"domain_scores_gemma":[0.099276006,0.764895,0.048257977,0.04547847,0.037133038,0.0049595404],"candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.42545566,0.0018684461,0.005261728,0.016121682,0.0014966477,0.021330416,0.005809138,0.010394385,0.026463207],"category_scores_gemma":[0.77227753,0.0017821463,0.0031526347,0.015917704,0.008634817,0.03608749,0.009327705,0.012702012,0.006004128],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0008212836,0.00025434876,0.009909754,0.0119194025,0.001360198,0.0002588464,0.0013229683,0.0016262091,0.00013334023,0.25704682,0.28027114,0.43507564],"study_design_scores_gemma":[0.0015464638,0.00036741368,0.0077039,0.06287618,0.0011176025,0.00046678213,0.0016710596,0.006083045,0.00059428596,0.45534846,0.46192583,0.0002990039],"about_ca_topic_score_codex":0.0032187153,"about_ca_topic_score_gemma":0.0021249016,"teacher_disagreement_score":0.5745443,"about_ca_system_score_codex":0.007885014,"about_ca_system_score_gemma":0.025765397,"threshold_uncertainty_score":0.70851547},"labels":[],"label_agreement":null},{"id":"W3084315367","doi":"10.1186/s13023-020-01454-0","title":"Further evidence for POMK as candidate gene for WWS with meningoencephalocele","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Congenital muscular dystrophy; Genetics; Phenotype; Biology; Muscular dystrophy; Exome sequencing; Nonsense mutation; Dystroglycan; Disease gene identification; Compound heterozygosity; Bioinformatics; Gene; Missense mutation; Extracellular matrix","score_opus":0.020491360602111566,"score_gpt":0.28275223419936335,"score_spread":0.2622608735972518,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3084315367","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9947568,0.0014061582,0.0005911216,0.0004050991,0.000060182407,0.000019176217,0.00016819169,0.00003008855,0.0025632135],"genre_scores_gemma":[0.99830174,0.00041436855,0.00042825713,0.000115546536,0.00014376255,0.000008795687,0.0001830025,0.000006718236,0.00039783798],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.9997851,0.000029935765,0.000031169355,0.000054886397,0.00004671824,0.000052090832],"domain_scores_gemma":[0.9990128,0.0004430281,0.00021491777,0.00006395901,0.000090171015,0.00017506568],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00030917113,0.0007987958,0.00032137192,0.0013916058,0.00065881864,0.00030447045,0.0005559887,0.0011942402,0.007284942],"category_scores_gemma":[0.0017211599,0.0001746204,0.0005097922,0.00055819924,0.00087358156,0.0003894158,0.0004840036,0.0005736636,0.0008162938],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0016260975,0.00018939667,0.36211696,0.0003688579,0.00018075701,0.5884294,0.0005334954,0.00022177384,0.034810275,0.0014187023,0.0009738281,0.009130475],"study_design_scores_gemma":[0.000119597615,0.00037249416,0.17976564,0.00009645913,0.00026037038,0.80156344,0.0003374717,0.0010754202,0.011586235,0.0011596095,0.003639533,0.000023765406],"about_ca_topic_score_codex":0.0005213751,"about_ca_topic_score_gemma":0.00027603627,"teacher_disagreement_score":0.007284942,"about_ca_system_score_codex":0.00025831876,"about_ca_system_score_gemma":0.00034348055,"threshold_uncertainty_score":0.024370551},"labels":[],"label_agreement":null},{"id":"W3085539772","doi":"10.1186/s13023-020-01521-6","title":"Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Alberta Children's Hospital; Alberta Bone and Joint Health Institute; University of Calgary","funders":"","keywords":"Bone mineral; Quantitative computed tomography; Medicine; Tibia; Osteoporosis; Bone remodeling; Cortical bone; Densitometry; Bone density; Radiology; Orthopedic surgery; Nuclear medicine; Internal medicine; Surgery; Pathology","score_opus":0.06530093899211922,"score_gpt":0.34417893634413826,"score_spread":0.278877997352019,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3085539772","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99947613,0.00013570825,0.000045700817,0.000007459628,0.0000015975631,0.000008108562,0.00021223354,0.0000010785834,0.00011197881],"genre_scores_gemma":[0.9994654,0.00008169355,0.00005285565,0.0000145587765,0.0000037541206,0.000010643569,0.00031213948,0.000001016711,0.000057945923],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9993492,0.00015990902,0.00009532517,0.00018933699,0.00012642598,0.00007986881],"domain_scores_gemma":[0.99851876,0.00026323923,0.0007034684,0.000114297116,0.00014305423,0.00025709425],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009872076,0.00036678129,0.00060610025,0.0009098042,0.00057417154,0.0006388485,0.00045946552,0.0006209104,0.0013209525],"category_scores_gemma":[0.0017057298,0.00043333624,0.00048331343,0.0011582137,0.00041617977,0.0006139931,0.0006152982,0.0005473387,0.00026222056],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000047091624,0.00002526262,0.9995584,0.0000052256405,0.000023170169,0.00005594984,0.000045737193,0.000006297731,0.00006708534,0.000003951086,0.000012638762,0.00014913683],"study_design_scores_gemma":[0.000004973277,0.00015769652,0.99917066,0.000004666262,0.000022836572,0.00036132414,0.00017845498,0.00003451941,0.000015545425,0.0000058688447,0.000041895193,0.0000015780605],"about_ca_topic_score_codex":0.004567486,"about_ca_topic_score_gemma":0.0049929353,"teacher_disagreement_score":0.004567486,"about_ca_system_score_codex":0.00029160184,"about_ca_system_score_gemma":0.0002802091,"threshold_uncertainty_score":0.009081781},"labels":[],"label_agreement":null},{"id":"W3091208982","doi":"10.1186/s13023-020-01545-y","title":"Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Centre Hospitalier Universitaire de Sherbrooke; McGill University Health Centre; Montreal Children's Hospital","funders":"BioMarin Pharmaceutical","keywords":"Enzyme replacement therapy; Medicine; Observational study; Pediatrics; Mucopolysaccharidosis; Internal medicine; Mucopolysaccharidosis type II; Founder effect; Population; Medical history; Medical record; Disease; Genotype; Genetics; Biology; Gene","score_opus":0.06232647760084827,"score_gpt":0.32047786460142935,"score_spread":0.2581513870005811,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3091208982","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9957568,0.00037125978,0.00007053003,0.000081614504,0.0000071866366,0.000050176863,0.002729669,0.0000062479144,0.00092634285],"genre_scores_gemma":[0.9974535,0.00018312655,0.00008276302,0.000105717,0.000007688739,0.00003004808,0.0018774098,0.0000026081375,0.00025704145],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99931896,0.00006170596,0.000051586674,0.00020083254,0.00018091977,0.00018596626],"domain_scores_gemma":[0.99820673,0.00013377392,0.00047614868,0.00007067781,0.00063982623,0.0004728692],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00054777524,0.0005872379,0.00055318023,0.0012139283,0.002182411,0.0010475013,0.0009069364,0.0007625246,0.0016446969],"category_scores_gemma":[0.001437136,0.00031412096,0.00047358108,0.0028413704,0.0006789445,0.0005680505,0.00056936627,0.0007239674,0.00028335123],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000059370348,0.00002836105,0.99876344,0.000006738576,0.00002735659,0.00013714214,0.00014279361,0.000020461408,0.00012217733,0.0000113272035,0.00022155065,0.0004593003],"study_design_scores_gemma":[0.00001124627,0.000057708523,0.9987167,0.000012914919,0.000023301145,0.00019582864,0.0004637346,0.00011898389,0.000020928826,0.0000071197032,0.00036455994,0.0000070000574],"about_ca_topic_score_codex":0.8870348,"about_ca_topic_score_gemma":0.89120483,"teacher_disagreement_score":0.112965226,"about_ca_system_score_codex":0.008407736,"about_ca_system_score_gemma":0.0065614013,"threshold_uncertainty_score":0.22726095},"labels":[],"label_agreement":null},{"id":"W3098931266","doi":"10.1186/s13023-020-01600-8","title":"Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Coenzyme Q10 studies and effects","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"National Eye Institute; National Cancer Institute; National Institutes of Health; Foundation Fighting Blindness; Heed Ophthalmic Foundation; Crowley Family Foundation; National Institute on Aging; Research to Prevent Blindness","keywords":"Compound heterozygosity; Missense mutation; Genetics; Exome sequencing; Allele; Biology; Locus (genetics); Medicine; Gene; Mutation","score_opus":0.016841080199966205,"score_gpt":0.260525593841681,"score_spread":0.24368451364171478,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3098931266","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9972819,0.00040613068,0.0010294192,0.000112923866,0.000033416607,0.000035447978,0.00023224896,0.00004175224,0.00082686986],"genre_scores_gemma":[0.99878997,0.00009560559,0.00052083074,0.0000558724,0.000040550345,0.000009206351,0.00015606746,0.000014416952,0.00031742107],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.99948007,0.00004566701,0.000056692603,0.00021062352,0.00011235739,0.00009462984],"domain_scores_gemma":[0.9994413,0.0001829153,0.00016702713,0.000028441074,0.000053757463,0.000126573],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002655891,0.0020486368,0.0005818548,0.0011163418,0.00073520106,0.000452878,0.00053277647,0.001473099,0.0025425474],"category_scores_gemma":[0.0010932945,0.00030404402,0.00047097952,0.0007422581,0.00083265454,0.00022847553,0.0007208817,0.0006101025,0.00038344198],"study_design_candidate":"case_report","study_design_consensus":"case_report","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0005090214,0.00014408704,0.082899585,0.00011569143,0.00015860901,0.85116833,0.0006915571,0.00028328662,0.058408666,0.00050109014,0.00079492404,0.0043252404],"study_design_scores_gemma":[0.000118629876,0.00026040064,0.09608936,0.000031352087,0.00014172556,0.8888902,0.0001808631,0.0007032266,0.011618515,0.0002844703,0.0016450011,0.000036218877],"about_ca_topic_score_codex":0.0013723086,"about_ca_topic_score_gemma":0.0015228862,"teacher_disagreement_score":0.0025425474,"about_ca_system_score_codex":0.0004291334,"about_ca_system_score_gemma":0.000422716,"threshold_uncertainty_score":0.008505702},"labels":[],"label_agreement":null},{"id":"W3105177395","doi":"10.1186/s13023-020-01597-0","title":"The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Chungnam National University","keywords":"Glucocerebrosidase; Founder effect; Haplotype; Proband; Mutation; Internal medicine; Genetics; Medicine; Disease; Genotype; Gastroenterology; Biology; Gene","score_opus":0.008522955232539455,"score_gpt":0.24428733238746075,"score_spread":0.2357643771549213,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3105177395","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9997371,0.00010426834,0.00003122754,0.000009626748,0.0000015512885,0.000003907176,0.00003504784,0.0000017474089,0.000075570184],"genre_scores_gemma":[0.9996939,0.00009974814,0.000071664545,0.000017343102,0.0000028281881,0.0000026852492,0.0000579264,0.0000019911279,0.000051971558],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9998596,0.000022126975,0.000027372615,0.000047242265,0.000018300187,0.00002521318],"domain_scores_gemma":[0.9997172,0.000052727628,0.00011202878,0.000023331295,0.000024711879,0.00007002664],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00023260209,0.00054291514,0.0002874876,0.000668944,0.00039287985,0.00027930757,0.00021617253,0.00036226306,0.0014856799],"category_scores_gemma":[0.0006978272,0.0003026391,0.00024087446,0.0006097415,0.0002926295,0.00028025024,0.00030678252,0.00021548974,0.00024988162],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00053187425,0.00007640525,0.9723901,0.00004101302,0.00007387267,0.011404681,0.00044425967,0.00007656266,0.008684399,0.00004110939,0.00013782106,0.0060979286],"study_design_scores_gemma":[0.00010200924,0.00040276506,0.9559643,0.000031983887,0.00013071726,0.040587418,0.00061364897,0.00030063323,0.0012130782,0.00009144834,0.0005437852,0.00001817692],"about_ca_topic_score_codex":0.003262127,"about_ca_topic_score_gemma":0.0034313728,"teacher_disagreement_score":0.003262127,"about_ca_system_score_codex":0.00026604504,"about_ca_system_score_gemma":0.00021039,"threshold_uncertainty_score":0.0064862967},"labels":[],"label_agreement":null},{"id":"W3105990761","doi":"10.1186/s13023-020-01612-4","title":"Gut microbiome signature of Viliuisk encephalomyelitis in Yakuts includes an increase in microbes linked to lean body mass and eating behaviour","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Gut microbiota and health","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Ministry of Science and Higher Education of the Russian Federation; Russian Science Foundation; Ministry of Education and Science of the Russian Federation","keywords":"Microbiome; Biology; Population; Medicine; Genetics; Environmental health","score_opus":0.008242723912427877,"score_gpt":0.2600139971547764,"score_spread":0.25177127324234855,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3105990761","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9990096,0.0002843726,0.00008968985,0.000028646456,0.000008154995,0.0000050598633,0.00029602548,0.0000042129195,0.00027424685],"genre_scores_gemma":[0.99890196,0.00019794975,0.00016922095,0.00003739749,0.0000060910097,0.000008576563,0.00042416216,0.0000034374386,0.00025129758],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9998878,0.000015463118,0.000009871557,0.000037140253,0.000013321781,0.000036362584],"domain_scores_gemma":[0.99988043,0.000013944823,0.000041675805,0.0000075910452,0.000020941725,0.00003531701],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00013828467,0.00037300054,0.00042273386,0.00054043403,0.0008431516,0.00055072946,0.000117622934,0.00032466513,0.0015262128],"category_scores_gemma":[0.00030494775,0.00017739009,0.00034182757,0.0005027681,0.0003689971,0.00019495102,0.00056305487,0.0003463665,0.00016227171],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0007058449,0.00006888216,0.9556643,0.000101046884,0.00013275321,0.0011058891,0.0008261128,0.000105250845,0.036510333,0.00004704973,0.0002426232,0.0044899173],"study_design_scores_gemma":[0.0000041393055,0.000099292854,0.9971002,0.000019734684,0.000038332753,0.0007592626,0.00091876555,0.00008610512,0.0005966595,0.000032813175,0.00033959822,0.000005024884],"about_ca_topic_score_codex":0.007629353,"about_ca_topic_score_gemma":0.00931622,"teacher_disagreement_score":0.007629353,"about_ca_system_score_codex":0.000322994,"about_ca_system_score_gemma":0.00030557782,"threshold_uncertainty_score":0.015169919},"labels":[],"label_agreement":null},{"id":"W3109329750","doi":"10.1186/s13023-020-01617-z","title":"Urine creatine metabolite panel as a screening test in neurodevelopmental disorders","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Muscle metabolism and nutrition","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; University of Alberta","funders":"Hospital for Sick Children","keywords":"Creatine; Metabolite; Urine; Medicine; Internal medicine; Creatinine; Endocrinology","score_opus":0.012927224393586935,"score_gpt":0.23672219536638237,"score_spread":0.22379497097279544,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3109329750","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.98899335,0.0041650436,0.0016079551,0.00039571687,0.000057725705,0.00007203564,0.00070737774,0.000102803024,0.0038979442],"genre_scores_gemma":[0.9973755,0.00055664126,0.0015968219,0.000085879714,0.000016540878,0.000012293052,0.00020582914,0.0000073016417,0.00014317922],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9982498,0.00051821384,0.00022269745,0.00016838645,0.000652103,0.00018879569],"domain_scores_gemma":[0.99503917,0.0019240656,0.0012151625,0.00013648775,0.0011965157,0.0004886209],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0020740791,0.0004586796,0.0004025568,0.0023900091,0.0003967595,0.00073076447,0.0005864509,0.00044183715,0.0010243558],"category_scores_gemma":[0.008697477,0.00020287685,0.00023152301,0.001161234,0.00040419606,0.00042075268,0.00047190048,0.00044850944,0.00027252617],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00010902257,0.00003061312,0.98835737,0.00003812586,0.000022396394,0.0007750317,0.000061610386,0.0001250063,0.0009558629,0.00002814817,0.00042701123,0.009069819],"study_design_scores_gemma":[0.000015343929,0.0003437323,0.9835239,0.00012511657,0.00010022928,0.0063094264,0.0002832598,0.0025972247,0.005054304,0.00008224406,0.0015484839,0.000016705246],"about_ca_topic_score_codex":0.014865945,"about_ca_topic_score_gemma":0.022791896,"teacher_disagreement_score":0.014865945,"about_ca_system_score_codex":0.00089548895,"about_ca_system_score_gemma":0.0013100111,"threshold_uncertainty_score":0.029558837},"labels":[],"label_agreement":null},{"id":"W3111161654","doi":"10.1186/s13023-020-01669-1","title":"Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Advanced Proteomics Techniques and Applications","field":"Chemistry","cited_by":35,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"European Regional Development Fund; Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen; Bundesministerium für Bildung und Forschung","keywords":"Human genetics; Etiology; Human skin; Medicine; Biology; Bioinformatics; Pathology; Genetics; Gene","score_opus":0.008247700369244234,"score_gpt":0.26308997987769056,"score_spread":0.25484227950844635,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3111161654","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.98323613,0.00082372694,0.011461188,0.000052484775,0.000010303197,0.00005760797,0.0029188995,0.0001704735,0.0012691733],"genre_scores_gemma":[0.9647852,0.0013295616,0.024407784,0.00008821709,0.0000111854215,0.000118575226,0.0076303245,0.00006416198,0.0015649355],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.9998592,0.000021733995,0.00001407298,0.00004553358,0.000041076375,0.00001835853],"domain_scores_gemma":[0.9999007,0.000026168178,0.000023153518,0.000016165903,0.000016111602,0.000017741144],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00019196705,0.0005261816,0.00026596594,0.0005431929,0.00019525219,0.0003476325,0.00014703516,0.00022667932,0.0012020584],"category_scores_gemma":[0.00017852307,0.00011015163,0.00032403215,0.00042586224,0.00010111499,0.00013305247,0.00023338407,0.00017872317,0.00071498065],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00007413447,0.000016008105,0.0012523144,0.00004185806,0.000009012834,0.00008536097,0.000008618439,0.00010115948,0.9963905,0.000020183485,0.000023503142,0.0019773226],"study_design_scores_gemma":[0.000011312112,0.00030171662,0.03632518,0.00001906784,0.00008233981,0.0020613929,0.000056759145,0.0027322082,0.9544739,0.00015491396,0.0037694736,0.000011642128],"about_ca_topic_score_codex":0.00024126246,"about_ca_topic_score_gemma":0.000460517,"teacher_disagreement_score":0.0012020584,"about_ca_system_score_codex":0.0001189022,"about_ca_system_score_gemma":0.00015693058,"threshold_uncertainty_score":0.0040212274},"labels":[],"label_agreement":null},{"id":"W3116551151","doi":"10.1186/s13023-020-01621-3","title":"French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides)","year":2020,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Vasculitis and related conditions","field":"Medicine","cited_by":74,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Mount Sinai Hospital","funders":"","keywords":"Microscopic polyangiitis; Medicine; Polyarteritis nodosa; Granulomatosis with polyangiitis; Eosinophilic; Vasculitis; Disease; Systemic vasculitis; Necrotizing Vasculitis; Anti-neutrophil cytoplasmic antibody; Dermatology; Intensive care medicine; Pediatrics; Internal medicine; Pathology","score_opus":0.030821332552807792,"score_gpt":0.302014701269323,"score_spread":0.2711933687165152,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3116551151","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0044719176,0.41148123,0.020991955,0.33075204,0.027141856,0.002411325,0.008029146,0.0016997054,0.19302085],"genre_scores_gemma":[0.058602896,0.334276,0.2211049,0.17940722,0.012267789,0.0074830395,0.020861913,0.000895013,0.16510129],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.99402,0.0025800732,0.0008549816,0.00024985938,0.0016229342,0.0006722594],"domain_scores_gemma":[0.9924551,0.0012674888,0.00093998876,0.00022618208,0.004411929,0.0006992919],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0059404694,0.0012909754,0.0011827586,0.003712951,0.0014435084,0.002162182,0.002547268,0.006599709,0.017148927],"category_scores_gemma":[0.009801252,0.00039368757,0.0032056097,0.0023755832,0.0011044276,0.0012757059,0.0012477986,0.0052286256,0.007615139],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00013118568,0.00022645916,0.0023981014,0.0020104628,0.0001168002,0.0010026449,0.00044410408,0.00055249827,0.00068801246,0.008209391,0.7465468,0.23767367],"study_design_scores_gemma":[0.000093461436,0.00007356764,0.004327325,0.0032328453,0.00008961814,0.0013207253,0.00020380202,0.00010233024,0.0001637311,0.0012481423,0.9891117,0.000032856395],"about_ca_topic_score_codex":0.07248815,"about_ca_topic_score_gemma":0.05665166,"teacher_disagreement_score":0.07248815,"about_ca_system_score_codex":0.00486358,"about_ca_system_score_gemma":0.0116296,"threshold_uncertainty_score":0.14413244},"labels":[],"label_agreement":null},{"id":"W3118297181","doi":"10.1186/s13023-020-01648-6","title":"Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research; Hospital for Sick Children; McLaughlin Centre, University of Toronto; University of Toronto; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Simons Foundation Autism Research Initiative; University of Louisville; Simons Foundation","keywords":"Autism spectrum disorder; Phenotype; Copy-number variation; Genetics; Gene; Missense mutation; Human genetics; Biology; Gene duplication; Loss function; Autism; Intellectual disability; Genetic heterogeneity; Genome; Medicine","score_opus":0.008551604206417363,"score_gpt":0.21718021816086538,"score_spread":0.208628613954448,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3118297181","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9984863,0.00014450437,0.0005567544,0.000026977294,0.000004124948,0.000006012116,0.00037610668,0.00002654254,0.00037267865],"genre_scores_gemma":[0.99880123,0.00007388368,0.00065132213,0.000018464405,0.00000851052,0.000008399281,0.00029541555,0.000012479757,0.00013042359],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99967575,0.000055083005,0.000033908607,0.00011981472,0.000076788405,0.000038631304],"domain_scores_gemma":[0.9990701,0.00033171198,0.0003804283,0.000052532083,0.000065003405,0.000100251826],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00026653428,0.00071271596,0.0002997772,0.0011586004,0.00018840776,0.0002784963,0.00036698187,0.0004970955,0.003218951],"category_scores_gemma":[0.0012299224,0.000121899844,0.00027197847,0.00052023306,0.00035769504,0.00015848607,0.00037982207,0.00030820994,0.00034272135],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0008157845,0.000112282214,0.63519925,0.00013519998,0.0002918262,0.010649471,0.0002742196,0.0007500716,0.33659568,0.0003827015,0.00040367822,0.014389946],"study_design_scores_gemma":[0.00002109657,0.00020830745,0.96657604,0.000014951749,0.00016556244,0.01715476,0.000124256,0.0008017281,0.014064434,0.0002215561,0.0006323445,0.000014924112],"about_ca_topic_score_codex":0.0008242068,"about_ca_topic_score_gemma":0.0010630449,"teacher_disagreement_score":0.003218951,"about_ca_system_score_codex":0.00014010862,"about_ca_system_score_gemma":0.0001627105,"threshold_uncertainty_score":0.010768473},"labels":[],"label_agreement":null},{"id":"W3119058518","doi":"10.1186/s13023-020-01640-0","title":"Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelines","year":2021,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Douglas College","funders":"Debra International","keywords":"Psychosocial; Medicine; Human sexuality; Epidermolysis bullosa; Population; Reproductive health; Nursing; Intervention (counseling); Health care; Family medicine; Psychiatry; Environmental health; Dermatology","score_opus":0.07476911188089905,"score_gpt":0.4569249588288869,"score_spread":0.3821558469479879,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3119058518","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00046052597,0.93875986,0.004281036,0.035520155,0.004290901,0.001190032,0.000851896,0.00023348654,0.014412124],"genre_scores_gemma":[0.002646194,0.9618062,0.018568719,0.01027446,0.000826927,0.0011101253,0.0012718835,0.000028321601,0.003467197],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.99722594,0.00093263906,0.0006201102,0.00016888676,0.00091648963,0.00013602372],"domain_scores_gemma":[0.99171716,0.003755261,0.0009370066,0.00014560691,0.0029452355,0.0004997213],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00544928,0.0011187557,0.002055399,0.0037052068,0.0006810653,0.0014951704,0.0034019481,0.004518821,0.006608621],"category_scores_gemma":[0.013676813,0.00050946185,0.0019029069,0.002624748,0.0005649576,0.0015926061,0.0015211876,0.0037334529,0.0032003317],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00005049448,0.00014472727,0.00026507574,0.050489664,0.00017009446,0.00033670946,0.00026578945,0.00054259686,0.000362837,0.004042377,0.20474014,0.7385894],"study_design_scores_gemma":[0.00013373524,0.0000912083,0.0015181876,0.14616808,0.00044200532,0.001007931,0.00026788466,0.0002733895,0.00019746041,0.0052264403,0.8446233,0.00005039917],"about_ca_topic_score_codex":0.00798362,"about_ca_topic_score_gemma":0.014957402,"teacher_disagreement_score":0.00798362,"about_ca_system_score_codex":0.0020316434,"about_ca_system_score_gemma":0.0095970845,"threshold_uncertainty_score":0.028818905},"labels":[],"label_agreement":null},{"id":"W3119435109","doi":"10.1186/s13023-020-01579-2","title":"Predictors of mortality in patients with hereditary hemorrhagic telangiectasia","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":26,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"St. Michael's Hospital; University of Toronto","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; Li Ka Shing Foundation","keywords":"Medicine; ACVRL1; Telangiectasia; Arteriovenous malformation; Internal medicine; Mortality rate; Population; Proportional hazards model; Pediatrics; Surgery; Endoglin","score_opus":0.0069318766632453154,"score_gpt":0.2297560715325248,"score_spread":0.22282419486927948,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3119435109","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9993357,0.00027670484,0.000046823126,0.000050805527,0.0000034383606,0.0000022421023,0.00017427174,0.000004230462,0.00010566175],"genre_scores_gemma":[0.999653,0.00006260214,0.000030296362,0.000008077601,0.0000070914157,0.0000023834616,0.00020176504,6.2169784e-7,0.000034164914],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9997627,0.00008217613,0.000025057334,0.00004856643,0.000037954596,0.0000435851],"domain_scores_gemma":[0.9988825,0.00029014476,0.0004910521,0.000048535934,0.00008518419,0.00020268024],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00043456545,0.00022674007,0.00025602352,0.0004956347,0.00023661631,0.00038914118,0.00024961325,0.00036609644,0.0008286724],"category_scores_gemma":[0.0018650929,0.00016877084,0.00035208868,0.0006307425,0.00018627389,0.00023228009,0.00029533333,0.0006409489,0.00009661081],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00006677365,0.0000067596434,0.9994191,0.0000026351552,0.000016977447,0.000039776587,0.000010181431,0.000034541463,0.000038901213,0.0000030588487,0.000038340495,0.00032308252],"study_design_scores_gemma":[0.000005673506,0.000058506135,0.9992918,0.0000032593225,0.000018506025,0.00020879667,0.000039398205,0.0002958421,0.000029505554,0.000017430522,0.000029397279,0.0000017498301],"about_ca_topic_score_codex":0.0027648928,"about_ca_topic_score_gemma":0.0028739776,"teacher_disagreement_score":0.0027648928,"about_ca_system_score_codex":0.00022113346,"about_ca_system_score_gemma":0.00020822111,"threshold_uncertainty_score":0.005497575},"labels":[],"label_agreement":null},{"id":"W3120185015","doi":"10.1186/s13023-020-01624-0","title":"Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Newborn Screening Ontario; Children's Hospital of Eastern Ontario; Ottawa Hospital; Bruyère; University of Ottawa","funders":"Canadian Institutes of Health Research","keywords":"Focus group; Credibility; Stakeholder; Medicine; Feeling; Nonprobability sampling; Qualitative research; Family medicine; Health care; Debriefing; Psychology; Nursing; Medical education; Public relations; Social psychology","score_opus":0.08617083742353884,"score_gpt":0.40741489964827843,"score_spread":0.32124406222473956,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3120185015","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":"methods","domain_gemma":"evaluation","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":"evaluation","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.17042679,0.016248535,0.022968644,0.76133776,0.0020761217,0.0003601999,0.000063745625,0.00007445734,0.026443888],"genre_scores_gemma":[0.9360306,0.0047843195,0.008262511,0.048917342,0.00071493635,0.0003481035,0.000028757006,0.00005932139,0.00085413037],"study_design_codex":"qualitative","study_design_gemma":"qualitative","domain_scores_codex":[0.2818141,0.66198653,0.0133767845,0.007145251,0.02654924,0.009128101],"domain_scores_gemma":[0.23018786,0.69796795,0.021045808,0.01222293,0.025252609,0.01332283],"candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.47912452,0.0013732754,0.0021621357,0.004608592,0.02845025,0.031876024,0.0067970394,0.020964244,0.0020763741],"category_scores_gemma":[0.38950503,0.0019491693,0.002082086,0.004119285,0.09552842,0.028660664,0.027565435,0.02948995,0.00042785695],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00013095635,0.0000767856,0.00265042,0.00096994155,0.00010186002,0.0019435709,0.9206422,0.00026222746,0.0009411546,0.053094476,0.0043235575,0.014862833],"study_design_scores_gemma":[0.00009245642,0.00019352946,0.0010686896,0.0034950324,0.000102604565,0.0027537905,0.8556517,0.0008782928,0.0010225169,0.062948406,0.07164262,0.0001503264],"about_ca_topic_score_codex":0.0046471674,"about_ca_topic_score_gemma":0.0037998161,"teacher_disagreement_score":0.52087545,"about_ca_system_score_codex":0.022032598,"about_ca_system_score_gemma":0.043581773,"threshold_uncertainty_score":0.6423322},"labels":[],"label_agreement":null},{"id":"W3126273064","doi":"10.1186/s13023-021-01709-4","title":"Suppressed prefrontal cortex oscillations associate with clinical pain in fibrodysplasia ossificans progressiva","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Heterotopic Ossification and Related Conditions","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"National Institutes of Health; International Fibrodysplasia Ossificans Progressiva Association; National Institute of Arthritis and Musculoskeletal and Skin Diseases; MAYDAY Fund","keywords":"Fibrodysplasia ossificans progressiva; Heterotopic ossification; Prefrontal cortex; Medicine; Dorsolateral prefrontal cortex; Physical medicine and rehabilitation; Neuroscience; Internal medicine; Psychiatry; Psychology; Cognition; Surgery","score_opus":0.01978332649937978,"score_gpt":0.31163164462152815,"score_spread":0.29184831812214834,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3126273064","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9991486,0.0003144645,0.00024247225,0.00003083759,0.0000021192695,0.00000675476,0.000071393115,0.0000040717946,0.00017927766],"genre_scores_gemma":[0.999534,0.00012651944,0.00017819279,0.0000147636665,0.0000049533646,0.000006429134,0.00007313275,8.6944e-7,0.00006115321],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9999243,0.000015098985,0.0000075661605,0.00002287903,0.000015771355,0.000014498413],"domain_scores_gemma":[0.999524,0.00008613689,0.00030087534,0.000013527703,0.0000351639,0.000040314993],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00024243501,0.00023030023,0.00017942324,0.00042637304,0.0001235647,0.00019278385,0.00014448026,0.00020598344,0.001180087],"category_scores_gemma":[0.0008992073,0.000076622775,0.00012824863,0.00021370836,0.00023727596,0.00011470684,0.00015848623,0.00021586091,0.00009634134],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0018735152,0.0001780351,0.91173375,0.00013770153,0.00016864901,0.0026559618,0.0003715687,0.00028666612,0.06277808,0.000070960254,0.0002930995,0.019451935],"study_design_scores_gemma":[0.0000130873095,0.000116801755,0.99753916,0.000006861862,0.000019690458,0.0015231723,0.000068168476,0.00017382993,0.00043180256,0.000046340083,0.000058979087,0.0000021106039],"about_ca_topic_score_codex":0.0010544619,"about_ca_topic_score_gemma":0.0015653425,"teacher_disagreement_score":0.001180087,"about_ca_system_score_codex":0.00014197598,"about_ca_system_score_gemma":0.00008777678,"threshold_uncertainty_score":0.0039477944},"labels":[],"label_agreement":null},{"id":"W3129740247","doi":"10.1186/s13023-020-01620-4","title":"French recommendations for the management of Behçet’s disease","year":2021,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Ocular Diseases and Behçet’s Syndrome","field":"Medicine","cited_by":62,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Medicine; Vasculitis; Systemic vasculitis; Behcet's disease; Disease; Behcet disease; Intensive care medicine; Systemic disease; Thrombosis; Vascular disease; Differential diagnosis; Dermatology; Venous thrombosis; Treatment modality; Pathology; Surgery","score_opus":0.054780429445482275,"score_gpt":0.35773481782606337,"score_spread":0.3029543883805811,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3129740247","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0002305489,0.96209806,0.0008935217,0.018990017,0.0040507745,0.0001405386,0.000809776,0.00012013649,0.012666702],"genre_scores_gemma":[0.0033748315,0.96110225,0.006386295,0.015228614,0.0023294643,0.00031452795,0.0025931871,0.0000390038,0.008631892],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.998517,0.00047291242,0.0003585141,0.00009855763,0.00043415264,0.000118921416],"domain_scores_gemma":[0.9983754,0.00046870415,0.00027836065,0.00004764887,0.00072790094,0.000101956466],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0019343558,0.0010336816,0.0012311185,0.003961049,0.00055777957,0.0011530849,0.0015123255,0.0029987067,0.012582341],"category_scores_gemma":[0.0040890463,0.0002349561,0.0017027905,0.002120631,0.00052850734,0.0012702383,0.00089081185,0.0026297134,0.0070931534],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00009296859,0.000060068556,0.00037467986,0.0130198095,0.00013594201,0.00056885864,0.00011674727,0.00026505374,0.00057771005,0.0052966103,0.4053689,0.57412255],"study_design_scores_gemma":[0.000030776853,0.000021490114,0.0006504897,0.008575028,0.00008797697,0.0010740361,0.000032822307,0.00003052896,0.00008756305,0.00090426346,0.98849267,0.00001223466],"about_ca_topic_score_codex":0.0067578633,"about_ca_topic_score_gemma":0.008272146,"teacher_disagreement_score":0.012582341,"about_ca_system_score_codex":0.0018893741,"about_ca_system_score_gemma":0.003429889,"threshold_uncertainty_score":0.042092085},"labels":[],"label_agreement":null},{"id":"W3129871601","doi":"10.1186/s13023-021-01717-4","title":"Clinical characteristics and burden of illness in patients with hereditary angioedema: findings from a multinational patient survey","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","field":"Medicine","cited_by":91,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Shire Human Genetic Therapies","keywords":"Hereditary angioedema; Medicine; Quality of life (healthcare); Angioedema; Anxiety; Disease; Pediatrics; Internal medicine; Psychiatry","score_opus":0.013819552672255538,"score_gpt":0.2652898692929696,"score_spread":0.25147031662071406,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3129871601","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.998623,0.00009828434,0.000027966378,0.000080096026,0.0000031134948,0.000013483207,0.00090235437,0.000002335185,0.00024945234],"genre_scores_gemma":[0.999044,0.00007033295,0.00005093656,0.000047355006,0.000005391424,0.00001959553,0.00070685806,9.61683e-7,0.00005450049],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99922323,0.00030052647,0.00012796112,0.00010528164,0.00015437117,0.00008859095],"domain_scores_gemma":[0.9973531,0.00036758246,0.0015638883,0.000109264016,0.00018654055,0.0004196166],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0013134199,0.00019635819,0.0003051883,0.00078126445,0.00031103395,0.00053081376,0.00032041708,0.00037903283,0.0009473704],"category_scores_gemma":[0.0028668968,0.00017195824,0.00034782928,0.0013583603,0.00023177103,0.00052121334,0.0006637827,0.00048038058,0.00015311921],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000018258326,0.000017202385,0.9993987,0.0000048720703,0.00001415425,0.000021804764,0.000052713895,0.000017563565,0.000031735974,0.0000029994894,0.00007740021,0.0003426583],"study_design_scores_gemma":[0.0000024331962,0.00002744338,0.99965584,0.0000026701346,0.00000535969,0.00006978808,0.00011029579,0.00005709005,0.000007941282,0.0000028228694,0.000056865254,0.0000014127024],"about_ca_topic_score_codex":0.0061257384,"about_ca_topic_score_gemma":0.00787084,"teacher_disagreement_score":0.0061257384,"about_ca_system_score_codex":0.00041663426,"about_ca_system_score_gemma":0.00031832108,"threshold_uncertainty_score":0.012180209},"labels":[],"label_agreement":null},{"id":"W3130798282","doi":"10.1186/s13023-020-01656-6","title":"The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Sanofi Genzyme; Sanofi","keywords":"Medicine; Enzyme replacement therapy; Proportional hazards model; Risk assessment; Disease; Internal medicine; Framingham Risk Score; Pediatrics","score_opus":0.013505456942995857,"score_gpt":0.3173779618968373,"score_spread":0.30387250495384144,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3130798282","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9800718,0.0009147918,0.006577299,0.00019242123,0.000040251987,0.00036869678,0.0077191517,0.000101666694,0.004013768],"genre_scores_gemma":[0.97926235,0.0002458449,0.012676088,0.00005811638,0.00003553488,0.0003801113,0.006789639,0.000016444086,0.0005359125],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9986935,0.0003789877,0.0001860964,0.00016639658,0.00048435255,0.00009069692],"domain_scores_gemma":[0.99753016,0.00042088618,0.0013415881,0.00012043368,0.00036664214,0.00022036732],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0031193132,0.0005026559,0.00072228373,0.002530253,0.00021792974,0.00050650677,0.00063078577,0.0003446629,0.0015009892],"category_scores_gemma":[0.005185682,0.00012241318,0.0011239868,0.0016382795,0.00027620397,0.0002646849,0.00070349924,0.0004711434,0.00027706803],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0006494907,0.000043151453,0.9882377,0.000045748377,0.00018327347,0.000036746813,0.000028474324,0.0006425462,0.00017084561,0.00009345003,0.0010032875,0.008865342],"study_design_scores_gemma":[0.00014645683,0.00037638829,0.99403965,0.000037061247,0.00023562157,0.0005120682,0.00005328682,0.0032189975,0.00027381943,0.00019354753,0.0008908656,0.000022162005],"about_ca_topic_score_codex":0.0031095273,"about_ca_topic_score_gemma":0.0051339674,"teacher_disagreement_score":0.0031193132,"about_ca_system_score_codex":0.00056289765,"about_ca_system_score_gemma":0.00084652094,"threshold_uncertainty_score":0.016496718},"labels":[],"label_agreement":null},{"id":"W3137792553","doi":"10.1186/s13023-021-01682-y","title":"A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Shriners Hospitals for Children - Canada","funders":"","keywords":"Osteogenesis imperfecta; Human genetics; Outcome (game theory); Medicine; Biology; Genetics; Mathematics; Pathology","score_opus":0.03871491906568129,"score_gpt":0.36438030944534755,"score_spread":0.32566539037966624,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3137792553","genre_codex":"methods","genre_gemma":"methods","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"methods","genre_consensus":"methods","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.28099355,0.03701282,0.3964443,0.015759598,0.0028523384,0.14126197,0.04239257,0.00095437607,0.08232854],"genre_scores_gemma":[0.3901317,0.0056784167,0.43128362,0.0015807487,0.00031304857,0.14826351,0.020942051,0.00015259643,0.0016543474],"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.8985123,0.047067415,0.026770975,0.0025350323,0.023585621,0.001528589],"domain_scores_gemma":[0.8650981,0.0568252,0.021975968,0.00786695,0.046431053,0.0018026208],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.10897926,0.0013922701,0.0025808613,0.013679529,0.0020376465,0.002768546,0.0029996166,0.002213678,0.003790424],"category_scores_gemma":[0.12286061,0.00038005316,0.005627858,0.009008118,0.002007453,0.0029122033,0.0043776976,0.0031220228,0.00085279375],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.003377077,0.0020583188,0.17020428,0.035814784,0.0026879404,0.00039088065,0.00914115,0.0060772863,0.0052950527,0.03737212,0.03893657,0.6886446],"study_design_scores_gemma":[0.0017487406,0.010838589,0.6704613,0.038277876,0.0040284046,0.00215691,0.013508054,0.012926347,0.010896456,0.061306875,0.17318374,0.00066667737],"about_ca_topic_score_codex":0.0016652524,"about_ca_topic_score_gemma":0.0022490046,"teacher_disagreement_score":0.10897926,"about_ca_system_score_codex":0.006520905,"about_ca_system_score_gemma":0.013643001,"threshold_uncertainty_score":0.5763443},"labels":[],"label_agreement":null},{"id":"W3138259909","doi":"10.1186/s13023-021-01687-7","title":"Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders","year":2021,"lang":"en","type":"letter","venue":"Orphanet Journal of Rare Diseases","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; Canada Research Chairs; Muscular Dystrophy Canada; Canada Foundation for Innovation; Ultragenyx Pharmaceutical","keywords":"Data sharing; Disease; Business; Corporate governance; Genetic data; Rare disease; Public relations; Component (thermodynamics); Medicine; Knowledge management; Computer science; Political science; Finance; Alternative medicine; Pathology; Environmental health","score_opus":0.09474679467518646,"score_gpt":0.3413796408234724,"score_spread":0.24663284614828593,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3138259909","genre_codex":"commentary","genre_gemma":"other","domain_codex":null,"domain_gemma":"reproducibility","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":null,"domain_candidate":"reproducibility","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0023060893,0.00043151,0.005192171,0.9874265,0.0017985491,0.000058305453,0.000018711087,0.000058493475,0.0027096719],"genre_scores_gemma":[0.085660435,0.0012544129,0.014155738,0.88174057,0.010500701,0.00046624118,0.00006933253,0.00007261767,0.006079934],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9542876,0.026399842,0.0036321895,0.003374,0.009340346,0.0029659136],"domain_scores_gemma":[0.8652638,0.09643212,0.0085449135,0.00806526,0.01041191,0.011281949],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.03710164,0.00031658023,0.000604038,0.0006968696,0.0039441627,0.0061273705,0.0017198495,0.02279607,0.0033976214],"category_scores_gemma":[0.09231396,0.00054639025,0.0010452813,0.0007054389,0.0051020347,0.0077602495,0.00633064,0.0221956,0.0017863392],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00026857553,0.00021264298,0.013140927,0.000261721,0.00007803645,0.013680962,0.0041397763,0.0010148166,0.003527458,0.094645314,0.69094294,0.17808685],"study_design_scores_gemma":[0.0001964886,0.00026376866,0.0064623207,0.0005444274,0.000050180744,0.008505365,0.0028645543,0.0048969113,0.0018573786,0.10214216,0.87205285,0.00016349491],"about_ca_topic_score_codex":0.0017942965,"about_ca_topic_score_gemma":0.0023542563,"teacher_disagreement_score":0.9628984,"about_ca_system_score_codex":0.0047656414,"about_ca_system_score_gemma":0.00965323,"threshold_uncertainty_score":0.19621456},"labels":[],"label_agreement":null},{"id":"W3138499736","doi":"10.1186/s13023-021-01923-0","title":"Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Canadiana.org","funders":"National Human Genome Research Institute; Universitaire Ziekenhuizen Leuven, KU Leuven; Instituto de Salud Carlos III; National Institutes of Health; Institut National de la Santé et de la Recherche Médicale; European Commission","keywords":"Rare disease; Orphan drug; Disease; Reimbursement; Medicine; Government (linguistics); Marketing authorization; Essential medicines; Authorization; Business; Alternative medicine; Family medicine; Health care; Public health; Economic growth; Bioinformatics; Pathology","score_opus":0.01983560073219479,"score_gpt":0.28685504565009656,"score_spread":0.26701944491790175,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3138499736","genre_codex":"commentary","genre_gemma":"other","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0135356905,0.11334373,0.046549425,0.40916142,0.011809334,0.019220365,0.07259414,0.004663652,0.30912223],"genre_scores_gemma":[0.036282904,0.16698754,0.41345316,0.17080739,0.006595567,0.018039256,0.116621874,0.001020605,0.07019171],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9852009,0.0038771173,0.0044753524,0.0005299859,0.005020146,0.0008964945],"domain_scores_gemma":[0.92796284,0.020568063,0.011619979,0.0025132098,0.030704562,0.0066314265],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.022175873,0.0012023774,0.0016992424,0.013958795,0.002088809,0.0054167043,0.003424474,0.005810826,0.019167574],"category_scores_gemma":[0.044793684,0.00078641606,0.00257879,0.009426106,0.0013550074,0.0040507657,0.003351164,0.005552194,0.010656165],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00030989386,0.00049896754,0.0048688124,0.005571606,0.00010183025,0.00074989995,0.00027969945,0.00042671367,0.0023192123,0.00889209,0.63527703,0.3407043],"study_design_scores_gemma":[0.00016687735,0.00015827482,0.006730521,0.006497969,0.00019700459,0.0005046718,0.000242195,0.0002892912,0.0008620602,0.0029180828,0.98137146,0.00006165512],"about_ca_topic_score_codex":0.0075528896,"about_ca_topic_score_gemma":0.009517391,"teacher_disagreement_score":0.022175873,"about_ca_system_score_codex":0.0031110027,"about_ca_system_score_gemma":0.030270737,"threshold_uncertainty_score":0.117278636},"labels":[],"label_agreement":null},{"id":"W3139280509","doi":"10.1186/s13023-021-01777-6","title":"Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome","year":2021,"lang":"en","type":"erratum","venue":"Orphanet Journal of Rare Diseases","topic":"Radiomics and Machine Learning in Medical Imaging","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"Medical Research Council; National Institute for Health and Care Research; Ataxia UK; Wellcome Trust","keywords":"Human genetics; Data science; Computational biology; Computer science; Information retrieval; Bioinformatics; Medicine; Biology; Genetics","score_opus":0.021171445513083156,"score_gpt":0.33968825396447894,"score_spread":0.3185168084513958,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3139280509","genre_codex":"editorial","genre_gemma":"other","domain_codex":null,"domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":null,"domain_candidate":"methods","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00016226005,0.0035700211,0.013483715,0.20890558,0.7135955,0.0020516063,0.047995556,0.0032273498,0.0070083714],"genre_scores_gemma":[0.007163766,0.014975548,0.14029337,0.33535132,0.2513173,0.0286461,0.041076448,0.012209201,0.16896701],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9034896,0.036881067,0.029235495,0.0055960487,0.02266597,0.0021318195],"domain_scores_gemma":[0.4970617,0.2478475,0.03393845,0.030948674,0.18287872,0.0073249186],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.083271444,0.0038782067,0.0050266488,0.015862845,0.0038757627,0.010338066,0.0062641446,0.009081217,0.2080364],"category_scores_gemma":[0.6078105,0.0034817827,0.006143548,0.01451041,0.0042251726,0.0070357737,0.0067443666,0.016210025,0.09083751],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000046233396,0.0000044869294,0.000050432485,0.0014246656,0.000054802607,0.00003735788,0.000053037136,0.000039843784,0.000022800397,0.0007278569,0.99163014,0.0059082345],"study_design_scores_gemma":[0.00047888773,0.00002961399,0.0005447218,0.008735106,0.00024948956,0.00017441197,0.00012014467,0.00030284436,0.00015889131,0.0059908913,0.9831056,0.00010943418],"about_ca_topic_score_codex":0.013548249,"about_ca_topic_score_gemma":0.024325855,"teacher_disagreement_score":0.91672856,"about_ca_system_score_codex":0.006790588,"about_ca_system_score_gemma":0.0352923,"threshold_uncertainty_score":0.6959511},"labels":[],"label_agreement":null},{"id":"W3141901445","doi":"10.1186/s13023-021-01804-6","title":"Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation","year":2021,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Alberta","funders":"Alberta Innovates","keywords":"Context (archaeology); Genetic counseling; Developing country; Public health; Business; Service (business); Economic growth; Genetic testing; Health care; Medicine; Marketing; Geography; Nursing; Economics; Genetics; Biology","score_opus":0.03196178154566513,"score_gpt":0.369235938443271,"score_spread":0.33727415689760587,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3141901445","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0006868916,0.9169704,0.0006958762,0.0741424,0.001482215,0.00003165515,0.000043788,0.00002260109,0.005924138],"genre_scores_gemma":[0.007409042,0.9812056,0.0014293721,0.008165089,0.0006107481,0.00004478016,0.000048528553,0.000005185638,0.001081616],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9983524,0.0008033113,0.0001831312,0.00013297958,0.00032528353,0.00020285435],"domain_scores_gemma":[0.9973699,0.0014248264,0.00021022976,0.000042574124,0.0004929793,0.00045959494],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004247234,0.0005187031,0.0006019134,0.0013234825,0.00094504305,0.0026381689,0.0016609795,0.004324251,0.0032582919],"category_scores_gemma":[0.0057350737,0.00019890034,0.00040200207,0.0017686657,0.0016384302,0.0028996167,0.0018880401,0.004448823,0.0006992602],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000081545186,0.00013058375,0.0015552333,0.02282489,0.000080109014,0.0032832639,0.0021577186,0.0010570216,0.0007769517,0.07068073,0.12781985,0.7695522],"study_design_scores_gemma":[0.000020043379,0.00007660519,0.001810228,0.023867568,0.00006798432,0.00342515,0.0035696465,0.00025495983,0.00020932661,0.013922406,0.9527282,0.000047889273],"about_ca_topic_score_codex":0.0122910505,"about_ca_topic_score_gemma":0.018748434,"teacher_disagreement_score":0.0122910505,"about_ca_system_score_codex":0.0043422543,"about_ca_system_score_gemma":0.014622684,"threshold_uncertainty_score":0.031505406},"labels":[],"label_agreement":null},{"id":"W3154750300","doi":"10.1186/s13023-021-01727-2","title":"Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app","year":2021,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":116,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"BC Children's Hospital","funders":"Austrian Science Fund; Stichting Metakids","keywords":"Medicine; Psychological intervention; Intervention (counseling); Intellectual disability; MEDLINE; Clinical trial; Bioinformatics; Psychiatry; Pathology","score_opus":0.015552452319150823,"score_gpt":0.28261759634491784,"score_spread":0.26706514402576703,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3154750300","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0012494845,0.9686799,0.0009337284,0.008502282,0.0061679464,0.0020085133,0.0060780025,0.00019906368,0.006181125],"genre_scores_gemma":[0.0045093973,0.97193843,0.0037951788,0.007288731,0.0035547058,0.0020517823,0.0037773142,0.000043904674,0.003040524],"study_design_codex":"systematic_review","study_design_gemma":"not_applicable","domain_scores_codex":[0.9955361,0.0009705444,0.0018060373,0.00026222225,0.001215564,0.00020946673],"domain_scores_gemma":[0.96572155,0.020420237,0.0069698878,0.0005305069,0.0057804557,0.00057732465],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0065714796,0.0012862233,0.0043257414,0.024758097,0.0006526834,0.0034412812,0.0021763616,0.002248335,0.016320918],"category_scores_gemma":[0.022064786,0.0008835227,0.0029409162,0.015292268,0.000684563,0.0037863674,0.0023043172,0.0015426647,0.003233182],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00020280169,0.00003685904,0.0005496136,0.6397527,0.0008419741,0.00054034183,0.00035083288,0.00015668491,0.00086150086,0.0011463669,0.07928121,0.27627918],"study_design_scores_gemma":[0.00009057766,0.00014294618,0.0024368628,0.5477575,0.0033700801,0.0011221254,0.00021811173,0.00012905555,0.0003299025,0.0012774704,0.44307086,0.00005454882],"about_ca_topic_score_codex":0.0019348927,"about_ca_topic_score_gemma":0.006044685,"teacher_disagreement_score":0.024758097,"about_ca_system_score_codex":0.0029365933,"about_ca_system_score_gemma":0.0110383425,"threshold_uncertainty_score":0.054598868},"labels":[],"label_agreement":null},{"id":"W3155169104","doi":"10.1186/s13023-021-02054-2","title":"Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":8,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Montreal Neurological Institute and Hospital; Université Laval; McGill University; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Centre for Interdisciplinary Research in Rehabilitation; Université de Sherbrooke","funders":"Fonds de Recherche du Québec - Santé; Bundesministerium für Bildung und Forschung; Horizon 2020; Canadian Institutes of Health Research; European Commission; E-Rare","keywords":"Physical medicine and rehabilitation; Balance (ability); Spasticity; Medicine; Rehabilitation; Ataxia; Population; Physical therapy; Psychology; Psychiatry","score_opus":0.019521950191420515,"score_gpt":0.24957691971462037,"score_spread":0.23005496952319987,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3155169104","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9991134,0.0003677739,0.000039101735,0.00001600677,0.0000027029748,0.000006300219,0.0001144277,0.000001954779,0.00033821585],"genre_scores_gemma":[0.9993492,0.0001711648,0.000058120317,0.000012038854,0.0000026719745,0.00001036717,0.00020242928,5.8861804e-7,0.00019344215],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.999711,0.00005010722,0.00004464413,0.000069088965,0.00005736817,0.000067761066],"domain_scores_gemma":[0.9996505,0.000036003403,0.00013877024,0.000009114353,0.00009963495,0.0000660949],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00033864385,0.00041150098,0.00044952298,0.0013795977,0.00064484304,0.00045674478,0.00026568587,0.0003058754,0.0016264421],"category_scores_gemma":[0.00070764375,0.00007547768,0.00021026927,0.00070371624,0.00031175834,0.00027480134,0.00044916235,0.00014452725,0.00019532892],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000085895605,0.000043565244,0.9937022,0.00004282537,0.000027306642,0.0011094823,0.00052426726,0.000048417714,0.00055478,0.000028251581,0.00009457244,0.0037384867],"study_design_scores_gemma":[0.0000033134884,0.00019742259,0.9958334,0.000025546664,0.00001677543,0.0024007272,0.00095524156,0.000055684857,0.00007280629,0.00002898811,0.00040579282,0.000004220523],"about_ca_topic_score_codex":0.022349326,"about_ca_topic_score_gemma":0.030661164,"teacher_disagreement_score":0.9776507,"about_ca_system_score_codex":0.0006239286,"about_ca_system_score_gemma":0.0004858528,"threshold_uncertainty_score":0.04443848},"labels":[],"label_agreement":null},{"id":"W3156791357","doi":"10.1186/s13023-021-01810-8","title":"Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Fondation Maladies Rares; Rare Disease Foundation","keywords":"Medicine; Pediatrics; Physical therapy","score_opus":0.013525107188085844,"score_gpt":0.28686425668459153,"score_spread":0.2733391494965057,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3156791357","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99947697,0.00014183634,0.000026527076,0.0000212397,0.000002338265,0.000034829867,0.000060399965,8.364753e-7,0.00023491256],"genre_scores_gemma":[0.9991667,0.00030500087,0.000083235296,0.00006217713,0.000014391805,0.00007458532,0.000119012875,0.0000014946376,0.00017337935],"study_design_codex":"observational","study_design_gemma":"qualitative","domain_scores_codex":[0.9994597,0.0002349318,0.00004114251,0.000074438314,0.00005278326,0.00013701046],"domain_scores_gemma":[0.99911743,0.0003496631,0.00024539625,0.0000590693,0.00005474585,0.00017372829],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000721382,0.00047348518,0.00055909535,0.0012787106,0.0013096625,0.0005529407,0.00043525136,0.00077630556,0.00247873],"category_scores_gemma":[0.0024477283,0.0004188378,0.00056599843,0.0010645812,0.0005553158,0.00061982183,0.0010144067,0.00064456597,0.00041094198],"study_design_candidate":"qualitative","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0002861946,0.0006161345,0.99009097,0.000042264503,0.000040124552,0.0039256928,0.0024476033,0.000017720464,0.00025442394,0.000044051732,0.00012316967,0.0021117053],"study_design_scores_gemma":[0.000072995244,0.0045158044,0.967699,0.000047296864,0.00008667268,0.008241603,0.018241728,0.00014938637,0.00009805737,0.00007812099,0.00074628426,0.000023196812],"about_ca_topic_score_codex":0.0044078734,"about_ca_topic_score_gemma":0.0040708585,"teacher_disagreement_score":0.0044078734,"about_ca_system_score_codex":0.00040403524,"about_ca_system_score_gemma":0.0005888817,"threshold_uncertainty_score":0.008764446},"labels":[],"label_agreement":null},{"id":"W3158368208","doi":"10.1186/s13023-021-01953-8","title":"The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill Genome Centre; Montreal Neurological Institute and Hospital; McGill University; McGill University Health Centre","funders":"","keywords":"Clinical trial; Natural history; Medicine; Natural history study; Clinical study design; Disease; Pathology; Internal medicine","score_opus":0.03873933414663061,"score_gpt":0.3296612616070282,"score_spread":0.2909219274603976,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3158368208","genre_codex":"dataset","genre_gemma":"software","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"software","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.003222033,0.002677008,0.018054573,0.008956081,0.0005723766,0.0076944823,0.8953559,0.01129778,0.052169703],"genre_scores_gemma":[0.028435823,0.004057158,0.07400012,0.0080465255,0.0011807622,0.03638244,0.82281,0.0034627055,0.021624422],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9838128,0.0061556203,0.0061832326,0.0013957929,0.0019901725,0.00046244313],"domain_scores_gemma":[0.8831415,0.052046433,0.021020403,0.020880923,0.013385557,0.009525206],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02708067,0.00079348596,0.0024170636,0.007922961,0.0009053507,0.0055960515,0.003006186,0.0021634025,0.18165566],"category_scores_gemma":[0.11334006,0.0009669496,0.0011572861,0.009270496,0.000557504,0.0040254975,0.004500306,0.0020440472,0.06722832],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0025646558,0.0001308685,0.0047868406,0.0064275325,0.0003750779,0.00024912803,0.00020055223,0.0005238205,0.0005428276,0.009842283,0.8574026,0.116953894],"study_design_scores_gemma":[0.004476148,0.00023074959,0.009743429,0.0035637687,0.00041243035,0.0004400308,0.00011022445,0.0012342093,0.000939826,0.01304012,0.9656862,0.00012292627],"about_ca_topic_score_codex":0.00140335,"about_ca_topic_score_gemma":0.0026269858,"teacher_disagreement_score":0.18165566,"about_ca_system_score_codex":0.0021968181,"about_ca_system_score_gemma":0.010917584,"threshold_uncertainty_score":0.60769874},"labels":[],"label_agreement":null},{"id":"W3159140260","doi":"10.1186/s13023-021-01819-z","title":"Clinical and laboratory prognosticators of atrophic papulosis (Degos disease): a systematic review","year":2021,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Parvovirus B19 Infection Studies","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children; Women's College Hospital; University of Toronto; McMaster University","funders":"","keywords":"Medicine; Internal medicine; Disease; Erythrocyte sedimentation rate; Connective tissue disease; Pathology; Dermatology; Gastroenterology; Autoimmune disease","score_opus":0.05030653467969823,"score_gpt":0.3903404748734253,"score_spread":0.3400339401937271,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3159140260","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0032195535,0.99564314,0.00006732413,0.00011906641,0.000038933606,0.00007965242,0.000656843,0.000003991058,0.00017148898],"genre_scores_gemma":[0.038074043,0.96025026,0.00038025377,0.00028850682,0.00007716974,0.00025466998,0.0005783929,0.000004245307,0.00009245262],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.9968321,0.00080797035,0.0013822513,0.00037345188,0.0004969962,0.000107318185],"domain_scores_gemma":[0.98084867,0.013356322,0.0041161994,0.0002035921,0.0012902414,0.0001849775],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002780699,0.0010395572,0.0057565803,0.0079538785,0.0004160435,0.001506391,0.0013755445,0.0012825998,0.0031166836],"category_scores_gemma":[0.01833356,0.0007386552,0.005422436,0.010786699,0.000631263,0.0012639638,0.0007802195,0.0005602326,0.00024475544],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00030944985,0.000023660417,0.01169926,0.93273,0.012579004,0.00020976817,0.00017966154,0.00012099579,0.00014471773,0.00014015826,0.0020822121,0.039781142],"study_design_scores_gemma":[0.000431791,0.0003885483,0.06089118,0.7673508,0.14820074,0.001959607,0.00047904698,0.00021854199,0.00021323246,0.00029447835,0.01949391,0.000078217934],"about_ca_topic_score_codex":0.0075743906,"about_ca_topic_score_gemma":0.01809295,"teacher_disagreement_score":0.0079538785,"about_ca_system_score_codex":0.0014498596,"about_ca_system_score_gemma":0.0048200022,"threshold_uncertainty_score":0.015060604},"labels":[],"label_agreement":null},{"id":"W3159685312","doi":"10.1186/s13023-021-01834-0","title":"ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Calgary; University Health Network","funders":"National Cancer Institute; Pharmacyclics; Grifols; National Institutes of Health; Argenx; Alexion Pharmaceuticals; Prothena; CSL Behring; Biogen; Celgene; Alnylam Pharmaceuticals; Pfizer; Amyloidosis Foundation; Teva Pharmaceutical Industries; Sanofi; Amgen","keywords":"Medicine; Amyloidosis; Organ dysfunction; Intensive care medicine; Disease; Pandemic; Cardiomyopathy; Transthyretin; Coronavirus disease 2019 (COVID-19); Internal medicine; Heart failure; Infectious disease (medical specialty); Sepsis","score_opus":0.020849331205845277,"score_gpt":0.2990807298081929,"score_spread":0.27823139860234763,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3159685312","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.06415813,0.41724634,0.0020168296,0.47474128,0.01001407,0.00008486785,0.001969735,0.00015100559,0.029617824],"genre_scores_gemma":[0.43705225,0.42190427,0.0029416068,0.113812156,0.01737916,0.00011656603,0.0016280371,0.00010207086,0.0050638104],"study_design_codex":"design_other","study_design_gemma":"qualitative","domain_scores_codex":[0.9991391,0.00031035658,0.00007021338,0.00011808491,0.00016644987,0.00019589314],"domain_scores_gemma":[0.996779,0.00088328624,0.00053361733,0.000092693524,0.0007732904,0.00093806605],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0018176863,0.00041316857,0.00042633325,0.0009713544,0.0010783796,0.002511068,0.00047517507,0.0020623577,0.0055641094],"category_scores_gemma":[0.0042139348,0.00018439013,0.0006235523,0.00085666316,0.0009039862,0.0034543574,0.00209818,0.0037017514,0.00090894033],"study_design_candidate":"qualitative","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00044862268,0.00022772762,0.10081367,0.0038766412,0.000370899,0.005843093,0.00820489,0.0005643288,0.0014458684,0.01893445,0.3941577,0.4651121],"study_design_scores_gemma":[0.00007315021,0.00036601047,0.14686136,0.011745529,0.00044625683,0.008967096,0.023272088,0.0009594822,0.00048675528,0.025032565,0.7816033,0.00018646865],"about_ca_topic_score_codex":0.0037004747,"about_ca_topic_score_gemma":0.008638581,"teacher_disagreement_score":0.0055641094,"about_ca_system_score_codex":0.0013665428,"about_ca_system_score_gemma":0.0029210756,"threshold_uncertainty_score":0.018613875},"labels":[],"label_agreement":null},{"id":"W3165259732","doi":"10.1186/s13023-021-01838-w","title":"Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature","year":2021,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":27,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Alberta Children's Hospital","funders":"","keywords":"Tuberous sclerosis; Medicine; TSC1; Indirect costs; TSC2; Pediatrics; Lymphangioleiomyomatosis; Cohort; Internal medicine; Psychiatry; PI3K/AKT/mTOR pathway","score_opus":0.044105210888359114,"score_gpt":0.32509671373900045,"score_spread":0.28099150285064134,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3165259732","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.1637362,0.8292797,0.00016533816,0.0007238946,0.000083328465,0.00011699066,0.004940324,0.000006167471,0.00094812294],"genre_scores_gemma":[0.41122475,0.58370626,0.0006125854,0.0003793971,0.00023545443,0.00023558449,0.0034229434,0.0000056906906,0.00017730541],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.998676,0.00036046933,0.00044363964,0.00018587001,0.00026724066,0.00006672452],"domain_scores_gemma":[0.99684876,0.0014501357,0.0012688437,0.000041739793,0.00030618015,0.000084294596],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0017295643,0.0005435098,0.0012930613,0.006544245,0.00026944344,0.0012735904,0.00054905016,0.00068039866,0.0012988274],"category_scores_gemma":[0.004719789,0.00030656997,0.0021089741,0.008209333,0.00023514434,0.0008626008,0.00046733653,0.00038213123,0.00011649178],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.001062779,0.0002209,0.7135336,0.08813877,0.014514593,0.002155341,0.0008318211,0.0005397821,0.0001611116,0.0009624612,0.006934692,0.1709443],"study_design_scores_gemma":[0.00018888996,0.00037921855,0.9251511,0.033406384,0.0168051,0.0059152967,0.0019101303,0.00060788746,0.00010665801,0.00042948636,0.015005274,0.00009452981],"about_ca_topic_score_codex":0.005607693,"about_ca_topic_score_gemma":0.007460915,"teacher_disagreement_score":0.006544245,"about_ca_system_score_codex":0.0009833946,"about_ca_system_score_gemma":0.001175967,"threshold_uncertainty_score":0.011150122},"labels":[],"label_agreement":null},{"id":"W3165587716","doi":"10.1186/s13023-021-01862-w","title":"The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review","year":2021,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":130,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Calgary; Broadcom (Canada); Vancouver Coastal Health","funders":"Sarepta Therapeutics","keywords":"Medicine; Duchenne muscular dystrophy; Pediatrics; Natural history; Scoliosis; Muscular dystrophy; Physical therapy; Surgery; Internal medicine","score_opus":0.022643045943040722,"score_gpt":0.34664898408031874,"score_spread":0.324005938137278,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3165587716","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0018169979,0.9970368,0.000050534585,0.00016959032,0.00004590974,0.00009176315,0.000593782,0.0000029013052,0.00019173001],"genre_scores_gemma":[0.023202017,0.9752535,0.00029416726,0.0004300168,0.000064551234,0.00027235356,0.0004167564,0.0000033087204,0.00006327372],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.99416476,0.0014995578,0.002787006,0.00053011865,0.0008383198,0.0001802089],"domain_scores_gemma":[0.9708261,0.020247074,0.0061978186,0.00029702796,0.0021466573,0.00028537124],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0048155743,0.0010482899,0.0059204996,0.010928099,0.00059954415,0.0020690488,0.0014212684,0.0014750081,0.0033276586],"category_scores_gemma":[0.027681114,0.00076540426,0.0058109253,0.014037443,0.0006975968,0.0018935357,0.0010754643,0.0008862067,0.00021143492],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00018804138,0.000012777061,0.0033920691,0.9635353,0.008887543,0.00017051083,0.00025653647,0.000098147524,0.00009757394,0.00014640685,0.0017478244,0.021467278],"study_design_scores_gemma":[0.00017277506,0.00016198165,0.016121855,0.9023655,0.064537525,0.00077959796,0.00048797415,0.00008056324,0.000111945636,0.00018885739,0.014948116,0.00004326851],"about_ca_topic_score_codex":0.014025424,"about_ca_topic_score_gemma":0.0386462,"teacher_disagreement_score":0.014025424,"about_ca_system_score_codex":0.0039205994,"about_ca_system_score_gemma":0.008514753,"threshold_uncertainty_score":0.028446078},"labels":[],"label_agreement":null},{"id":"W3177296884","doi":"10.1186/s13023-021-01899-x","title":"Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Tuberous sclerosis; Medicine; Indirect costs; TSC1; Cohort; Pediatrics; Confidence interval; Retrospective cohort study; Cohort study; Internal medicine; Psychiatry; PI3K/AKT/mTOR pathway","score_opus":0.031223290581265994,"score_gpt":0.2847818794514965,"score_spread":0.25355858887023053,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3177296884","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9994734,0.00009469349,0.000015990503,0.000013300826,0.0000015409427,0.000009363076,0.00030998385,6.0417545e-7,0.0000811724],"genre_scores_gemma":[0.99911565,0.00014332784,0.000049300343,0.00001673809,0.0000049644736,0.000022815942,0.0005730629,0.0000013780483,0.00007282159],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99954224,0.00014039213,0.000054038774,0.00011092828,0.00006442484,0.00008791148],"domain_scores_gemma":[0.9988612,0.00013529108,0.00060372223,0.00009483443,0.00011310862,0.00019192685],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00095931947,0.00043822476,0.00044686283,0.00098518,0.0006064013,0.0008275483,0.00038270376,0.000434593,0.0011646298],"category_scores_gemma":[0.002211701,0.0003126176,0.00066535,0.0012692272,0.00024015854,0.00054904673,0.000633769,0.00056510005,0.000182328],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00006634553,0.000034317804,0.9991335,0.0000062159265,0.00004539573,0.00008678278,0.000121618104,0.000020520394,0.000021545693,0.000009149071,0.00008075409,0.00037382325],"study_design_scores_gemma":[0.000011532232,0.00009476114,0.99882156,0.000009940922,0.000039966133,0.0002702015,0.0004940876,0.00008266239,0.000012683701,0.000009009424,0.00014995944,0.0000036690883],"about_ca_topic_score_codex":0.01065988,"about_ca_topic_score_gemma":0.008798029,"teacher_disagreement_score":0.01065988,"about_ca_system_score_codex":0.0006247846,"about_ca_system_score_gemma":0.00042922134,"threshold_uncertainty_score":0.02119565},"labels":[],"label_agreement":null},{"id":"W3178427783","doi":"10.1186/s13023-021-01889-z","title":"Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Osteoarthritis Treatment and Mechanisms","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Phenomenome Discoveries (Canada)","funders":"","keywords":"Population; Epidemiology; Incidence (geometry); Disease; Genetics; Pediatrics; Medicine; Biology; Pathology; Environmental health","score_opus":0.02999891503622966,"score_gpt":0.30963416914121566,"score_spread":0.279635254104986,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3178427783","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.82052475,0.00074151164,0.1611101,0.00089864555,0.0000407457,0.0001770598,0.014294129,0.0003461722,0.0018669283],"genre_scores_gemma":[0.96502584,0.00027698817,0.028156418,0.000093464834,0.000019004076,0.00014904988,0.005501349,0.000025032925,0.0007529028],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9987715,0.00054109615,0.000090584275,0.00044094,0.00008160561,0.00007427442],"domain_scores_gemma":[0.9944225,0.0038109364,0.000901352,0.00038674255,0.0003347947,0.00014380073],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0030719582,0.00040706873,0.00049996877,0.00229044,0.00028918294,0.00090299454,0.0007661796,0.0008681584,0.0023521003],"category_scores_gemma":[0.010279488,0.0003431791,0.0014681945,0.0016180674,0.0003462442,0.00041533203,0.0007376113,0.0008266254,0.00037641247],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00009970844,0.000045018256,0.8754953,0.000050733306,0.0005276046,0.00031759177,0.00016957856,0.103634074,0.0004173381,0.003321877,0.0009998903,0.014921264],"study_design_scores_gemma":[0.000051928706,0.00018639902,0.29785496,0.00013104183,0.00046495063,0.0014571177,0.0004026885,0.68398196,0.00066183024,0.009900036,0.0048579974,0.00004918865],"about_ca_topic_score_codex":0.016460694,"about_ca_topic_score_gemma":0.008638733,"teacher_disagreement_score":0.016460694,"about_ca_system_score_codex":0.0008440824,"about_ca_system_score_gemma":0.0006577207,"threshold_uncertainty_score":0.032729745},"labels":[],"label_agreement":null},{"id":"W3183861250","doi":"10.1186/s13023-021-02097-5","title":"Alterations in brain morphology by MRI in adults with neurofibromatosis 1","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"BC Children's Hospital; Children's & Women's Health Centre of British Columbia; University of British Columbia","funders":"","keywords":"Human genetics; Neurofibromatosis; Morphology (biology); Brain morphometry; Magnetic resonance imaging; Medicine; Biology; Neuroscience; Genetics; Internal medicine; Pathology; Radiology; Gene","score_opus":0.008422392707207273,"score_gpt":0.2450086524848455,"score_spread":0.23658625977763822,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3183861250","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99951327,0.00016174447,0.000042998647,0.000019936077,0.0000019189376,0.0000030871224,0.0000629428,0.000003824147,0.00019027502],"genre_scores_gemma":[0.99959654,0.000100392404,0.00012238284,0.000015182796,0.000005990227,0.0000034144207,0.00009555258,0.000001211808,0.00005935032],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.999863,0.000025545238,0.000023080005,0.000037372836,0.00003166563,0.000019250292],"domain_scores_gemma":[0.999629,0.000052112115,0.00022751218,0.0000124694625,0.000035177418,0.000043763983],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00019959567,0.00030967552,0.00017781123,0.00083411444,0.00021740033,0.00026058714,0.0001305016,0.0002926203,0.000976689],"category_scores_gemma":[0.0013445428,0.00014319022,0.00009644981,0.0003540031,0.00023113217,0.00033755242,0.00021035552,0.00015502656,0.00018893972],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0001963945,0.000025303061,0.98948145,0.000019202394,0.000020411586,0.0016918846,0.00019217683,0.00005835674,0.0041781245,0.000016543525,0.00016285403,0.003957357],"study_design_scores_gemma":[0.0000054931197,0.00013818668,0.9913087,0.00000696551,0.000010012395,0.0078059984,0.00013807799,0.00008475351,0.00037301364,0.000016452546,0.00011027262,0.000002149014],"about_ca_topic_score_codex":0.0011320561,"about_ca_topic_score_gemma":0.0017313772,"teacher_disagreement_score":0.0011320561,"about_ca_system_score_codex":0.00013995518,"about_ca_system_score_gemma":0.0000870828,"threshold_uncertainty_score":0.0032673478},"labels":[],"label_agreement":null},{"id":"W3189230863","doi":"10.1186/s13023-021-01962-7","title":"The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Toronto General Hospital; McMaster University; York University; University of Toronto; University Health Network","funders":"","keywords":"Psychosocial; Health care; Medicine; Sick building syndrome; Rehabilitation; Nursing; Ehlers–Danlos syndrome; Quality of life (healthcare); Competence (human resources); Psychology; Psychiatry; Physical therapy; Pathology","score_opus":0.014248047267605283,"score_gpt":0.3565586049036073,"score_spread":0.34231055763600204,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3189230863","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.738439,0.0051339054,0.0145309,0.097832516,0.0031850552,0.01583968,0.0010932384,0.0009704981,0.122975245],"genre_scores_gemma":[0.8742303,0.00563584,0.055097595,0.015014839,0.001023431,0.0048979344,0.0013652158,0.00020411737,0.042530823],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.99851924,0.0004330661,0.00008075657,0.00014132148,0.0003751783,0.00045047593],"domain_scores_gemma":[0.9929484,0.0001600444,0.00018627227,0.00007905594,0.0007037207,0.0059224144],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00148433,0.00039039913,0.00022973922,0.00050367945,0.0032692496,0.0012114756,0.0011496914,0.0006680911,0.0060414947],"category_scores_gemma":[0.002691622,0.000324421,0.0003303662,0.00026446595,0.00090222957,0.0005661589,0.0023821634,0.001784942,0.0007890031],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00042728614,0.0046635238,0.17626873,0.0010371435,0.00009487589,0.038317513,0.03194875,0.001824585,0.013346712,0.0028097061,0.2605784,0.46868277],"study_design_scores_gemma":[0.0005949498,0.0028939154,0.7043508,0.0019816922,0.0000849904,0.009732423,0.022965595,0.0020433464,0.0020063007,0.00097141135,0.25216752,0.00020705216],"about_ca_topic_score_codex":0.2146009,"about_ca_topic_score_gemma":0.5091085,"teacher_disagreement_score":0.2146009,"about_ca_system_score_codex":0.008600174,"about_ca_system_score_gemma":0.04343381,"threshold_uncertainty_score":0.42670363},"labels":[],"label_agreement":null},{"id":"W3191554379","doi":"10.1186/1750-1172-1-34","title":"CHARGE syndrome","year":2006,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":274,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Western University; London Health Sciences Centre; Dalhousie University; Izaak Walton Killam Health Centre","funders":"","keywords":"CHARGE syndrome; Choanal atresia; Coloboma; Tetralogy of Fallot; Medicine; Hypoplastic left heart syndrome; Atresia; Pediatrics; Anatomy; Internal medicine; Heart disease; Psychiatry","score_opus":0.027429158062915075,"score_gpt":0.3036937144186019,"score_spread":0.2762645563556868,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3191554379","genre_codex":"other","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.2540125,0.06349343,0.015334654,0.015368473,0.0048013036,0.000617408,0.016538752,0.0025590998,0.62727445],"genre_scores_gemma":[0.7455128,0.022503184,0.008848329,0.009506215,0.0011963638,0.0003837078,0.016115895,0.0006112769,0.19532222],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.99946755,0.000042835873,0.000034867724,0.00017672993,0.00015011709,0.00012782394],"domain_scores_gemma":[0.99957746,0.000081719074,0.00006348685,0.000029208055,0.00014403992,0.00010404055],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00019793077,0.001934123,0.0008854424,0.0016120416,0.001712445,0.0017413574,0.00094341196,0.0014531153,0.057176452],"category_scores_gemma":[0.0016715808,0.00021313106,0.00053202314,0.0015920344,0.00082987343,0.0008599415,0.0016547723,0.0012131799,0.008887445],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0008209124,0.00026958747,0.042494062,0.001822511,0.00021922242,0.29427144,0.0012950798,0.0007504126,0.02279564,0.07207353,0.24501751,0.31817004],"study_design_scores_gemma":[0.00020446583,0.00011743175,0.020801108,0.00073949405,0.00012169583,0.56550723,0.0006628813,0.00049706025,0.0026846249,0.01752122,0.391074,0.00006867276],"about_ca_topic_score_codex":0.0032177593,"about_ca_topic_score_gemma":0.0025454222,"teacher_disagreement_score":0.057176452,"about_ca_system_score_codex":0.0010647882,"about_ca_system_score_gemma":0.0011780171,"threshold_uncertainty_score":0.19127429},"labels":[],"label_agreement":null},{"id":"W3197858956","doi":"10.1186/s13023-021-02003-z","title":"Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University Health Network","funders":"","keywords":"Attention deficit hyperactivity disorder; Methylphenidate; Randomized controlled trial; Psychology; Placebo; Psychiatry; Intervention (counseling); Clinical psychology; Goal Attainment Scaling; Intellectual disability; Pediatrics; Medicine; Internal medicine","score_opus":0.01603050653801909,"score_gpt":0.27704859103765855,"score_spread":0.2610180844996395,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3197858956","genre_codex":"protocol","genre_gemma":"protocol","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"protocol","genre_consensus":"protocol","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00124921,0.0003459411,0.001017502,0.00022226808,0.0002204568,0.9949779,0.0010942479,0.000082158214,0.0007902594],"genre_scores_gemma":[0.0010563981,0.00017598478,0.0013507731,0.00012502883,0.00004882868,0.99672383,0.00019421031,0.000004985453,0.0003200329],"study_design_codex":"randomized_trial","study_design_gemma":"nonrandomized_trial","domain_scores_codex":[0.9835792,0.0096717095,0.001824667,0.0018087069,0.001492147,0.0016234977],"domain_scores_gemma":[0.98401386,0.0031910683,0.0037936782,0.002471043,0.0041605923,0.0023696846],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.030954039,0.007384417,0.011375171,0.0023081473,0.00483184,0.0047797407,0.0047438396,0.0077611716,0.061498977],"category_scores_gemma":[0.031480264,0.0044027544,0.009147887,0.0027793504,0.0030157175,0.0041107647,0.0030597795,0.009904496,0.015411891],"study_design_candidate":"nonrandomized_trial","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.83521557,0.013800158,0.0013325979,0.031183042,0.004250229,0.00041718976,0.00060885027,0.0044044084,0.0041995808,0.004949642,0.040086556,0.059552234],"study_design_scores_gemma":[0.8860902,0.02565319,0.0033746033,0.004775514,0.001982348,0.00016375387,0.00015102871,0.0021437563,0.0011016143,0.0038735336,0.07050824,0.00018214657],"about_ca_topic_score_codex":0.0027426681,"about_ca_topic_score_gemma":0.005831678,"teacher_disagreement_score":0.061498977,"about_ca_system_score_codex":0.0066379523,"about_ca_system_score_gemma":0.01740658,"threshold_uncertainty_score":0.20573455},"labels":[],"label_agreement":null},{"id":"W3198034005","doi":"10.1186/s13023-021-02009-7","title":"Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of Toronto; St. Michael's Hospital","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; Rare Diseases Clinical Research Network","keywords":"Medicine; Biomarker; Arteriovenous malformation; Internal medicine; Cohort; Gastroenterology; Prospective cohort study; Telangiectasia; Vascular malformation; Pathology; Oncology; Surgery","score_opus":0.013214798866886018,"score_gpt":0.2251530718058228,"score_spread":0.2119382729389368,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3198034005","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9986644,0.00033081797,0.00041850848,0.000026094804,0.0000072350304,0.000027786304,0.0002159463,0.00001083168,0.00029850085],"genre_scores_gemma":[0.99839324,0.00010053822,0.0009516813,0.000038053273,0.0000160723,0.00003860073,0.00025789381,0.0000023594657,0.00020153672],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9996989,0.00007290018,0.000026609772,0.00009143879,0.00006452817,0.00004576583],"domain_scores_gemma":[0.99934036,0.0001660407,0.00022107609,0.00003565847,0.000116097195,0.00012067294],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00052063336,0.00035414353,0.00026716347,0.0007671553,0.000252024,0.00044530586,0.00016997982,0.00030105346,0.0012335419],"category_scores_gemma":[0.0013058654,0.00012565943,0.00017234232,0.00047892003,0.00024017046,0.00014881365,0.00022796416,0.00037737124,0.00014692864],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0028070805,0.0004310754,0.8773563,0.00014055696,0.00016570913,0.0009919006,0.00030968006,0.00022652735,0.102678,0.00010829987,0.00033675568,0.014448109],"study_design_scores_gemma":[0.000085000334,0.0034024399,0.96185285,0.000017693395,0.00013569677,0.0035831146,0.00020784837,0.0008370444,0.028693758,0.000108925684,0.0010640303,0.000011554108],"about_ca_topic_score_codex":0.00036802996,"about_ca_topic_score_gemma":0.00041200948,"teacher_disagreement_score":0.0012335419,"about_ca_system_score_codex":0.00021057425,"about_ca_system_score_gemma":0.00017854467,"threshold_uncertainty_score":0.0041266084},"labels":[],"label_agreement":null},{"id":"W3199508671","doi":"10.1186/s13023-021-02012-y","title":"Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Toronto Western Hospital; University of Toronto; St. Michael's Hospital","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; Li Ka Shing Foundation","keywords":"Telangiectasia; Medicine; Human genetics; Modified Rankin Scale; Internal medicine; Pathology; Genetics; Biology; Ischemic stroke","score_opus":0.01418558210596045,"score_gpt":0.2639664681301344,"score_spread":0.24978088602417398,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3199508671","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99503124,0.001257503,0.0005227323,0.00016100428,0.00002199305,0.00004218622,0.0016304157,0.000031455947,0.0013014127],"genre_scores_gemma":[0.99884355,0.0000928538,0.00046737024,0.00000972573,0.000010513123,0.0000165277,0.00044904635,0.0000024475735,0.000107990825],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99854076,0.00065342314,0.00020260066,0.00017924569,0.00034330957,0.00008065263],"domain_scores_gemma":[0.9935616,0.0021021583,0.0030703342,0.00022713239,0.0005574754,0.00048119272],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0021316074,0.0004729051,0.00056037656,0.0016025625,0.00019425816,0.0006243599,0.00066976936,0.0004166748,0.0017247407],"category_scores_gemma":[0.007854529,0.00013259563,0.0006591675,0.000938682,0.0003609438,0.00056337425,0.00039709386,0.00060118694,0.00031292145],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00027555943,0.00003304023,0.99519616,0.000024996625,0.00012243116,0.00011193964,0.000033549335,0.00030490686,0.0001262772,0.000037142672,0.00023207619,0.0035019126],"study_design_scores_gemma":[0.000026718706,0.00034506954,0.9958782,0.000017022101,0.00007113426,0.0008239632,0.00006419578,0.002323458,0.000115591094,0.00012265127,0.00019678634,0.000015079622],"about_ca_topic_score_codex":0.0034108318,"about_ca_topic_score_gemma":0.0036427302,"teacher_disagreement_score":0.0034108318,"about_ca_system_score_codex":0.00047223532,"about_ca_system_score_gemma":0.00052158907,"threshold_uncertainty_score":0.011273146},"labels":[],"label_agreement":null},{"id":"W3204127143","doi":"10.1186/s13023-021-01997-w","title":"Physiotherapy for epidermolysis bullosa: clinical practice guidelines","year":2021,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"Debra International; Dystrophic Epidermolysis Bullosa Research Association of America","keywords":"Psychological intervention; Guideline; Medicine; Best practice; Epidermolysis bullosa; Intervention (counseling); Quality of life (healthcare); Occupational therapy; Physical therapy; Nursing","score_opus":0.08234305119166965,"score_gpt":0.4730557529749288,"score_spread":0.3907127017832591,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3204127143","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0034728134,0.47557908,0.031462442,0.37075368,0.015408504,0.024601499,0.0057985666,0.0014548436,0.07146857],"genre_scores_gemma":[0.020437341,0.5652187,0.27832323,0.07886214,0.0038421175,0.02834476,0.011113439,0.00030540742,0.013552949],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9780571,0.008300056,0.007572726,0.0009400694,0.0045061535,0.0006238634],"domain_scores_gemma":[0.9281941,0.01864997,0.009900995,0.0013507679,0.037930887,0.0039731674],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.020122122,0.002168643,0.0033149314,0.009818098,0.0027395044,0.00393022,0.0070433533,0.011270297,0.009088451],"category_scores_gemma":[0.07514887,0.0012716873,0.0042291004,0.0097461,0.0018744093,0.004667171,0.004538079,0.007198428,0.007524345],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00009045063,0.0005246914,0.0017316724,0.061138116,0.00027704486,0.00089200685,0.0018740055,0.0015061231,0.000583098,0.004108737,0.500076,0.427198],"study_design_scores_gemma":[0.00051177654,0.00021407698,0.005205148,0.39394414,0.0007425152,0.0014100712,0.0014758477,0.0011379842,0.00042812558,0.011816863,0.58294064,0.00017275038],"about_ca_topic_score_codex":0.024130415,"about_ca_topic_score_gemma":0.03794871,"teacher_disagreement_score":0.024130415,"about_ca_system_score_codex":0.007776164,"about_ca_system_score_gemma":0.035750654,"threshold_uncertainty_score":0.10641724},"labels":[],"label_agreement":null},{"id":"W4205782081","doi":"10.1186/s13023-021-02164-x","title":"Ketogenic diet for mitochondrial disease: potential role in treating the Multiple Symmetric Lipomatosis phenotype associated with the common MT-TK genetic mutation","year":2022,"lang":"en","type":"letter","venue":"Orphanet Journal of Rare Diseases","topic":"Diet and metabolism studies","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Simon Fraser University; St. Paul's Hospital; Vancouver General Hospital; University of British Columbia; Providence Health Care","funders":"","keywords":"Phenotype; Ketogenic diet; Mutation; Genetics; Human genetics; Disease; Biology; Clinical phenotype; Mitochondrial disease; Lipomatosis; Mitochondrion; Metabolic disease; Mitochondrial DNA; Bioinformatics; Medicine; Gene; Internal medicine; Endocrinology; Neuroscience","score_opus":0.010427284555443594,"score_gpt":0.23802628973749357,"score_spread":0.22759900518204998,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4205782081","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.07999372,0.014025936,0.0012260601,0.85849124,0.016269593,0.00007783911,0.0002480871,0.00014454876,0.02952302],"genre_scores_gemma":[0.58058804,0.015439851,0.0032220085,0.27472755,0.09845486,0.00011313047,0.0001994892,0.00007768739,0.027177325],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9997298,0.000077522345,0.000044099852,0.00004725461,0.0000613972,0.000039920575],"domain_scores_gemma":[0.99896276,0.0005567153,0.00010368959,0.000042891763,0.00009524425,0.00023860995],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003632914,0.0005333427,0.00083439314,0.0005457365,0.0009944385,0.00081313757,0.0007216336,0.010632363,0.003601802],"category_scores_gemma":[0.003596031,0.00023571943,0.0006776836,0.00042431147,0.0008329267,0.0012642075,0.00031511017,0.005713316,0.0010791806],"study_design_candidate":"case_report","study_design_consensus":"case_report","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0007253013,0.00033844594,0.019383783,0.00029689958,0.0000952732,0.8210763,0.00020832436,0.00052093656,0.0034314287,0.0057898704,0.118305966,0.029827474],"study_design_scores_gemma":[0.0006216768,0.00057817204,0.02102627,0.00055162376,0.00015501805,0.8587519,0.0003687123,0.0031339736,0.0018768216,0.013127228,0.099713825,0.00009488271],"about_ca_topic_score_codex":0.0016079741,"about_ca_topic_score_gemma":0.0016182569,"teacher_disagreement_score":0.010632363,"about_ca_system_score_codex":0.0012806911,"about_ca_system_score_gemma":0.0006864344,"threshold_uncertainty_score":0.012049198},"labels":[],"label_agreement":null},{"id":"W4210277170","doi":"10.1186/s13023-021-02156-x","title":"Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH)","year":2022,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University; Shriners Hospitals for Children - Canada; Montreal Children's Hospital","funders":"Medical Research Council; Kyowa Hakko Kirin","keywords":"Hypophosphatemia; Rickets; Medicine; Osteomalacia; Quality of life (healthcare); Wasting; Disease; Osteoporosis; Bone health; Pediatrics; Physical therapy; Vitamin D and neurology; Endocrinology; Pathology","score_opus":0.014882004046708102,"score_gpt":0.31346557564807764,"score_spread":0.29858357160136956,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4210277170","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0021049776,0.9804796,0.00046462883,0.01164312,0.0010452598,0.0000121079565,0.00010472314,0.0000120237955,0.0041334676],"genre_scores_gemma":[0.01738872,0.97109276,0.0012045625,0.0067028045,0.0015462692,0.000041236613,0.00017370685,0.00001043347,0.0018395544],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9989436,0.00042170024,0.00014601478,0.00013460957,0.0002605178,0.00009351364],"domain_scores_gemma":[0.9986651,0.0005650682,0.00016248747,0.000019625608,0.00043840337,0.00014926567],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0020470493,0.00045885908,0.00067185285,0.0007310636,0.00032910623,0.0010803441,0.0007837046,0.0015919708,0.0032069723],"category_scores_gemma":[0.0038112102,0.00012153714,0.0006677802,0.0006036078,0.0005141792,0.0008274147,0.0007939352,0.001439574,0.0009760528],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0003009191,0.000063175954,0.0070052957,0.013520921,0.00036753426,0.0018295549,0.00095721596,0.00038023962,0.0025959834,0.0036690652,0.06276172,0.90654844],"study_design_scores_gemma":[0.00007467944,0.0003357604,0.021567348,0.015496056,0.0005659436,0.004181641,0.0017010007,0.00014200498,0.0012183267,0.002635789,0.9520173,0.00006409352],"about_ca_topic_score_codex":0.001885961,"about_ca_topic_score_gemma":0.003771803,"teacher_disagreement_score":0.0032069723,"about_ca_system_score_codex":0.0006174995,"about_ca_system_score_gemma":0.0013194946,"threshold_uncertainty_score":0.010825932},"labels":[],"label_agreement":null},{"id":"W4210730941","doi":"10.1186/s13023-021-02068-w","title":"Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Medical Research Council; Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen; AFM-Téléthon; Universitätsklinikum Essen; Wellcome Trust","keywords":"Microcephaly; Genetics; Biology; Missense mutation; Phenotype; Nonsense mutation; Pathology; Medicine; Gene","score_opus":0.006502900155390231,"score_gpt":0.22569285616928467,"score_spread":0.21918995601389443,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4210730941","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.860731,0.09742703,0.016761208,0.0031617777,0.0003692615,0.00012349157,0.0022138245,0.00059993216,0.018612409],"genre_scores_gemma":[0.94628763,0.037995037,0.008497574,0.0005982555,0.00042348553,0.00007199868,0.002269163,0.00005135253,0.0038055223],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99987936,0.000014342802,0.000015563577,0.000045315424,0.000025226283,0.000020037767],"domain_scores_gemma":[0.9998362,0.000037321468,0.000048153895,0.000012714447,0.000032442527,0.000033159948],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002022316,0.001105672,0.00045109363,0.00095742027,0.00017933482,0.0005418138,0.00046033048,0.00085910363,0.0032774424],"category_scores_gemma":[0.00026539396,0.00018135463,0.00026906942,0.00047381799,0.00048900105,0.0005395354,0.0004063954,0.0004676458,0.00049074955],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0025264798,0.0004547995,0.053018406,0.0032233344,0.00025104513,0.18753873,0.00071273575,0.0023718197,0.5584448,0.010005304,0.0054290122,0.17602362],"study_design_scores_gemma":[0.00025561472,0.0009531582,0.10075546,0.00070965034,0.00050474587,0.63420725,0.0008132295,0.006585089,0.1220531,0.014539043,0.11854263,0.00008101582],"about_ca_topic_score_codex":0.0002867726,"about_ca_topic_score_gemma":0.00020135539,"teacher_disagreement_score":0.0032774424,"about_ca_system_score_codex":0.00036079105,"about_ca_system_score_gemma":0.00021584526,"threshold_uncertainty_score":0.010964155},"labels":[],"label_agreement":null},{"id":"W4210737894","doi":"10.1186/s13023-022-02172-5","title":"Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy","year":2022,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":36,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Calgary","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute on Aging; Medical Research Council; National Institute for Health and Care Research; National Institutes of Health; Motor Neurone Disease Association; University of Texas Southwestern Medical Center","keywords":"Medicine; Myopathy; Disease; Dementia; Intensive care medicine; Bioinformatics; Pathology","score_opus":0.02410556985770698,"score_gpt":0.28793098137181194,"score_spread":0.263825411514105,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4210737894","genre_codex":"commentary","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.048882645,0.016077504,0.28055277,0.53220063,0.019019062,0.010063345,0.00075919373,0.003295338,0.08914952],"genre_scores_gemma":[0.22190098,0.012619476,0.67190456,0.06753234,0.004726424,0.0089585,0.002245637,0.00054224156,0.0095698815],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.97017103,0.0142478105,0.004864495,0.0019174783,0.00695283,0.0018463383],"domain_scores_gemma":[0.94901806,0.006843699,0.004420483,0.0027641223,0.026037013,0.0109165795],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.042983964,0.00081753853,0.0010899325,0.0030326983,0.0036323178,0.0045067216,0.0054916935,0.005245879,0.003841075],"category_scores_gemma":[0.074298635,0.0005620605,0.0020020811,0.0011354559,0.0015113206,0.0037198279,0.009262546,0.009379804,0.002443295],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00033019026,0.0020021927,0.020070553,0.0015061308,0.00022817016,0.0025779542,0.0048897,0.0031612334,0.0029216548,0.020376243,0.27096647,0.67096955],"study_design_scores_gemma":[0.0013690547,0.00383149,0.06261768,0.0197538,0.00053700554,0.0053649596,0.014401349,0.015196906,0.0063320836,0.06581133,0.8042454,0.00053896283],"about_ca_topic_score_codex":0.0037688552,"about_ca_topic_score_gemma":0.0044739028,"teacher_disagreement_score":0.042983964,"about_ca_system_score_codex":0.005816732,"about_ca_system_score_gemma":0.023175627,"threshold_uncertainty_score":0.22732365},"labels":[],"label_agreement":null},{"id":"W4210870819","doi":"10.1186/s13023-022-02181-4","title":"Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Dalhousie University","funders":"Sanofi Genzyme; Amicus Therapeutics; Takeda Pharmaceutical Company; Takeda Pharmaceuticals U.S.A.; Idorsia Pharmaceuticals; Sanofi","keywords":"Fabry disease; Disease; Medicine; Enzyme replacement therapy; Asymptomatic; Intensive care medicine; Internal medicine; Pediatrics","score_opus":0.10591268988564681,"score_gpt":0.40452130159031435,"score_spread":0.29860861170466757,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4210870819","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.14108026,0.0722834,0.0168593,0.70597434,0.0039936416,0.0011008857,0.0027431098,0.00042277132,0.055542286],"genre_scores_gemma":[0.83029467,0.024462443,0.044866532,0.09357834,0.0024051857,0.000940764,0.0015916923,0.00027647306,0.0015839543],"study_design_codex":"design_other","study_design_gemma":"observational","domain_scores_codex":[0.8909539,0.06869459,0.017405437,0.0042817057,0.014985944,0.0036784504],"domain_scores_gemma":[0.5896572,0.25739965,0.06674284,0.014292979,0.059313558,0.012593761],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.09119461,0.00029372267,0.0008069301,0.0028340805,0.002083526,0.0068123075,0.0021621122,0.0037776935,0.0026989202],"category_scores_gemma":[0.33311152,0.0005814465,0.0008564252,0.0036232737,0.0027535642,0.005606529,0.0039999685,0.004719079,0.0006053212],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00037794228,0.00025297928,0.1699157,0.008729471,0.0003751975,0.0010386754,0.021070305,0.001158571,0.00089960877,0.031585388,0.15808533,0.6065109],"study_design_scores_gemma":[0.00056050584,0.0005094482,0.20709261,0.057123594,0.0010249686,0.0021090251,0.029364066,0.0033876535,0.002322757,0.04602593,0.6500324,0.0004471159],"about_ca_topic_score_codex":0.014610802,"about_ca_topic_score_gemma":0.031190494,"teacher_disagreement_score":0.09119461,"about_ca_system_score_codex":0.008359177,"about_ca_system_score_gemma":0.02801204,"threshold_uncertainty_score":0.48228896},"labels":[],"label_agreement":null},{"id":"W4211254359","doi":"10.1186/1750-1172-8-14","title":"Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics","year":2013,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":33,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Sahlgrenska Akademin; National Institutes of Health; Göteborgs Universitet; Fukuoka University; Parkinson Society Canada; Sveriges Läkarförbund; American Clinical Neurophysiology Society; Mayo Clinic; Norske Legeforening; International Parkinson and Movement Disorder Society; Epilepsy Society; University of Nebraska Medical Center; Sahlgrenska Universitetssjukhuset; Dystonia Medical Research Foundation; National Institute of Neurological Disorders and Stroke; Universitetet i Bergen; American-Scandinavian Foundation","keywords":"Spinocerebellar ataxia; Ataxia; Genetics; Cerebellar ataxia; Missense mutation; Biology; Trinucleotide repeat expansion; Age of onset; Medicine; Allele; Phenotype; Disease; Gene; Pathology; Neuroscience","score_opus":0.035536104002000614,"score_gpt":0.2911563490665211,"score_spread":0.25562024506452047,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4211254359","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00252628,0.9948384,0.0004323002,0.00037721143,0.00016476908,0.0000079828205,0.00010933519,0.00002461512,0.0015191882],"genre_scores_gemma":[0.012203207,0.98519945,0.0007724453,0.00046290483,0.00047121148,0.0000170923,0.00031593372,0.000008896388,0.0005487585],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9994617,0.00007624327,0.00016140392,0.00012521062,0.00012183071,0.000053463606],"domain_scores_gemma":[0.99931216,0.00028843668,0.00013004382,0.000024440244,0.00018299266,0.00006185584],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006552113,0.0012230293,0.0018101189,0.0060500014,0.00035003893,0.0011401474,0.0011345645,0.0007958922,0.0017221418],"category_scores_gemma":[0.0010243786,0.00039933433,0.0007550497,0.005681205,0.00082367024,0.0016365647,0.0006004159,0.0010558782,0.0008553451],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0001911441,0.0001812267,0.016017066,0.012998463,0.0003665294,0.010880672,0.0004313577,0.0007032054,0.0032854965,0.003178928,0.0406362,0.9111297],"study_design_scores_gemma":[0.000048742568,0.0003571303,0.05741019,0.013055532,0.0011772405,0.17296335,0.00088625465,0.0006186922,0.001262658,0.003906785,0.7481631,0.00015037697],"about_ca_topic_score_codex":0.0021910155,"about_ca_topic_score_gemma":0.0023811066,"teacher_disagreement_score":0.0060500014,"about_ca_system_score_codex":0.0006246191,"about_ca_system_score_gemma":0.0007498997,"threshold_uncertainty_score":0.005761087},"labels":[],"label_agreement":null},{"id":"W4212958893","doi":"10.1186/s13023-022-02217-9","title":"Rare disorders have many faces: in silico characterization of rare disorder spectrum","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia; Alberta Children's Hospital; University of Calgary","funders":"Canadian Institutes of Health Research; Genome British Columbia; BC Children's Hospital; Children's Hospital Foundation; Genome Canada","keywords":"In silico; Human genetics; Computational biology; Characterization (materials science); Biology; Genetics; Nanotechnology; Materials science; Gene","score_opus":0.004669936726636064,"score_gpt":0.2146430095363517,"score_spread":0.20997307280971564,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4212958893","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.8711356,0.0014327621,0.106684506,0.0017580569,0.00016345258,0.00028507126,0.010433363,0.0030032396,0.0051039374],"genre_scores_gemma":[0.8990062,0.00052650546,0.08309869,0.00043262885,0.00006022278,0.00017163207,0.015939975,0.00026379948,0.0005003097],"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","domain_scores_codex":[0.9988482,0.0005114294,0.000092106515,0.00032646873,0.00013223705,0.00008943903],"domain_scores_gemma":[0.99264646,0.0059544975,0.00047152402,0.000408459,0.00028436715,0.00023469253],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0027822517,0.0009607501,0.0008076418,0.0019609074,0.0007177616,0.0013748647,0.000943235,0.0009396614,0.0035127767],"category_scores_gemma":[0.011548229,0.00040272492,0.0022609322,0.00089214323,0.0003679833,0.00066222926,0.000965702,0.0007121887,0.0008650899],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0016173818,0.0005770608,0.46237022,0.0014333206,0.001818473,0.0057086786,0.00072957965,0.42843145,0.014663757,0.010471562,0.015906276,0.056272253],"study_design_scores_gemma":[0.00016091867,0.00016470821,0.025636496,0.00012794904,0.00047657627,0.0034149368,0.0003805425,0.94575965,0.0030297844,0.014673496,0.0061239996,0.000051023835],"about_ca_topic_score_codex":0.0037970233,"about_ca_topic_score_gemma":0.0043622414,"teacher_disagreement_score":0.0037970233,"about_ca_system_score_codex":0.00054009317,"about_ca_system_score_gemma":0.0013959509,"threshold_uncertainty_score":0.014714122},"labels":[],"label_agreement":null},{"id":"W4213130664","doi":"10.1186/s13023-022-02241-9","title":"Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":8,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"The Marigold Foundation","funders":"Myotonic Dystrophy Foundation","keywords":"Medicine; Myotonic dystrophy; Health care; Indirect costs; Population; Health economics; Pharmacy; Pediatrics; Emergency medicine; Demography; Environmental health; Internal medicine; Public health; Family medicine; Business","score_opus":0.041733997292094975,"score_gpt":0.27627595261887944,"score_spread":0.23454195532678446,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4213130664","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9742255,0.00057936326,0.00005834845,0.0002020693,0.000012181574,0.000019366886,0.024038652,0.0000117724485,0.00085262343],"genre_scores_gemma":[0.985021,0.00026002032,0.000090983194,0.00009682099,0.000018650484,0.00003192994,0.014305627,0.0000033184392,0.0001716487],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99900323,0.00018796479,0.00024031299,0.00017080572,0.00022419337,0.00017345382],"domain_scores_gemma":[0.99596643,0.0005229964,0.0025872353,0.00011305748,0.00040892794,0.00040137823],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00096175564,0.00035785296,0.0004202488,0.0027172277,0.00038256188,0.0010414862,0.0005040265,0.0004230582,0.0016925402],"category_scores_gemma":[0.0037411884,0.00022340231,0.00081089674,0.004578687,0.00024807182,0.0005874128,0.0008428981,0.000653166,0.00029044427],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00005007806,0.000028301742,0.9979578,0.000020911466,0.00007930496,0.000041096242,0.000037111222,0.00015686009,0.000026740996,0.00002942935,0.0008634944,0.00070885645],"study_design_scores_gemma":[0.0000042518686,0.000025500825,0.9986236,0.000023788023,0.000031767933,0.00012243689,0.00016161516,0.0005731979,0.000022932354,0.000015310692,0.0003904984,0.0000050700205],"about_ca_topic_score_codex":0.05376178,"about_ca_topic_score_gemma":0.0538555,"teacher_disagreement_score":0.05376178,"about_ca_system_score_codex":0.0014688714,"about_ca_system_score_gemma":0.000921298,"threshold_uncertainty_score":0.10689771},"labels":[],"label_agreement":null},{"id":"W4214532076","doi":"10.1186/s13023-019-1157-7","title":"Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease","year":2019,"lang":"en","type":"erratum","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Calgary; Centre hospitalier de l'Université Laval; Western University","funders":"","keywords":"Myotonic dystrophy; Human genetics; Library science; Medicine; Pediatrics; Computer science; Genetics; Biology; Internal medicine","score_opus":0.017205727454352816,"score_gpt":0.2957187646681696,"score_spread":0.27851303721381676,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4214532076","genre_codex":"editorial","genre_gemma":"editorial","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"editorial","genre_consensus":"editorial","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.000584226,0.0010905009,0.0012623318,0.20657308,0.78390527,0.000030888696,0.0027916234,0.00043628123,0.0033257366],"genre_scores_gemma":[0.042727333,0.013475479,0.009235577,0.29459518,0.38646707,0.00035528437,0.009673802,0.0037874798,0.23968275],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9938659,0.0010962931,0.0012232886,0.00091702293,0.0022991062,0.00059838535],"domain_scores_gemma":[0.9485591,0.0198658,0.0037554896,0.0021738505,0.02297232,0.002673433],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004777559,0.0013763811,0.0012368814,0.0033767184,0.002853401,0.0040669455,0.0023539,0.0051847105,0.04849217],"category_scores_gemma":[0.09595056,0.0007690573,0.0010153184,0.0027196256,0.0018554659,0.0024412863,0.0022895313,0.011273624,0.022624291],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000019590883,0.000003973758,0.00017324123,0.000059447102,0.000007778734,0.00041584737,0.000086484055,0.000014343705,0.000020751422,0.0006883724,0.9943885,0.004121576],"study_design_scores_gemma":[0.000041123145,0.000020446934,0.0012989565,0.00072425517,0.000038868682,0.0029276512,0.00032331058,0.00018514745,0.0001760035,0.001647286,0.9925639,0.000053102325],"about_ca_topic_score_codex":0.023359582,"about_ca_topic_score_gemma":0.024559006,"teacher_disagreement_score":0.04849217,"about_ca_system_score_codex":0.0031334814,"about_ca_system_score_gemma":0.006912019,"threshold_uncertainty_score":0.16222245},"labels":[],"label_agreement":null},{"id":"W4214839780","doi":"10.1186/s13023-022-02260-6","title":"An international comparative analysis of public reimbursement of orphan drugs in Canadian provinces compared to European countries","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":20,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"London Health Sciences Centre; Novartis (Canada); University of Ottawa","funders":"Novartis Pharmaceuticals Canada; University of Ottawa","keywords":"Orphan drug; Reimbursement; Medicine; Family medicine; European union; Public health; Government (linguistics); Agency (philosophy); Health care; Business; Economic growth; International trade","score_opus":0.1655584470289624,"score_gpt":0.3975408938849036,"score_spread":0.2319824468559412,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4214839780","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.915082,0.012805413,0.00041979027,0.0023932015,0.000102075704,0.00017348482,0.022068135,0.000034345918,0.046921473],"genre_scores_gemma":[0.9923914,0.0021011017,0.00034064718,0.00032450623,0.00002107634,0.00002796249,0.0040182336,0.0000141483115,0.0007610644],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99118084,0.0009237841,0.00056202774,0.0007420794,0.004125196,0.0024660125],"domain_scores_gemma":[0.9781758,0.0027198987,0.004708608,0.00053413125,0.011591943,0.0022695651],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004793829,0.00041253946,0.00075357937,0.0094125355,0.0024572848,0.0032767914,0.0013387334,0.00063943054,0.0037167754],"category_scores_gemma":[0.019965414,0.00023263383,0.0012357227,0.022372592,0.0013775707,0.0006657369,0.0016064369,0.00068638206,0.000180463],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":true,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0014864695,0.00009753191,0.9449802,0.0005845152,0.0009430326,0.00040049167,0.0020432174,0.0013026646,0.00025676345,0.0050504454,0.008547358,0.03430734],"study_design_scores_gemma":[0.000077604534,0.00008010875,0.98311883,0.0002957001,0.00033609287,0.00021452775,0.0035307857,0.0005481994,0.00017189034,0.0001044316,0.011480555,0.000041122956],"about_ca_topic_score_codex":0.9820403,"about_ca_topic_score_gemma":0.9818559,"teacher_disagreement_score":0.9473273,"about_ca_system_score_codex":0.052672666,"about_ca_system_score_gemma":0.063711464,"threshold_uncertainty_score":0.38216877},"labels":[],"label_agreement":null},{"id":"W4214870022","doi":"10.1186/s13023-022-02220-0","title":"Rosai–Dorfman–Destombes disease of the nervous system: a systematic literature review","year":2022,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Histiocytic Disorders and Treatments","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children","funders":"National Institutes of Health; National Cancer Institute; Applebaum Foundation","keywords":"Medicine; Radiation therapy; Disease; Rosai–Dorfman disease; Histiocyte; Psychological intervention; Surgery; Pediatrics; Dermatology; Internal medicine; Pathology; Psychiatry","score_opus":0.021015644690779784,"score_gpt":0.29695101472105545,"score_spread":0.2759353700302757,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4214870022","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0030622825,0.99504894,0.00010740651,0.00024475477,0.00009639001,0.00028765682,0.0007659544,0.000008052652,0.00037862116],"genre_scores_gemma":[0.022703415,0.9746797,0.0005696052,0.0005102233,0.000108397064,0.0006698829,0.00058363745,0.000004627414,0.00017061192],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.9962101,0.0007214821,0.0018851703,0.0003984015,0.00060808734,0.00017688774],"domain_scores_gemma":[0.98497796,0.009099913,0.0037722695,0.00022094428,0.0016900004,0.00023883166],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0036176594,0.0012597848,0.0050032265,0.018462026,0.0007751191,0.0019493762,0.0014525874,0.001553738,0.004417885],"category_scores_gemma":[0.014385927,0.0006980098,0.0034590175,0.018020604,0.00072326843,0.002197371,0.0013318515,0.0005667131,0.00040340694],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00014925747,0.000021703303,0.0032945806,0.95833665,0.0040002437,0.0005069873,0.00025794713,0.00007633794,0.00025275932,0.00021055342,0.002578387,0.030314581],"study_design_scores_gemma":[0.00017663038,0.00021355224,0.0134461,0.91640246,0.041869756,0.0022689232,0.0006679681,0.0001010975,0.00021521792,0.0002690863,0.024322428,0.00004687225],"about_ca_topic_score_codex":0.0045726835,"about_ca_topic_score_gemma":0.013212095,"teacher_disagreement_score":0.018462026,"about_ca_system_score_codex":0.0025260937,"about_ca_system_score_gemma":0.0081785945,"threshold_uncertainty_score":0.019132257},"labels":[],"label_agreement":null},{"id":"W4220903373","doi":"10.1186/s13023-022-02273-1","title":"White matter is increased in the brains of adults with neurofibromatosis 1","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"BC Children's Hospital; Children's & Women's Health Centre of British Columbia; University of British Columbia","funders":"","keywords":"White matter; Grey matter; Brain size; Neurofibromatosis; Corpus callosum; Magnetic resonance imaging; Brain morphometry; Atrophy; Psychology; Medicine; Young adult; Voxel-based morphometry; Pathology; Internal medicine; Radiology","score_opus":0.009078217523328722,"score_gpt":0.228650425685483,"score_spread":0.21957220816215428,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4220903373","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9991315,0.00046811084,0.00004008046,0.000019147185,0.0000023649197,0.0000031065983,0.0001251968,0.0000072054104,0.00020322186],"genre_scores_gemma":[0.9992673,0.00025219438,0.00012238209,0.000026362392,0.000008563433,0.00000424504,0.00020324888,0.0000022045506,0.000113362534],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9999051,0.000013019563,0.000014046687,0.000028916642,0.000026058766,0.000012767159],"domain_scores_gemma":[0.99967253,0.000036710608,0.00021497092,0.000011205674,0.000034135945,0.000030450332],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00014022837,0.0002984685,0.00020767745,0.0008087199,0.00020437027,0.0002971134,0.00013279592,0.00025312498,0.0010305297],"category_scores_gemma":[0.0006573043,0.00015299341,0.00011573026,0.00032617227,0.00023713327,0.00026366182,0.00019727829,0.00012804761,0.00017622953],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00032745587,0.000039195427,0.9764265,0.00007938487,0.00007744023,0.0013064645,0.0005662162,0.0000614141,0.011735389,0.000029944666,0.0003586196,0.008992037],"study_design_scores_gemma":[0.0000026200446,0.000058740643,0.9970505,0.0000045235743,0.000010463252,0.002327511,0.00007494473,0.000023261407,0.00028522758,0.000013689394,0.00014699517,0.000001399072],"about_ca_topic_score_codex":0.0014787221,"about_ca_topic_score_gemma":0.0024091764,"teacher_disagreement_score":0.0014787221,"about_ca_system_score_codex":0.00014435123,"about_ca_system_score_gemma":0.000071437404,"threshold_uncertainty_score":0.003447473},"labels":[],"label_agreement":null},{"id":"W4220970115","doi":"10.1186/s13023-022-02195-y","title":"A cross-sectional study of gender differences in quality of life domains in patients with neurofibromatosis type 1","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Princess Margaret Cancer Centre; Toronto Rehabilitation Institute; University of Toronto; University Health Network","funders":"","keywords":"Quality of life (healthcare); Medicine; Neurofibromatosis; Cross-sectional study; Human physical appearance; Anxiety; Gerontology; Demography; Clinical psychology; Psychology; Developmental psychology; Psychiatry; Pathology","score_opus":0.04047167874948982,"score_gpt":0.2977543261429016,"score_spread":0.2572826473934118,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4220970115","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99933225,0.00013291549,0.0000313605,0.00002399472,0.000004762988,0.000011325496,0.000233648,9.392987e-7,0.00022874675],"genre_scores_gemma":[0.9994773,0.00006304206,0.000057590558,0.00004939143,0.000005775322,0.000017294888,0.00023122942,6.4734434e-7,0.00009779019],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.999522,0.0001264974,0.00005649183,0.000098476536,0.000101936,0.00009455442],"domain_scores_gemma":[0.99885595,0.00019989398,0.0004839204,0.000055446966,0.0001775254,0.00022729851],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00100941,0.00020871249,0.0003349239,0.0005670981,0.00055235496,0.000516122,0.00020253727,0.00033395496,0.0014985129],"category_scores_gemma":[0.0020943286,0.00026141453,0.00033728415,0.00075059826,0.00025042874,0.00049806497,0.00038742568,0.00044990497,0.00023214304],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000039474617,0.000030713385,0.99933076,0.000004184893,0.000012876666,0.000024442375,0.0001332567,0.0000036916301,0.00004317351,0.0000030653937,0.000036253146,0.0003380582],"study_design_scores_gemma":[0.000005329289,0.00015866218,0.9991014,0.000004441078,0.000010834177,0.00015974761,0.00041546643,0.000023774746,0.000013054114,0.0000044319095,0.00010104985,0.0000019608947],"about_ca_topic_score_codex":0.0081430245,"about_ca_topic_score_gemma":0.012799819,"teacher_disagreement_score":0.0081430245,"about_ca_system_score_codex":0.00040215268,"about_ca_system_score_gemma":0.0003799081,"threshold_uncertainty_score":0},"labels":[],"label_agreement":null},{"id":"W4220985907","doi":"10.1186/s13023-022-02202-2","title":"Psychometric study of the SF-36v2 in hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE)","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"St. Michael's Hospital","funders":"","keywords":"Hereditary angioedema; C1-inhibitor; Human genetics; Medicine; Pharmacology; Internal medicine; Angioedema; Chemistry; Dermatology; Biochemistry","score_opus":0.018720496675562873,"score_gpt":0.2690845341022822,"score_spread":0.25036403742671937,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4220985907","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99811745,0.0005106898,0.0003950276,0.00011427243,0.000020768286,0.000073403644,0.00018772329,0.0000059179224,0.00057465595],"genre_scores_gemma":[0.999159,0.00010478935,0.0003315356,0.000031826094,0.000008178155,0.00003619569,0.0002400277,0.000002925836,0.00008557578],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9960014,0.002012779,0.0003853772,0.000229845,0.0011589297,0.00021155119],"domain_scores_gemma":[0.9931753,0.0036382282,0.0015135874,0.00026392186,0.0010037048,0.00040524345],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.009958673,0.00046308074,0.0005265117,0.000877761,0.00021998379,0.0007242409,0.0003364248,0.0004755258,0.000900944],"category_scores_gemma":[0.024759306,0.00021059431,0.0012207888,0.0010961107,0.00050298235,0.00044479483,0.00084055046,0.00075387745,0.0001506507],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00052754016,0.0003147774,0.97088325,0.00015251093,0.00038410706,0.00014239083,0.0014190597,0.000984609,0.00055865326,0.00010265038,0.00047882993,0.024051562],"study_design_scores_gemma":[0.00005367724,0.0011546224,0.9953341,0.000068624315,0.00006552519,0.0003383646,0.0005519056,0.0015839876,0.00015699412,0.00006623856,0.0006111655,0.000014873283],"about_ca_topic_score_codex":0.0020171902,"about_ca_topic_score_gemma":0.0013217322,"teacher_disagreement_score":0.009958673,"about_ca_system_score_codex":0.0004547464,"about_ca_system_score_gemma":0.0005144523,"threshold_uncertainty_score":0.05266708},"labels":[],"label_agreement":null},{"id":"W4221059804","doi":"10.1186/s13023-022-02297-7","title":"Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia","year":2022,"lang":"en","type":"erratum","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":false,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Ottawa Hospital; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"","keywords":"Spinocerebellar ataxia; Missense mutation; Genetics; Human genetics; Mutation; Ataxia; Medicine; Biology; Neuroscience; Gene","score_opus":0.01858385780122086,"score_gpt":0.28029564023233855,"score_spread":0.2617117824311177,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4221059804","genre_codex":"editorial","genre_gemma":"other","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00028749244,0.00079473405,0.0006211126,0.026323589,0.9689331,0.00002664436,0.00084600935,0.00033105395,0.0018361927],"genre_scores_gemma":[0.026859095,0.008591237,0.0098613165,0.06563112,0.63814193,0.00035088797,0.0041222367,0.0023469187,0.2440953],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.99809724,0.00018254636,0.00032218598,0.0003252317,0.00077785825,0.000294834],"domain_scores_gemma":[0.9915953,0.0022595243,0.00061376864,0.0005187427,0.0040755784,0.0009371618],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0015224164,0.0027079491,0.0022860223,0.0029910181,0.0020904269,0.002798544,0.0033620095,0.0087492205,0.06673985],"category_scores_gemma":[0.019650415,0.0012908182,0.0019968695,0.0013814436,0.001760287,0.0015190402,0.0015268051,0.008839744,0.02928405],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000058867932,0.000010681265,0.000102054066,0.00018948132,0.000026639713,0.0029118794,0.000017992803,0.00007594001,0.00015817676,0.00043929863,0.9896818,0.006327182],"study_design_scores_gemma":[0.00018721029,0.00004539879,0.0011853378,0.00035823384,0.0001183619,0.008703814,0.00007572922,0.0005810632,0.00088420796,0.0013449319,0.986451,0.00006461643],"about_ca_topic_score_codex":0.0086462945,"about_ca_topic_score_gemma":0.009848252,"teacher_disagreement_score":0.06673985,"about_ca_system_score_codex":0.0023051668,"about_ca_system_score_gemma":0.0025913701,"threshold_uncertainty_score":0.22326708},"labels":[],"label_agreement":null},{"id":"W4224295976","doi":"10.1186/s13023-022-02322-9","title":"Gastrointestinal Kohlmeier–Degos disease: a narrative review","year":2022,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Parvovirus B19 Infection Studies","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Medicine; Perforation; Gastrointestinal tract; Abdominal pain; Gastroenterology; Internal medicine; Gastrointestinal perforation; Gastrointestinal bleeding; Pathology","score_opus":0.06431032630612532,"score_gpt":0.3786014049666633,"score_spread":0.31429107866053796,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4224295976","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0011664502,0.99616677,0.00013011668,0.00073060964,0.00038392152,0.0000139722215,0.00006257044,0.000013420101,0.0013321153],"genre_scores_gemma":[0.011144451,0.98582053,0.0002908966,0.0008157231,0.0013316242,0.000023063038,0.00014824554,0.0000041304306,0.00042139695],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9997451,0.0000306901,0.000082511484,0.00005928254,0.00005451695,0.000028074055],"domain_scores_gemma":[0.99913967,0.00035643816,0.0002958041,0.000021249527,0.00010428041,0.00008237466],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00036658798,0.0009665092,0.0010201392,0.006203326,0.0005532905,0.0014045374,0.0008759767,0.0011618835,0.004446448],"category_scores_gemma":[0.0013620509,0.0002858023,0.0006089175,0.0052122893,0.0006708781,0.002234404,0.00085191464,0.0011579065,0.0009824506],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00022660376,0.00014989197,0.011597146,0.11371576,0.00050382764,0.022041168,0.0007449506,0.0006946604,0.002104588,0.0061697084,0.12918794,0.71286374],"study_design_scores_gemma":[0.00004305527,0.00014684213,0.013078521,0.06190341,0.00094159145,0.17193308,0.0010944862,0.00040033765,0.00054297975,0.0032332947,0.7465831,0.00009926298],"about_ca_topic_score_codex":0.00097094546,"about_ca_topic_score_gemma":0.0013448917,"teacher_disagreement_score":0.006203326,"about_ca_system_score_codex":0.0006062441,"about_ca_system_score_gemma":0.0015758715,"threshold_uncertainty_score":0.014874876},"labels":[],"label_agreement":null},{"id":"W4241053378","doi":"10.1186/1750-1172-2-15","title":"Cirrhotic cardiomyopathy","year":2007,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Liver Disease and Transplantation","field":"Medicine","cited_by":149,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Calgary","funders":"Canadian Institutes of Health Research","keywords":"Medicine; Cardiology; Cardiomyopathy; Internal medicine; Heart failure; Restrictive cardiomyopathy; Cirrhosis; Dilated cardiomyopathy; Liver transplantation; Diastole; Transplantation; Blood pressure","score_opus":0.038971955444810025,"score_gpt":0.3308049496195045,"score_spread":0.2918329941746945,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4241053378","genre_codex":"other","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.28849104,0.2760869,0.010864573,0.013254624,0.005774045,0.0015092548,0.010218349,0.0013540734,0.39244714],"genre_scores_gemma":[0.8645677,0.04986648,0.0050126743,0.010432128,0.003993894,0.0004854437,0.010752054,0.00014829927,0.054741364],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9996208,0.00006496658,0.00004904683,0.00004561459,0.00008520562,0.00013427334],"domain_scores_gemma":[0.99953103,0.00007274661,0.00012928034,0.000028390237,0.00010237884,0.00013624078],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00020940516,0.0005090631,0.0007830025,0.00071076554,0.00095623656,0.0006469326,0.00020328272,0.0005429835,0.0192948],"category_scores_gemma":[0.0009785406,0.00008988995,0.0004897731,0.0007220667,0.00030700988,0.00035323194,0.0005845365,0.0009570705,0.0044252235],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0024043529,0.0006730915,0.2683503,0.0052458425,0.0003660282,0.05167514,0.00067485514,0.00046457065,0.008930362,0.007864822,0.17754135,0.47580934],"study_design_scores_gemma":[0.00032475585,0.00091114995,0.2775145,0.003964916,0.0003965447,0.15469164,0.0007846869,0.00090064114,0.0021737653,0.006844494,0.551321,0.00017192775],"about_ca_topic_score_codex":0.0017373543,"about_ca_topic_score_gemma":0.002054857,"teacher_disagreement_score":0.0192948,"about_ca_system_score_codex":0.0004033062,"about_ca_system_score_gemma":0.00060430664,"threshold_uncertainty_score":0.06454754},"labels":[],"label_agreement":null},{"id":"W4246369835","doi":"10.1186/1750-1172-1-25","title":"Hypersensitivity pneumonitis","year":2006,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","field":"Medicine","cited_by":77,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Université Laval","funders":"","keywords":"Medicine; Hypersensitivity pneumonitis; Bronchoalveolar lavage; Interstitial lung disease; Pulmonary function testing; High-resolution computed tomography; Lung biopsy; Population; Incidence (geometry); Lung; Immunology; Internal medicine; Gastroenterology","score_opus":0.02321601943887589,"score_gpt":0.3025578664805229,"score_spread":0.279341847041647,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4246369835","genre_codex":"other","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.12596087,0.39314818,0.016666243,0.014736022,0.004514061,0.0029329215,0.012976607,0.0023131582,0.42675188],"genre_scores_gemma":[0.7699545,0.11367339,0.005639823,0.01867509,0.0033902216,0.0007477054,0.007299069,0.00016520974,0.08045505],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.99765503,0.00056477403,0.0003173735,0.00031087303,0.0007896907,0.00036218378],"domain_scores_gemma":[0.9975594,0.00057162193,0.00077483297,0.00017981754,0.0006855336,0.00022868616],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009242416,0.001010839,0.0014062364,0.0014127245,0.00082214584,0.0014212669,0.0006258923,0.001464935,0.023416465],"category_scores_gemma":[0.0039042635,0.00023014854,0.0011523552,0.0014934323,0.00076823955,0.0009868813,0.0008937845,0.0017018011,0.0077657257],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010358209,0.0012151384,0.17733462,0.0099206595,0.0008492196,0.061749097,0.0010236268,0.0005041445,0.012420153,0.012552603,0.19456767,0.52682734],"study_design_scores_gemma":[0.00020253229,0.0010168144,0.15247706,0.003927496,0.0004421923,0.24012178,0.00055784435,0.0003863559,0.0044930987,0.005093033,0.5911545,0.00012725548],"about_ca_topic_score_codex":0.0017370633,"about_ca_topic_score_gemma":0.0012945844,"teacher_disagreement_score":0.023416465,"about_ca_system_score_codex":0.0007322873,"about_ca_system_score_gemma":0.0007485347,"threshold_uncertainty_score":0.07833588},"labels":[],"label_agreement":null},{"id":"W4246751972","doi":"10.1186/s13023-019-1080-y","title":"Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance","year":2019,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":65,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Montreal Children's Hospital; Hospital for Sick Children","funders":"BioMarin Pharmaceutical; Hospital de Clínicas de Porto Alegre; National MPS Society; University of Pretoria; Universidade Federal do Rio Grande do Sul; McGill University","keywords":"Human genetics; MEDLINE; Medicine; Computer science; Computational biology; Political science; Biology; Genetics; Law","score_opus":0.04870964304760695,"score_gpt":0.3400962006975569,"score_spread":0.29138655764995,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4246751972","genre_codex":"commentary","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0054863323,0.3598796,0.06796573,0.47059616,0.017748896,0.048673093,0.006320532,0.0011600235,0.022169683],"genre_scores_gemma":[0.053997006,0.32189435,0.49322692,0.053258467,0.0032572707,0.058283377,0.009349588,0.000302435,0.0064305784],"study_design_codex":"design_other","study_design_gemma":"systematic_review","domain_scores_codex":[0.7776856,0.14064898,0.05204046,0.0045638094,0.021702249,0.0033589879],"domain_scores_gemma":[0.58247703,0.2508192,0.050839256,0.0076912227,0.096749656,0.011423652],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.17174564,0.0035992377,0.0078108725,0.023867266,0.0031178247,0.0096460935,0.011972797,0.014210737,0.008088017],"category_scores_gemma":[0.3887976,0.0030297975,0.012220358,0.013823444,0.0043277834,0.009744641,0.010975658,0.011833941,0.003688289],"study_design_candidate":"systematic_review","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00044612377,0.00031369366,0.002174752,0.3121292,0.0022970825,0.0007223701,0.008886171,0.0038883712,0.00053477543,0.012224366,0.24244896,0.41393417],"study_design_scores_gemma":[0.0006686273,0.00014457626,0.0014886624,0.783373,0.0021665127,0.00028774285,0.0025679243,0.0017488151,0.00032166103,0.017085012,0.18993932,0.00020812747],"about_ca_topic_score_codex":0.015914978,"about_ca_topic_score_gemma":0.019910198,"teacher_disagreement_score":0.17174564,"about_ca_system_score_codex":0.017051224,"about_ca_system_score_gemma":0.08408636,"threshold_uncertainty_score":0.9082886},"labels":[],"label_agreement":null},{"id":"W4282586494","doi":"10.1186/s13023-022-02390-x","title":"Health technology assessment and price negotiation alignment for rare disorder drugs in Canada: Who benefits?","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":10,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Saskatoon Medical Imaging; Mining Association of Canada; Saskatchewan Health Authority; Canadian Institute for Health Information","funders":"","keywords":"Negotiation; Medicine; Government (linguistics); Orphan drug; Public economics; Alliance; Business; Finance; Economics; Bioinformatics; Political science; Law","score_opus":0.07757192455165118,"score_gpt":0.36004137191721985,"score_spread":0.28246944736556867,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4282586494","genre_codex":"review","genre_gemma":"empirical","domain_codex":null,"domain_gemma":"evaluation","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":"evaluation","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.043479647,0.47453406,0.0059912447,0.36949587,0.0031934006,0.0018031147,0.010457333,0.00042018032,0.0906252],"genre_scores_gemma":[0.5507478,0.31128207,0.05185365,0.06403564,0.002668413,0.0014721564,0.009257366,0.0003002301,0.008382829],"study_design_codex":"design_other","study_design_gemma":"observational","domain_scores_codex":[0.91542685,0.02025205,0.008933536,0.0029426077,0.047978725,0.0044662906],"domain_scores_gemma":[0.6035225,0.09202758,0.04595717,0.0053782566,0.23409459,0.019019974],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.059021275,0.00072061655,0.0014496807,0.0084312875,0.003812804,0.009432667,0.0031823535,0.002470622,0.005295328],"category_scores_gemma":[0.21835539,0.0006858746,0.002420704,0.015424155,0.0024416277,0.0040322193,0.0029048906,0.0040157973,0.0005075444],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":true,"about_ca_system_consensus":true,"study_design_scores_codex":[0.00094793364,0.0002620107,0.091791146,0.03963349,0.0022572114,0.00048233857,0.0042339815,0.0047398494,0.0010483132,0.022259178,0.18129662,0.65104795],"study_design_scores_gemma":[0.0006003761,0.0005759695,0.3484176,0.061253846,0.002693007,0.0005944735,0.0042860485,0.004527039,0.001800268,0.006914562,0.5678426,0.0004942003],"about_ca_topic_score_codex":0.9351473,"about_ca_topic_score_gemma":0.9603802,"teacher_disagreement_score":0.9409787,"about_ca_system_score_codex":0.13828936,"about_ca_system_score_gemma":0.4034375,"threshold_uncertainty_score":0.9994622},"labels":[],"label_agreement":null},{"id":"W4283072735","doi":"10.1186/s13023-022-02359-w","title":"Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":89,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Foothills Medical Centre; University of Alberta","funders":"Pfizer","keywords":"Transthyretin; Amyloidosis; Human genetics; Medicine; Genetic testing; Internal medicine; Pediatrics; Bioinformatics; Genetics; Biology; Gene","score_opus":0.01297145939049064,"score_gpt":0.28035816160513116,"score_spread":0.2673867022146405,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4283072735","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9058264,0.03842072,0.0010063199,0.0020783478,0.0002270897,0.00013135787,0.045125067,0.00014270407,0.0070419884],"genre_scores_gemma":[0.93956107,0.022615379,0.00091240136,0.0006649107,0.00030399385,0.00017106163,0.035109617,0.000020532889,0.0006411298],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99922407,0.00015858574,0.00019181502,0.0001451565,0.00019865288,0.00008170764],"domain_scores_gemma":[0.9972364,0.0005003906,0.0010956525,0.00007490239,0.0007911266,0.00030154534],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0011227962,0.00038818727,0.0007354502,0.002599197,0.0002573291,0.00072454335,0.0005300405,0.0006263613,0.001018062],"category_scores_gemma":[0.0029112715,0.00020547402,0.0005078781,0.0035590255,0.0001900493,0.0012164586,0.00045530158,0.00046510066,0.00037073277],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00007619908,0.000042233423,0.98256,0.00010029007,0.000090557965,0.000084217536,0.000058066584,0.00006931696,0.0000534962,0.000030991094,0.0034521006,0.013382618],"study_design_scores_gemma":[0.000011732201,0.000048742786,0.9960557,0.00012979521,0.00006372597,0.00039061226,0.00014625522,0.00014957556,0.000032089025,0.00004039594,0.0029229682,0.000008260422],"about_ca_topic_score_codex":0.0064610983,"about_ca_topic_score_gemma":0.008760874,"teacher_disagreement_score":0.0064610983,"about_ca_system_score_codex":0.0004097555,"about_ca_system_score_gemma":0.0004942731,"threshold_uncertainty_score":0.012846947},"labels":[],"label_agreement":null},{"id":"W4283166156","doi":"10.1186/s13023-022-02392-9","title":"Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry","year":2022,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":74,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Dalhousie University","funders":"Takeda Pharmaceuticals International; Takeda Development Center Americas","keywords":"Natural history; Fabry disease; Medicine; Enzyme replacement therapy; Observational study; Natural history study; Disease; Adverse effect; Pediatrics; Intensive care medicine; Family medicine; Internal medicine","score_opus":0.1131753489403406,"score_gpt":0.376820963862312,"score_spread":0.2636456149219714,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4283166156","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.25828293,0.48773336,0.01661315,0.15569687,0.0044397777,0.00061047444,0.055959884,0.00051003374,0.02015348],"genre_scores_gemma":[0.60126626,0.2947311,0.018672084,0.0241153,0.007852482,0.0012469216,0.04956779,0.0004051827,0.002142888],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9779904,0.012352513,0.0042858697,0.0017435134,0.0028922132,0.00073540903],"domain_scores_gemma":[0.8479929,0.07726325,0.031087391,0.014516449,0.023202928,0.005937032],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.06358521,0.00064859755,0.0013708371,0.005579243,0.0005613358,0.003535839,0.0011299325,0.0013862831,0.0015094387],"category_scores_gemma":[0.08349099,0.0004755725,0.0011116983,0.012939929,0.0014365427,0.005011554,0.0031149078,0.0022313304,0.00042016926],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0012374191,0.00014088306,0.5005427,0.004940461,0.0012940854,0.0005930328,0.0035259898,0.0011986272,0.00030400726,0.0113594895,0.07695007,0.39791325],"study_design_scores_gemma":[0.0002601615,0.0009996982,0.60964465,0.015427699,0.0015388018,0.0015457913,0.0037144287,0.001280586,0.0010111964,0.006616153,0.35770714,0.00025374038],"about_ca_topic_score_codex":0.005466674,"about_ca_topic_score_gemma":0.0041650673,"teacher_disagreement_score":0.06358521,"about_ca_system_score_codex":0.0021593156,"about_ca_system_score_gemma":0.0065854345,"threshold_uncertainty_score":0.33627474},"labels":[],"label_agreement":null},{"id":"W4284884351","doi":"10.1186/s13023-022-02397-4","title":"HTA decision-making for drugs for rare diseases: comparison of processes across countries","year":2022,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":37,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of Alberta","funders":"University of Alberta; Roche","keywords":"Reimbursement; Medicine; Stakeholder; Nice; Government (linguistics); Public economics; Cost–benefit analysis; Health technology; Economic evaluation; Health care; Actuarial science; Environmental health; Business; Economic growth; Public relations; Economics; Political science","score_opus":0.2728883510014715,"score_gpt":0.4981855708286844,"score_spread":0.2252972198272129,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4284884351","genre_codex":"empirical","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.6736441,0.16163364,0.026213115,0.030649465,0.0009441903,0.01117185,0.0042172936,0.0003389206,0.0911874],"genre_scores_gemma":[0.94621783,0.026445692,0.020987283,0.0022809282,0.00008682476,0.0022536418,0.00087383314,0.000069661204,0.0007842998],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.79041576,0.17566861,0.0139578525,0.0037647302,0.011588849,0.0046043107],"domain_scores_gemma":[0.56337065,0.37558007,0.03019104,0.0055699567,0.021119457,0.0041688173],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.12526062,0.0006055589,0.0015827261,0.0041577457,0.0023917868,0.011088259,0.0019429306,0.002028159,0.005668572],"category_scores_gemma":[0.28186983,0.0006994132,0.0048808455,0.0056208973,0.0025548476,0.0050706756,0.0058428464,0.0023925048,0.00052927615],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.008177295,0.0010214876,0.11897232,0.061202582,0.0064911726,0.0009560164,0.063179605,0.023339663,0.0006408592,0.03658928,0.013553236,0.6658765],"study_design_scores_gemma":[0.007924942,0.008525009,0.32095242,0.1802862,0.017212091,0.0022472437,0.16760133,0.030013347,0.005694393,0.05822105,0.20011614,0.0012058681],"about_ca_topic_score_codex":0.035598993,"about_ca_topic_score_gemma":0.027744533,"teacher_disagreement_score":0.12526062,"about_ca_system_score_codex":0.015596468,"about_ca_system_score_gemma":0.039201338,"threshold_uncertainty_score":0.66244936},"labels":[],"label_agreement":null},{"id":"W4285009297","doi":"10.1186/s13023-022-02401-x","title":"Correction: Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019","year":2022,"lang":"en","type":"erratum","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":false,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"The Marigold Foundation","funders":"","keywords":"Myotonic dystrophy; Health care; Actuarial science; Health insurance; Medicine; Health economics; Human genetics; Business; Genetics; Internal medicine; Economics; Biology; Economic growth","score_opus":0.03744246202808887,"score_gpt":0.2765038734065688,"score_spread":0.23906141137847992,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4285009297","genre_codex":"editorial","genre_gemma":"other","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0013494856,0.0022811936,0.0009774104,0.123038225,0.7550571,0.0001289191,0.11041944,0.0008014542,0.005946787],"genre_scores_gemma":[0.11695217,0.017947266,0.01279251,0.1663375,0.25986144,0.002352886,0.1884799,0.0044360845,0.23084012],"study_design_codex":"not_applicable","study_design_gemma":"observational","domain_scores_codex":[0.9947417,0.00086289365,0.0012403623,0.00067823444,0.0019657696,0.00051109603],"domain_scores_gemma":[0.95347995,0.01567201,0.00413964,0.002199893,0.022872781,0.0016357012],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0066461256,0.0020728942,0.0016772978,0.004576401,0.0016692836,0.0030875423,0.0036575363,0.0036160443,0.074517064],"category_scores_gemma":[0.11906584,0.0011863908,0.002640059,0.0069106515,0.0011116422,0.0022943965,0.0017627496,0.007063565,0.021624703],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0000320024,0.0000032559935,0.0005836163,0.00018754156,0.000024038582,0.00006176589,0.000020600897,0.000048277416,0.000007568001,0.00026385195,0.9965238,0.002243743],"study_design_scores_gemma":[0.0006008955,0.000054239008,0.025334826,0.005002146,0.0003722922,0.0011587166,0.000556518,0.0012567727,0.0003541249,0.0028877265,0.96222,0.00020185589],"about_ca_topic_score_codex":0.09448394,"about_ca_topic_score_gemma":0.07516598,"teacher_disagreement_score":0.09448394,"about_ca_system_score_codex":0.003607046,"about_ca_system_score_gemma":0.010611351,"threshold_uncertainty_score":0.24928445},"labels":[],"label_agreement":null},{"id":"W4285793888","doi":"10.1186/s13023-022-02415-5","title":"Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University; McGill University Health Centre; North York General Hospital; Montreal Children's Hospital; University of Toronto","funders":"","keywords":"Phenotype; Biology; Hypotonia; Zellweger syndrome; Genetics; Disease; Peroxisomal disorder; Genotype; Gene; Bioinformatics; Peroxisome; Pathology; Medicine","score_opus":0.004378957315419436,"score_gpt":0.21228686584590573,"score_spread":0.2079079085304863,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4285793888","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99508494,0.0005011262,0.0037464534,0.000036859135,0.0000030480153,0.000014372543,0.0002787821,0.00004234429,0.00029202015],"genre_scores_gemma":[0.99628663,0.00020237206,0.003028455,0.000011695313,0.000002805478,0.000010492762,0.0003867405,0.000009967753,0.000060696046],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9997266,0.000057020305,0.000043658238,0.00008325176,0.00006797364,0.000021524113],"domain_scores_gemma":[0.9995789,0.00020362352,0.00013643924,0.000029259952,0.000022742515,0.000028970848],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000530746,0.00074880285,0.00033165407,0.0008285378,0.00023741448,0.00046532525,0.00040554014,0.00049453793,0.0021444529],"category_scores_gemma":[0.0010515042,0.00013328242,0.00044638917,0.0007413187,0.00029981692,0.00024280952,0.0006122771,0.00029202638,0.00023354522],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0020416041,0.00022320777,0.73208773,0.0005077577,0.0010080696,0.010895508,0.0003452991,0.024960253,0.1809251,0.002006718,0.00039884818,0.044599902],"study_design_scores_gemma":[0.00020942469,0.00064818736,0.80873984,0.00018861628,0.0009423838,0.0357482,0.00034362014,0.05794098,0.08569757,0.0061620357,0.0032803635,0.000098806144],"about_ca_topic_score_codex":0.00039907495,"about_ca_topic_score_gemma":0.0004324581,"teacher_disagreement_score":0.0021444529,"about_ca_system_score_codex":0.00020172993,"about_ca_system_score_gemma":0.00023559,"threshold_uncertainty_score":0.007173896},"labels":[],"label_agreement":null},{"id":"W4285798676","doi":"10.1186/s13023-022-02414-6","title":"Global epidemiology of amyloid light-chain amyloidosis","year":2022,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":95,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Takeda Development Center Americas","keywords":"Epidemiology; Incidence (geometry); Medicine; European union; Amyloidosis; Population; Disease; Demography; Environmental health; Pediatrics; Pathology","score_opus":0.03388185797974123,"score_gpt":0.3340690921054618,"score_spread":0.30018723412572057,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4285798676","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.30974823,0.62760824,0.0067003435,0.005763844,0.000377794,0.0003077516,0.03940536,0.00015015244,0.009938388],"genre_scores_gemma":[0.76608455,0.22021925,0.0040294267,0.0009804725,0.00027747365,0.00023444128,0.007836976,0.00003281288,0.00030465308],"study_design_codex":"observational","study_design_gemma":"not_applicable","domain_scores_codex":[0.9972492,0.00088317454,0.0007215008,0.0005789184,0.00045589704,0.00011134116],"domain_scores_gemma":[0.99071723,0.002864132,0.00393199,0.00039531596,0.0018151683,0.0002762154],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0037322931,0.00047395236,0.00084489555,0.0071713454,0.00016461858,0.001174076,0.00037105542,0.00035050022,0.001333925],"category_scores_gemma":[0.00973416,0.00024098568,0.0019004667,0.00969786,0.00044615543,0.0011908953,0.0009824234,0.0005425833,0.00017538197],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00014289918,0.000022466289,0.8802212,0.020625068,0.007194261,0.000387041,0.0010816434,0.0019772977,0.0004418617,0.0023101545,0.00605986,0.07953638],"study_design_scores_gemma":[0.000059159975,0.00022555114,0.90290064,0.021238113,0.008819811,0.003071601,0.0018787596,0.001535258,0.0005021748,0.003842538,0.055858158,0.000068186615],"about_ca_topic_score_codex":0.0059225624,"about_ca_topic_score_gemma":0.0060961605,"teacher_disagreement_score":0.0071713454,"about_ca_system_score_codex":0.0007250911,"about_ca_system_score_gemma":0.0018125311,"threshold_uncertainty_score":0.019738495},"labels":[],"label_agreement":null},{"id":"W4285799390","doi":"10.1186/s13023-022-02393-8","title":"Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Alkaline Phosphatase Research Studies","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Manitoba","funders":"Alexion Pharmaceuticals; AstraZeneca","keywords":"Medicine; Hypophosphatasia; Enzyme replacement therapy; Young adult; Pediatrics; Internal medicine; Confidence interval; Disease; Alkaline phosphatase","score_opus":0.01832541332619085,"score_gpt":0.3222938157682336,"score_spread":0.30396840244204276,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4285799390","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9977029,0.00025179356,0.0000673784,0.000053874042,0.0000036170168,0.000016823136,0.0013864716,0.000005399793,0.00051175436],"genre_scores_gemma":[0.9980691,0.000166336,0.000059750106,0.00004648712,0.000006794302,0.00002339667,0.0015672909,0.0000029752819,0.00005795283],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9989147,0.00034607813,0.00016860066,0.00020362702,0.00022921558,0.00013775886],"domain_scores_gemma":[0.9974974,0.0003379652,0.0014930443,0.00012642563,0.0002275416,0.00031752256],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00115795,0.0001547219,0.00040216304,0.0010733502,0.00025776227,0.0006710568,0.00032785893,0.00030358753,0.0010917275],"category_scores_gemma":[0.00326457,0.00014653646,0.00032630385,0.0018548532,0.0003273383,0.00059429667,0.0006841466,0.00030361908,0.00015671104],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00006356505,0.00001259375,0.9988417,0.00001207798,0.000017472872,0.000095418436,0.0000888438,0.000018675975,0.00006114006,0.00001814993,0.00013736481,0.0006330196],"study_design_scores_gemma":[0.0000070426618,0.000079931364,0.9984993,0.000010909927,0.000016819906,0.00064604543,0.00040131554,0.00007438551,0.000033638964,0.000016680562,0.00021071042,0.0000031835502],"about_ca_topic_score_codex":0.0036687984,"about_ca_topic_score_gemma":0.003536434,"teacher_disagreement_score":0.0036687984,"about_ca_system_score_codex":0.000286318,"about_ca_system_score_gemma":0.0004361843,"threshold_uncertainty_score":0.0072948337},"labels":[],"label_agreement":null},{"id":"W4289755092","doi":"10.1186/s13023-022-02409-3","title":"Incidence of thrombotic microangiopathies in Quebec: insight from a laboratory centralizing ADAMTS-13 testing","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Complement system in diseases","field":"Immunology and Microbiology","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Hôpital du Sacré-Cœur de Montréal; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Alexion Pharmaceuticals; Sanofi Genzyme; Sanofi","keywords":"Incidence (geometry); ADAMTS; Medicine; Intensive care medicine; Immunology; Internal medicine; Metalloproteinase","score_opus":0.016148793805312842,"score_gpt":0.24071642726377637,"score_spread":0.22456763345846353,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4289755092","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9760098,0.004649685,0.0006464798,0.00093969266,0.00003535216,0.000052357896,0.011257938,0.000056992983,0.0063517727],"genre_scores_gemma":[0.99685234,0.0008196368,0.0002527944,0.000074510695,0.000012668296,0.000008914321,0.001595013,0.000005541969,0.00037864991],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9989801,0.00013171579,0.00007915079,0.00016677324,0.00044838642,0.00019382563],"domain_scores_gemma":[0.994892,0.0004916467,0.0017595887,0.00015364091,0.0021552814,0.0005478437],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008591687,0.0003083219,0.00032131,0.0020769404,0.0008787228,0.001243907,0.0010853963,0.00044982586,0.002459137],"category_scores_gemma":[0.0040414697,0.000203602,0.0004926353,0.0031585041,0.0004556978,0.00042502925,0.0004559981,0.0006279267,0.00019210327],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000026679538,0.000009044342,0.99610496,0.000018089915,0.000035268986,0.000045733308,0.000065480264,0.00017252313,0.00006378919,0.000046819718,0.0006332143,0.0027784193],"study_design_scores_gemma":[0.000004169748,0.0000143143925,0.9982986,0.000026985063,0.000020966181,0.00014557633,0.00012728503,0.0006557774,0.000033523418,0.000012048869,0.00065463234,0.0000060416237],"about_ca_topic_score_codex":0.976544,"about_ca_topic_score_gemma":0.97136873,"teacher_disagreement_score":0.023455977,"about_ca_system_score_codex":0.017217683,"about_ca_system_score_gemma":0.009219766,"threshold_uncertainty_score":0.12492359},"labels":[],"label_agreement":null},{"id":"W4291168653","doi":"10.1186/s13023-022-02461-z","title":"A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Shire","keywords":"Medicine; Observational study; Epidermolysis bullosa; Tolerability; Quality of life (healthcare); Prospective cohort study; Disease; Severity of illness; Clinical trial; Surgery; Physical therapy; Internal medicine; Dermatology; Adverse effect","score_opus":0.026441060819365255,"score_gpt":0.3598801488651944,"score_spread":0.33343908804582917,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4291168653","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99723524,0.000657634,0.0006432806,0.000037099348,0.000026476011,0.00081270415,0.00021493675,0.000009302005,0.00036325617],"genre_scores_gemma":[0.9932602,0.00024099016,0.0024419567,0.000181483,0.00008697822,0.00247463,0.0008671965,0.0000051880015,0.00044130092],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9979658,0.0011707548,0.00021447151,0.00024912678,0.00027630816,0.00012346332],"domain_scores_gemma":[0.9915563,0.0020954509,0.0030771026,0.00090742373,0.0010802393,0.0012835687],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.007512952,0.00069806766,0.0007540704,0.0004776141,0.00064377027,0.00063158886,0.00045679288,0.0007135695,0.001706477],"category_scores_gemma":[0.0071027176,0.00033161262,0.0006286411,0.00049519906,0.0005346146,0.00095711515,0.0006129362,0.0009599078,0.0005269771],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.07917975,0.01769258,0.8639822,0.00032010488,0.00073440466,0.00018066911,0.00035618892,0.0002801182,0.0057698456,0.00007157213,0.00039270788,0.03103988],"study_design_scores_gemma":[0.010312001,0.30877054,0.67661375,0.000056596622,0.0004674051,0.0004586837,0.00026461255,0.00056514103,0.001000717,0.00007866405,0.0013735312,0.000038359376],"about_ca_topic_score_codex":0.00045730092,"about_ca_topic_score_gemma":0.00074504036,"teacher_disagreement_score":0.007512952,"about_ca_system_score_codex":0.00038978088,"about_ca_system_score_gemma":0.00084154744,"threshold_uncertainty_score":0.039732814},"labels":[],"label_agreement":null},{"id":"W4293176172","doi":"10.1186/s13023-022-02493-5","title":"Development of algorithms to identify individuals with Neurofibromatosis type 1 within administrative data and electronic medical records in Ontario, Canada","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Toronto Western Hospital; Hospital for Sick Children; Institute for Clinical Evaluative Sciences; University Health Network; SickKids Foundation; University of Toronto; Toronto General Hospital; North York General Hospital; Toronto Rehabilitation Institute","funders":"U.S. Department of Defense","keywords":"Medical record; Diagnosis code; Neurofibromatosis; Population; Algorithm; Medicine; Medical diagnosis; Family medicine; Health care; Pediatrics; Computer science; Internal medicine; Pathology; Political science","score_opus":0.03296639945423093,"score_gpt":0.30027496378700463,"score_spread":0.2673085643327737,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4293176172","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.7305438,0.0029316666,0.15208866,0.00563481,0.00021434267,0.007265978,0.067106135,0.0063313493,0.02788328],"genre_scores_gemma":[0.6692917,0.0009807115,0.28671208,0.00061284506,0.00003739338,0.0013575677,0.037323635,0.00020134766,0.0034827322],"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","domain_scores_codex":[0.9969965,0.0005336794,0.00055767316,0.0006588261,0.00082127337,0.00043206062],"domain_scores_gemma":[0.9847423,0.0041879667,0.0011042596,0.0004790929,0.009006935,0.00047949742],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0046459544,0.00079380476,0.0008802497,0.0062815533,0.0018445775,0.0033442494,0.0021300593,0.00077112566,0.0024535297],"category_scores_gemma":[0.028700318,0.0005248912,0.00084070506,0.005710154,0.0005030687,0.0010506376,0.0014831213,0.0005272261,0.0007152362],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00044988006,0.00021857362,0.7022894,0.00049436116,0.00030968065,0.00048137244,0.0010205515,0.029649979,0.0012917871,0.002914065,0.03414505,0.22673534],"study_design_scores_gemma":[0.00040688523,0.00013375554,0.36131674,0.00043528306,0.00036535447,0.0007210029,0.0026422082,0.59727186,0.0034785932,0.0042714104,0.028841784,0.00011506238],"about_ca_topic_score_codex":0.9243109,"about_ca_topic_score_gemma":0.9256796,"teacher_disagreement_score":0.07568908,"about_ca_system_score_codex":0.019537356,"about_ca_system_score_gemma":0.038587335,"threshold_uncertainty_score":0.1522696},"labels":[],"label_agreement":null},{"id":"W4294647471","doi":"10.1186/s13023-022-02476-6","title":"Social pharmaceutical innovation and alternative forms of research, development and deployment for drugs for rare diseases","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Innovation and Socioeconomic Development","field":"Business, Management and Accounting","cited_by":36,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia; York University","funders":"Social Sciences and Humanities Research Council of Canada; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Fundação de Amparo à Pesquisa do Estado de São Paulo; Agence Nationale de la Recherche; Federation for the Humanities and Social Sciences","keywords":"Business; Equity (law); General partnership; Pharmaceutical industry; Framing (construction); Social innovation; Variety (cybernetics); Health care; Public relations; Medicine; Economics; Economic growth; Political science; Pharmacology; Finance; Engineering","score_opus":0.0566885731183046,"score_gpt":0.3454769838665889,"score_spread":0.2887884107482843,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4294647471","genre_codex":"other","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.02949041,0.010308395,0.08966415,0.20514755,0.0017176447,0.00048099016,0.00016266824,0.00023035702,0.6627978],"genre_scores_gemma":[0.89597803,0.007159228,0.038125895,0.022463538,0.0017023286,0.0007322364,0.000098345554,0.00012288366,0.033617496],"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.9570552,0.025390392,0.0013881187,0.004626917,0.008444096,0.003095258],"domain_scores_gemma":[0.97025955,0.014684709,0.0039533894,0.0059030484,0.0026988005,0.0025005022],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.027390052,0.0007517883,0.00071036496,0.0030657987,0.0063744187,0.012809793,0.0019372734,0.00974459,0.010537559],"category_scores_gemma":[0.02521795,0.00055181526,0.0016340984,0.0022225059,0.057096228,0.014811964,0.014559498,0.00790578,0.0018409446],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000007403162,0.000016685606,0.00019857941,0.000054248634,0.000008869962,0.00007376006,0.00062749017,0.0001727774,0.00007962869,0.99174035,0.0014545127,0.005565796],"study_design_scores_gemma":[0.00004322437,0.000084425345,0.0004649281,0.00032400075,0.00001532049,0.0002561151,0.0007388397,0.00083175884,0.00032566336,0.87551624,0.12136738,0.000032086937],"about_ca_topic_score_codex":0.0022569194,"about_ca_topic_score_gemma":0.0024716342,"teacher_disagreement_score":0.027390052,"about_ca_system_score_codex":0.0085896095,"about_ca_system_score_gemma":0.012752612,"threshold_uncertainty_score":0.14485413},"labels":[],"label_agreement":null},{"id":"W4295031097","doi":"10.1186/s13023-022-02515-2","title":"A multi-disciplinary, comprehensive approach to management of children with heterotaxy","year":2022,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":38,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University Health Centre","funders":"National Heart, Lung, and Blood Institute","keywords":"Medicine; Heterotaxy; Asplenia; Intensive care medicine; Population; Primary ciliary dyskinesia; Pulmonary atresia; Polysplenia; Pediatrics; Situs inversus; Bronchiectasis; Heart disease; Internal medicine; Lung","score_opus":0.06342129231158895,"score_gpt":0.333794071662986,"score_spread":0.2703727793513971,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4295031097","genre_codex":"other","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.25997347,0.20965473,0.096375465,0.14636937,0.009754983,0.0025491514,0.001942927,0.0038978648,0.2694821],"genre_scores_gemma":[0.61455655,0.13317797,0.1293859,0.05123523,0.007950881,0.0023200861,0.0020586927,0.00075304107,0.05856165],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.999549,0.00008678419,0.000050100916,0.0000782467,0.00012479605,0.00011115363],"domain_scores_gemma":[0.99924135,0.00009527435,0.000070726375,0.000020088311,0.00015699625,0.00041560587],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00034241634,0.0007213737,0.0007920261,0.0011715356,0.0016699376,0.0008381563,0.00074521545,0.0012378278,0.008700516],"category_scores_gemma":[0.0016840573,0.00020001842,0.0007258242,0.0004019101,0.0004020241,0.001047015,0.0021383637,0.0033933904,0.0016419175],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00022685183,0.0010645338,0.0671058,0.0013866941,0.00026310203,0.11166704,0.0026826735,0.0038556992,0.007824411,0.0064917756,0.20157607,0.5958553],"study_design_scores_gemma":[0.00025739043,0.0013509,0.17562069,0.011373199,0.00024537987,0.29833654,0.007206285,0.004719437,0.0024785288,0.022777123,0.4752984,0.0003361858],"about_ca_topic_score_codex":0.004528733,"about_ca_topic_score_gemma":0.0078062615,"teacher_disagreement_score":0.008700516,"about_ca_system_score_codex":0.001095465,"about_ca_system_score_gemma":0.0028137995,"threshold_uncertainty_score":0.02910614},"labels":[],"label_agreement":null},{"id":"W4296026431","doi":"10.1186/s13023-022-02512-5","title":"Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic","year":2022,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; University of Alberta","funders":"Northern Alberta Clinical Trials and Research Centre; Ultragenyx Pharmaceutical; Alberta Health Services","keywords":"Carnitine; Beta oxidation; Fatty acid metabolism; Genotype; Internal medicine; Biology; Medicine; Gastroenterology; Phenotype; Fatty acid; Carnitine O-palmitoyltransferase; Human genetics; Metabolism; Endocrinology; Genetics; Biochemistry; Gene","score_opus":0.025196153187405937,"score_gpt":0.2950245853518854,"score_spread":0.2698284321644795,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4296026431","genre_codex":"empirical","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9992874,0.00008755343,0.000032611784,0.000039334733,0.0000038495086,0.000011650212,0.00016568044,0.0000041184153,0.00036769192],"genre_scores_gemma":[0.9994691,0.0000407259,0.000040389357,0.000038738486,0.000009885782,0.000009644205,0.00030306526,0.0000025924373,0.00008573355],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99937516,0.00007991462,0.00006910734,0.00017978203,0.00012744978,0.00016862965],"domain_scores_gemma":[0.9985794,0.00016397708,0.0005052616,0.00007191741,0.00013585688,0.0005436686],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00034983893,0.00045889342,0.0005536437,0.00080803694,0.0013892071,0.000569733,0.0004294585,0.00049745623,0.0021170538],"category_scores_gemma":[0.0012547642,0.00027650804,0.0003763011,0.00084631046,0.0004063528,0.00035440104,0.0007768625,0.0005342282,0.0002681674],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00024046958,0.00015902452,0.9882388,0.000016077613,0.000048518803,0.007439295,0.00018410104,0.00009137857,0.00067548855,0.000041362393,0.0003378901,0.0025274826],"study_design_scores_gemma":[0.000101857004,0.001003619,0.96039253,0.00003124575,0.00006963381,0.03645966,0.00065640634,0.00035017388,0.00044609798,0.00009797706,0.0003682206,0.000022673745],"about_ca_topic_score_codex":0.0042014397,"about_ca_topic_score_gemma":0.0059240703,"teacher_disagreement_score":0.0042014397,"about_ca_system_score_codex":0.0009523877,"about_ca_system_score_gemma":0.0009305598,"threshold_uncertainty_score":0.008353949},"labels":[],"label_agreement":null},{"id":"W4298393765","doi":"10.1186/s13023-022-02497-1","title":"Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome","year":2022,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":10,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Centre Hospitalier Universitaire de Sherbrooke; McGill University; Montreal Neurological Institute and Hospital; Université du Québec à Chicoutimi; Cégep de Jonquière; Université de Sherbrooke","funders":"Fonds de Recherche du Québec - Santé","keywords":"Ataxia; Disease; Mental health; Depression (economics); Psychology; Human genetics; Medicine; Psychiatry; Clinical psychology; Genetics; Pathology; Biology","score_opus":0.059943597866251384,"score_gpt":0.3341424153255458,"score_spread":0.2741988174592944,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4298393765","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0012845156,0.99797267,0.0000671212,0.00014131081,0.000050060895,0.000019420855,0.000058443118,0.0000022642128,0.0004041463],"genre_scores_gemma":[0.016604582,0.9825575,0.00038886568,0.00010608709,0.000034754594,0.000054149066,0.00009838081,0.0000015173379,0.00015419985],"study_design_codex":"design_other","study_design_gemma":"observational","domain_scores_codex":[0.998412,0.00075464835,0.00033263545,0.00011570397,0.00032507844,0.000059908332],"domain_scores_gemma":[0.99673307,0.0020600273,0.00069547375,0.000031447573,0.00041765632,0.000062363004],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0027791613,0.0006546046,0.0016926046,0.0030986406,0.00019971789,0.0010148319,0.00081317365,0.00077411596,0.0016897813],"category_scores_gemma":[0.006891537,0.00018858498,0.0012740842,0.002595307,0.00026572437,0.0007505825,0.00061552145,0.0006055872,0.00024002304],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0002790236,0.00007257756,0.007777408,0.2249877,0.0021518802,0.0005304774,0.0010100112,0.00030556804,0.00037405483,0.0014510766,0.0076039424,0.75345623],"study_design_scores_gemma":[0.0002922025,0.0009183453,0.096628085,0.54691535,0.01416881,0.011941188,0.0042548417,0.0004982373,0.001427318,0.0017821409,0.32097724,0.00019625988],"about_ca_topic_score_codex":0.0046255384,"about_ca_topic_score_gemma":0.00906109,"teacher_disagreement_score":0.99537444,"about_ca_system_score_codex":0.00096507755,"about_ca_system_score_gemma":0.0023351193,"threshold_uncertainty_score":0.014697731},"labels":[],"label_agreement":null},{"id":"W4303650528","doi":"10.1186/s13023-022-02534-z","title":"Historical and projected public spending on drugs for rare diseases in Canada between 2010 and 2025","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"EVERSANA (Canada)","funders":"","keywords":"Human genetics; Orphan drug; Public economics; Business; Economics; Chemistry; Biology; Bioinformatics; Biochemistry","score_opus":0.18544799412464139,"score_gpt":0.3548030397922126,"score_spread":0.16935504566757123,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4303650528","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.50388664,0.013219948,0.0022212118,0.01314436,0.00023501327,0.00018183251,0.41275376,0.00046768156,0.053889558],"genre_scores_gemma":[0.90553194,0.00931342,0.0020463155,0.0012273128,0.00006457955,0.00009511501,0.07609765,0.000044386146,0.005579309],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99837804,0.000116434465,0.0000931537,0.00013236377,0.0007411652,0.0005388503],"domain_scores_gemma":[0.99592245,0.00016921444,0.00063747686,0.000052654723,0.0025935266,0.0006247619],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000929818,0.0006644286,0.00035539627,0.0037441556,0.0013822925,0.0021282304,0.0009866661,0.00040407528,0.0038796365],"category_scores_gemma":[0.0042801974,0.00028723967,0.0014169572,0.0073451796,0.00054242014,0.0007736875,0.0010641818,0.00084999896,0.0005247971],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":true,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0009940712,0.000102676226,0.756015,0.0013649997,0.0011809608,0.0007165963,0.0007353347,0.028965734,0.0006437744,0.01308179,0.124224626,0.07197452],"study_design_scores_gemma":[0.000101840655,0.00009653267,0.87597287,0.00080341776,0.0006079464,0.0007989297,0.0013557068,0.017860314,0.00073285215,0.001156569,0.10038452,0.00012844299],"about_ca_topic_score_codex":0.992882,"about_ca_topic_score_gemma":0.9919674,"teacher_disagreement_score":0.91312796,"about_ca_system_score_codex":0.086872034,"about_ca_system_score_gemma":0.09163988,"threshold_uncertainty_score":0.6303037},"labels":[],"label_agreement":null},{"id":"W4307106827","doi":"10.1186/s13023-022-02547-8","title":"Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":40,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Albert-Ludwigs-Universität Freiburg; Harmony Biosciences; Sarepta Therapeutics; F. Hoffmann-La Roche; Argenx; Biogen; Spark Therapeutics; PTC Therapeutics; Ultragenyx Pharmaceutical; Sanofi; Pfizer","keywords":"SMA*; Medicine; Spinal muscular atrophy; Milestone; Motor function; Pediatrics; Physical therapy; Disease; Neuromuscular disease; Physical medicine and rehabilitation; Internal medicine","score_opus":0.007109677072452832,"score_gpt":0.24774354609186347,"score_spread":0.24063386901941064,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4307106827","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99685967,0.00025518992,0.000046510206,0.000020058922,0.0000041061808,0.00003423732,0.002511707,0.0000037710236,0.00026481226],"genre_scores_gemma":[0.99209243,0.00025056273,0.00016447436,0.000049847484,0.0000146281145,0.000108203465,0.0070985127,0.000006536048,0.00021481921],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99855083,0.00030945239,0.00023431,0.00041141987,0.0002738069,0.00022025919],"domain_scores_gemma":[0.9962561,0.00037264285,0.0022500306,0.0003484734,0.00037537864,0.0003972335],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0015551058,0.00051229086,0.00095228694,0.0013040676,0.0006328108,0.0010809704,0.0006451737,0.0007320825,0.0014555271],"category_scores_gemma":[0.0027320397,0.0004331083,0.0013827981,0.0022307648,0.0003541847,0.0009456208,0.0010195805,0.00072685664,0.00046739823],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00039120205,0.000060581628,0.998173,0.000021271284,0.00013253525,0.00013255738,0.00008733718,0.000030414547,0.00007443798,0.000009771926,0.000143653,0.0007432647],"study_design_scores_gemma":[0.000041520798,0.00026629667,0.9987613,0.000012432753,0.00007820697,0.00035775232,0.00014791028,0.00005959645,0.000036644382,0.000007240371,0.00022500067,0.0000061705205],"about_ca_topic_score_codex":0.006792344,"about_ca_topic_score_gemma":0.009896695,"teacher_disagreement_score":0.006792344,"about_ca_system_score_codex":0.00085898413,"about_ca_system_score_gemma":0.0008921139,"threshold_uncertainty_score":0.013505578},"labels":[],"label_agreement":null},{"id":"W4307508544","doi":"10.1186/s13023-022-02552-x","title":"Effects of a support group leader education program jointly developed by health professionals and patients on peer leader self-efficacy among leaders of scleroderma support groups: a two-arm parallel partially nested randomised controlled trial","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Systemic Sclerosis and Related Diseases","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of the Fraser Valley; Alberta Health Services; Université du Québec à Montréal; Multiple Sclerosis Society of Canada; University of Calgary; McGill University; Jewish General Hospital; McGill University Health Centre","funders":"Mitacs; Canadian Institutes of Health Research; Scleroderma Society of Ontario; National Scleroderma Foundation","keywords":"Peer support; Intervention (counseling); Randomized controlled trial; Medicine; Physical therapy; Support group; Self-efficacy; Self-management; Distress; Family medicine; Clinical psychology; Psychology; Nursing; Psychiatry; Social psychology; Internal medicine","score_opus":0.018920235472655,"score_gpt":0.3053293718270479,"score_spread":0.2864091363543929,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4307508544","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.96125585,0.0032184187,0.0012210609,0.0006147001,0.0010274615,0.030764414,0.00046921635,0.00016994773,0.0012589069],"genre_scores_gemma":[0.9425949,0.0016530365,0.0049855583,0.0005422132,0.000594351,0.047838267,0.00031393886,0.000016496191,0.0014612767],"study_design_codex":"randomized_trial","study_design_gemma":"randomized_trial","domain_scores_codex":[0.9959105,0.0022698366,0.0003945684,0.00064663216,0.0003778608,0.00040056207],"domain_scores_gemma":[0.99707437,0.0010718202,0.000542872,0.000232543,0.00021504457,0.0008634452],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004321234,0.0019817736,0.005111779,0.00104183,0.0012559037,0.0015120554,0.0014619562,0.0038643805,0.005816594],"category_scores_gemma":[0.0071965815,0.0011316459,0.0030655626,0.00065299764,0.0017700166,0.0015890336,0.0014183477,0.002835447,0.0006871514],"study_design_candidate":"randomized_trial","study_design_consensus":"randomized_trial","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.9500652,0.027690638,0.00045044112,0.0017091078,0.0011374162,0.000034269207,0.0001528351,0.00022020705,0.0007473499,0.0001001971,0.00024400816,0.017448315],"study_design_scores_gemma":[0.9309139,0.06753912,0.0006364353,0.00006730516,0.0003293325,0.000006982612,0.00002854934,0.00017065083,0.00011453929,0.00005806894,0.00012615218,0.00000890968],"about_ca_topic_score_codex":0.0018520524,"about_ca_topic_score_gemma":0.0026433405,"teacher_disagreement_score":0.005816594,"about_ca_system_score_codex":0.0015315535,"about_ca_system_score_gemma":0.0033943178,"threshold_uncertainty_score":0.022853136},"labels":[],"label_agreement":null},{"id":"W4308464619","doi":"10.1186/s13023-022-02539-8","title":"Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Public Health Ontario; University of Toronto; St. Michael's Hospital","funders":"U.S. Department of Defense","keywords":"Medicine; Telangiectasia; Placebo; Doxycycline; Crossover study; Internal medicine; Randomized controlled trial; Stroke (engine); Gastroenterology; Surgery; Pathology","score_opus":0.02301880413884112,"score_gpt":0.3036591727193723,"score_spread":0.2806403685805312,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4308464619","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.966236,0.0070812306,0.001238119,0.0012017238,0.0021400633,0.017387278,0.0016778896,0.0002619717,0.002775677],"genre_scores_gemma":[0.9638316,0.003668892,0.0030081728,0.0015846628,0.0011407504,0.021251218,0.0010800161,0.000034860583,0.00439985],"study_design_codex":"randomized_trial","study_design_gemma":"randomized_trial","domain_scores_codex":[0.9988445,0.0005496342,0.000112544316,0.00021740436,0.00010206285,0.00017381604],"domain_scores_gemma":[0.9982021,0.00055473513,0.00036834122,0.00015572233,0.00017793346,0.00054127624],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0021527368,0.00183759,0.0057091652,0.0006316256,0.0007678984,0.0012247966,0.0012102269,0.00299162,0.009044727],"category_scores_gemma":[0.0032023906,0.00097427913,0.0015724585,0.0005483065,0.0015818103,0.0011739413,0.0005061209,0.0027556207,0.0011047581],"study_design_candidate":"randomized_trial","study_design_consensus":"randomized_trial","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.98889434,0.00493479,0.00013475007,0.00049126666,0.00036047204,0.000019957692,0.000020839223,0.000059348557,0.00090472144,0.000048932103,0.000277947,0.0038524363],"study_design_scores_gemma":[0.98220026,0.017173769,0.00026717407,0.0000122856,0.000082934566,0.0000055937685,0.000004582775,0.000061226914,0.00006150726,0.000025860661,0.00010148466,0.0000033258245],"about_ca_topic_score_codex":0.0013916171,"about_ca_topic_score_gemma":0.002530324,"teacher_disagreement_score":0.009044727,"about_ca_system_score_codex":0.0008463197,"about_ca_system_score_gemma":0.0021176743,"threshold_uncertainty_score":0.030257642},"labels":[],"label_agreement":null},{"id":"W4309074179","doi":"10.1186/s13023-022-02568-3","title":"Clinical management guidelines for Friedreich ataxia: best practice in rare diseases","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":39,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University","funders":"Friedreich's Ataxia Research Alliance","keywords":"Best practice; Systematic review; Medicine; Health care; MEDLINE; Grading (engineering); Guideline; Family medicine; Medical education; Pathology","score_opus":0.07986500142544319,"score_gpt":0.3900429575674408,"score_spread":0.3101779561419976,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4309074179","genre_codex":"commentary","genre_gemma":"other","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0045824805,0.18175066,0.08562367,0.60695535,0.020560898,0.009376729,0.003906991,0.001836609,0.085406646],"genre_scores_gemma":[0.047797415,0.21353912,0.59289086,0.10344576,0.007861863,0.010255798,0.007956346,0.00059699436,0.015655847],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9276733,0.038374577,0.018477023,0.0018989226,0.012093866,0.0014823375],"domain_scores_gemma":[0.80798155,0.0724231,0.02027906,0.006013176,0.08606773,0.007235419],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.054065693,0.0017429249,0.0018826904,0.010138027,0.0025288549,0.0067290324,0.005428869,0.009075143,0.0076554315],"category_scores_gemma":[0.21127987,0.0011045476,0.0031967224,0.0063440986,0.0025442396,0.0069468706,0.006653313,0.008792954,0.006187326],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000066258996,0.00020184142,0.0020756077,0.019588282,0.00019260641,0.0006517283,0.003601402,0.0014161349,0.00058482756,0.016132504,0.58425546,0.37123334],"study_design_scores_gemma":[0.00014225983,0.000119821874,0.0025042507,0.10396386,0.0003127774,0.0009514061,0.0021321024,0.0011497914,0.00044750684,0.021298893,0.86684245,0.00013491286],"about_ca_topic_score_codex":0.013596724,"about_ca_topic_score_gemma":0.025886225,"teacher_disagreement_score":0.054065693,"about_ca_system_score_codex":0.008256817,"about_ca_system_score_gemma":0.03955798,"threshold_uncertainty_score":0.2859301},"labels":[],"label_agreement":null},{"id":"W4316020289","doi":"10.1186/s13023-022-02600-6","title":"Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; Université de Sherbrooke","funders":"Fonds de Recherche du Québec - Santé","keywords":"Neurophysiology; Epilepsy; Neuroscience; Human genetics; Computer science; Psychology; Biology; Genetics","score_opus":0.03868387528014041,"score_gpt":0.3354217163027505,"score_spread":0.29673784102261014,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4316020289","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99675685,0.00024348762,0.0017180775,0.000032034077,0.000007324953,0.000042262724,0.00015740216,0.000025829167,0.001016636],"genre_scores_gemma":[0.998711,0.00014343917,0.00076546543,0.000027147087,0.0000062900467,0.000027199358,0.00007907221,0.0000053691674,0.00023500982],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99992216,0.00001768647,0.000009478956,0.00002337916,0.000015421514,0.00001183038],"domain_scores_gemma":[0.99982387,0.000048001537,0.000048112808,0.000012009359,0.000027848799,0.00004005464],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001692798,0.00030206286,0.00016418906,0.0004924907,0.00009778792,0.00012851674,0.00011689961,0.00023749711,0.0012300723],"category_scores_gemma":[0.0005344292,0.000057576377,0.00009644521,0.00017974533,0.00028456922,0.00010497413,0.00019654007,0.00026319415,0.00010502169],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0034364273,0.00030907086,0.24238284,0.0003563212,0.00022541164,0.009179979,0.000926616,0.0008071158,0.684643,0.00019511361,0.0004223368,0.057115745],"study_design_scores_gemma":[0.000048687627,0.0013777597,0.95119447,0.000020934738,0.00009724372,0.012231615,0.00039824433,0.0014168246,0.03251615,0.00020905859,0.00047400038,0.000014953636],"about_ca_topic_score_codex":0.0007866323,"about_ca_topic_score_gemma":0.0011680779,"teacher_disagreement_score":0.0012300723,"about_ca_system_score_codex":0.00011526285,"about_ca_system_score_gemma":0.0000906172,"threshold_uncertainty_score":0.0041149855},"labels":[],"label_agreement":null},{"id":"W4316661795","doi":"10.1186/s13023-022-02602-4","title":"Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Quality of life (healthcare); Medicine; Pediatrics; Obesity; Down syndrome; Bardet–Biedl syndrome; Young adult; Physical therapy; Internal medicine; Psychiatry","score_opus":0.008214152908539114,"score_gpt":0.2582040884523246,"score_spread":0.2499899355437855,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4316661795","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.987242,0.0064159376,0.00032148656,0.00041822885,0.00012160433,0.0015732651,0.0023926892,0.00006272544,0.0014522057],"genre_scores_gemma":[0.98622096,0.0031176282,0.0013661187,0.00086004817,0.00014746562,0.004247447,0.0030111787,0.000020074543,0.001009192],"study_design_codex":"randomized_trial","study_design_gemma":"randomized_trial","domain_scores_codex":[0.9993338,0.00031342928,0.000059803624,0.00009706883,0.00007863467,0.000117220094],"domain_scores_gemma":[0.9989675,0.00024091454,0.0003411846,0.000066146065,0.000073483476,0.00031078726],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002157463,0.00080054044,0.0020263493,0.00023477516,0.0003919566,0.0009548422,0.000546799,0.0009875468,0.004743054],"category_scores_gemma":[0.0017224868,0.00027763416,0.003096027,0.00036189816,0.0005382064,0.0006139562,0.00044760507,0.0025610256,0.00041496218],"study_design_candidate":"randomized_trial","study_design_consensus":"randomized_trial","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.894335,0.014322907,0.0126303295,0.0019978585,0.0046424787,0.00016149231,0.00023798217,0.0013030681,0.0041693626,0.00018826459,0.0031375622,0.062873736],"study_design_scores_gemma":[0.7600202,0.1861267,0.047114052,0.00032204716,0.002045895,0.00032993022,0.000111568035,0.0007997966,0.0008969956,0.00020940724,0.0019784076,0.000045097084],"about_ca_topic_score_codex":0.00088692567,"about_ca_topic_score_gemma":0.0026448937,"teacher_disagreement_score":0.004743054,"about_ca_system_score_codex":0.00086028397,"about_ca_system_score_gemma":0.001128467,"threshold_uncertainty_score":0.015867054},"labels":[],"label_agreement":null},{"id":"W4319597917","doi":"10.1186/s13023-023-02620-w","title":"Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UK","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Kyowa Kirin Pharmaceutical Development","keywords":"Pittsburgh Sleep Quality Index; Epworth Sleepiness Scale; Hospital Anxiety and Depression Scale; Cohort; Quality of life (healthcare); Anxiety; Medicine; Patient-reported outcome; Physical therapy; Depression (economics); Cohort study; Psychiatry; Internal medicine; Polysomnography; Insomnia; Sleep quality","score_opus":0.037720306596276384,"score_gpt":0.3153668031147754,"score_spread":0.277646496518499,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4319597917","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9964857,0.00053589774,0.000102080056,0.00007470053,0.000010938006,0.000052467447,0.0024446317,0.0000030254353,0.00029054514],"genre_scores_gemma":[0.997401,0.00028351237,0.0001354438,0.00008123564,0.0000076265765,0.0001002714,0.0017494581,0.000003155533,0.00023830416],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9967714,0.0011409977,0.0005885784,0.0005463458,0.0006037625,0.0003489587],"domain_scores_gemma":[0.9955374,0.0005927291,0.0022971632,0.00032774665,0.00075412076,0.00049096637],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0023969852,0.00034547792,0.0008070029,0.0012688955,0.0005512751,0.0012587779,0.00071502797,0.00073346106,0.0017843032],"category_scores_gemma":[0.006048081,0.00036183055,0.0009137705,0.0023697342,0.0004837919,0.0006858184,0.0017443788,0.00074001704,0.0004040936],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00016385262,0.000029228095,0.9978375,0.000049594684,0.00009218564,0.00013812333,0.0003437395,0.000017028935,0.0001569444,0.000014410361,0.0001762078,0.0009812043],"study_design_scores_gemma":[0.000014285752,0.00008440189,0.99928147,0.00001883785,0.000024547431,0.00015173371,0.000230521,0.000022298915,0.000018249428,0.0000057678058,0.0001436601,0.0000042977217],"about_ca_topic_score_codex":0.027884554,"about_ca_topic_score_gemma":0.021394875,"teacher_disagreement_score":0.027884554,"about_ca_system_score_codex":0.0007548933,"about_ca_system_score_gemma":0.000642838,"threshold_uncertainty_score":0.05544448},"labels":[],"label_agreement":null},{"id":"W4321487630","doi":"10.1186/s13023-023-02627-3","title":"The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University","funders":"Ultragenyx Pharmaceutical; Mereo BioPharma; Acceleron; Osteogenesis Imperfecta Foundation","keywords":"MEDLINE; PsycINFO; Medicine; Osteogenesis imperfecta; Checklist; Health care; Family medicine; Systematic review; Grey literature; Psychology; Pathology","score_opus":0.028542017534601064,"score_gpt":0.37995929598537365,"score_spread":0.3514172784507726,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4321487630","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0037229336,0.9929519,0.00014195705,0.0007317759,0.00013224359,0.00048641185,0.00079805165,0.0000039364577,0.0010308496],"genre_scores_gemma":[0.028146993,0.96959776,0.00048121667,0.00044972397,0.00006749441,0.00076764234,0.0003929545,0.0000030997335,0.000093127266],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.9849702,0.0062158317,0.0053037335,0.0006853021,0.0024894658,0.00033541443],"domain_scores_gemma":[0.94476414,0.04268086,0.008531748,0.0005148022,0.003162789,0.0003455793],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.013159517,0.00094973587,0.004004279,0.014219223,0.0011465236,0.0035341543,0.001512805,0.0020606655,0.0038828312],"category_scores_gemma":[0.075670995,0.000988725,0.0038250233,0.017572379,0.0013368719,0.0033660878,0.0021803011,0.0012196737,0.0002371102],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00015471599,0.00003076764,0.005700902,0.8898059,0.0048016524,0.00039764037,0.0020357582,0.00019379656,0.00005794539,0.00087292533,0.004025694,0.091922395],"study_design_scores_gemma":[0.000042063824,0.00007598658,0.006713254,0.966858,0.008368846,0.0005842889,0.0017980946,0.00005070813,0.000042013795,0.00024502585,0.015197078,0.00002450442],"about_ca_topic_score_codex":0.012360833,"about_ca_topic_score_gemma":0.02627227,"teacher_disagreement_score":0.014219223,"about_ca_system_score_codex":0.0045692204,"about_ca_system_score_gemma":0.016583672,"threshold_uncertainty_score":0.06959498},"labels":[],"label_agreement":null},{"id":"W4321499575","doi":"10.1186/s13023-023-02631-7","title":"Post-acute phase and sequelae management of epidermal necrolysis: an international, multidisciplinary DELPHI-based consensus","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Drug-Induced Adverse Reactions","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Health Sciences Centre; University of Toronto; Sunnybrook Health Science Centre; Canadian Bulletin of Medical History","funders":"","keywords":"Toxic epidermal necrolysis; Multidisciplinary approach; Medicine; Human genetics; Delphi; Delphi method; Intensive care medicine; Political science; Dermatology; Computer science; Genetics; Biology; Law","score_opus":0.031168418853523654,"score_gpt":0.35206837194907364,"score_spread":0.32089995309555,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4321499575","genre_codex":"empirical","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.711578,0.0041286037,0.16779684,0.04053752,0.0020063724,0.03637931,0.00051706936,0.00024453388,0.036811776],"genre_scores_gemma":[0.8709673,0.002105028,0.1095144,0.003391291,0.00018843828,0.012113477,0.00026287138,0.00004152488,0.0014157384],"study_design_codex":"qualitative","study_design_gemma":"not_applicable","domain_scores_codex":[0.7674846,0.20072818,0.01499704,0.0028713145,0.00865737,0.0052614794],"domain_scores_gemma":[0.907622,0.057216365,0.0049615563,0.0034627041,0.023198806,0.0035385408],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.18264961,0.0010776755,0.0007945736,0.003487757,0.0035048558,0.0028308157,0.0020692793,0.0020714703,0.002095518],"category_scores_gemma":[0.12665127,0.0007529925,0.0012105958,0.0019198394,0.003970791,0.0032722033,0.010633837,0.002802872,0.00040719798],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0013031831,0.0008695149,0.029683601,0.007560956,0.00041957464,0.0023243488,0.5639411,0.0051225163,0.016213888,0.027869232,0.03132995,0.31336215],"study_design_scores_gemma":[0.0005772988,0.0020672819,0.03843477,0.01333121,0.00040552687,0.0043865438,0.6907021,0.024747225,0.009027639,0.0602528,0.15536718,0.00070038665],"about_ca_topic_score_codex":0.001438034,"about_ca_topic_score_gemma":0.0013719356,"teacher_disagreement_score":0.18264961,"about_ca_system_score_codex":0.004685864,"about_ca_system_score_gemma":0.018005881,"threshold_uncertainty_score":0.965955},"labels":[],"label_agreement":null},{"id":"W4321595899","doi":"10.1186/s13023-022-02448-w","title":"Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa","year":2023,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"SickKids Foundation; University of Toronto; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Epidermolysis bullosa; Anemia; Medicine; Iron-deficiency anemia; Pediatrics; Intensive care medicine; Quality of life (healthcare); Family medicine; Dermatology; Internal medicine; Nursing","score_opus":0.08741935296692513,"score_gpt":0.39307692074909945,"score_spread":0.30565756778217434,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4321595899","genre_codex":"commentary","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0057666204,0.2211313,0.14476739,0.4872023,0.04675085,0.018330906,0.005434304,0.0019282098,0.06868815],"genre_scores_gemma":[0.041331045,0.16700868,0.6816054,0.052074227,0.007793982,0.020824099,0.01270188,0.00039118683,0.016269479],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.8839074,0.059605848,0.029323425,0.0025592977,0.021944448,0.002659611],"domain_scores_gemma":[0.79434276,0.057889275,0.018154178,0.0052605183,0.11740444,0.006948876],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.08312785,0.0022178856,0.003192365,0.010311501,0.0031132216,0.0048079863,0.011367785,0.012774446,0.006056468],"category_scores_gemma":[0.15526225,0.0015512855,0.0076854355,0.0055127735,0.0028308306,0.0039334972,0.0066350573,0.013212,0.005377662],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00021548948,0.0005056584,0.0034532826,0.03033258,0.0005859438,0.0012772224,0.003897614,0.0020537546,0.0014080722,0.016723627,0.49264526,0.44690156],"study_design_scores_gemma":[0.00040382383,0.00036643993,0.0051172096,0.093452394,0.0009745017,0.0024287093,0.0023184367,0.0023880554,0.0012029044,0.025978427,0.8651486,0.00022048035],"about_ca_topic_score_codex":0.009640565,"about_ca_topic_score_gemma":0.010320976,"teacher_disagreement_score":0.08312785,"about_ca_system_score_codex":0.007026306,"about_ca_system_score_gemma":0.03926116,"threshold_uncertainty_score":0.43962735},"labels":[],"label_agreement":null},{"id":"W4321613987","doi":"10.1186/s13023-023-02629-1","title":"Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review","year":2023,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Fondation Maladies Rares; Rare Disease Foundation","keywords":"Psychosocial; Quality of life (healthcare); Perception; Human genetics; Psychology; Clinical psychology; Medicine; Gerontology; Psychotherapist; Genetics; Biology","score_opus":0.021660105425462272,"score_gpt":0.3264110438186891,"score_spread":0.3047509383932268,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4321613987","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0046655014,0.9941062,0.00007611745,0.00018217588,0.000060147744,0.00023218685,0.0003895162,0.000004093113,0.00028409006],"genre_scores_gemma":[0.042309325,0.9559002,0.00044375076,0.00042663596,0.000064572065,0.0005061984,0.00023371971,0.0000031498241,0.000112414484],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.99621236,0.0012858716,0.0013623172,0.00028929077,0.0006955435,0.00015468767],"domain_scores_gemma":[0.9817873,0.013723439,0.0030687742,0.00016420076,0.0010667489,0.00018945208],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0039306777,0.0009899343,0.0044467137,0.0064511886,0.00054961536,0.0019742975,0.0008933439,0.0014256244,0.0027331337],"category_scores_gemma":[0.02035403,0.000605787,0.0046124193,0.007479087,0.0006157057,0.0015216924,0.0011388953,0.00072453223,0.00016207037],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00013317303,0.000024663163,0.002991023,0.9535619,0.0054598744,0.00021718192,0.00060859893,0.000057912053,0.00013198554,0.00014113684,0.0010678545,0.03560484],"study_design_scores_gemma":[0.00013287556,0.00026899052,0.017493827,0.92035484,0.04568385,0.0010355314,0.001329376,0.000066185545,0.00014143625,0.0001934097,0.013254314,0.000045421333],"about_ca_topic_score_codex":0.006507515,"about_ca_topic_score_gemma":0.020698935,"teacher_disagreement_score":0.006507515,"about_ca_system_score_codex":0.0021263903,"about_ca_system_score_gemma":0.0065788147,"threshold_uncertainty_score":0.020787656},"labels":[],"label_agreement":null},{"id":"W4366086061","doi":"10.1186/s13023-023-02686-6","title":"Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":88,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia","funders":"Consumers, Health and Food Executive Agency; European Commission","keywords":"Acid sphingomyelinase; Disease; Human genetics; Niemann–Pick disease; Medicine; Disease management; Intensive care medicine; Sphingomyelin; Chemistry; Biochemistry; Internal medicine; Gene","score_opus":0.0913416816062328,"score_gpt":0.4087367560074579,"score_spread":0.3173950744012251,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4366086061","genre_codex":"commentary","genre_gemma":"methods","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"methods","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.008753626,0.32633102,0.09057213,0.4226035,0.023539644,0.030721523,0.017816525,0.0017286548,0.07793347],"genre_scores_gemma":[0.050836124,0.22207816,0.5722218,0.072506964,0.005424857,0.036322176,0.028209435,0.0004188588,0.011981633],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9301046,0.02965885,0.028163461,0.0017895016,0.00857494,0.0017087045],"domain_scores_gemma":[0.8240268,0.052938916,0.021243347,0.0033475098,0.09404401,0.0043992684],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.05115166,0.0020846932,0.0034180894,0.013107596,0.002772766,0.0044918484,0.008358031,0.009676881,0.0052534263],"category_scores_gemma":[0.16782057,0.0014102578,0.007205969,0.008446477,0.001861286,0.003910757,0.005380198,0.0068680206,0.0031884643],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00020425378,0.00029021208,0.0044348557,0.06867997,0.00090675754,0.0012320535,0.0028503332,0.0022827408,0.001190404,0.014378507,0.5364567,0.36709324],"study_design_scores_gemma":[0.0007269965,0.0002955189,0.0076530734,0.2574918,0.002708439,0.0016544982,0.0023409752,0.0021210443,0.0012486748,0.025802463,0.69768286,0.00027355138],"about_ca_topic_score_codex":0.01527947,"about_ca_topic_score_gemma":0.021539906,"teacher_disagreement_score":0.05115166,"about_ca_system_score_codex":0.006590846,"about_ca_system_score_gemma":0.034567975,"threshold_uncertainty_score":0.27051908},"labels":[],"label_agreement":null},{"id":"W4367367966","doi":"10.1186/s13023-023-02697-3","title":"Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":29,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Calgary","funders":"Desitin Arzneimittel; Neuraxpharm; UCB Pharma; Natural Sciences and Engineering Research Council of Canada; Alberta Children's Hospital Foundation; Children's Hospital Foundation; Zogenix; Deutsche Forschungsgemeinschaft; Arvelle Therapeutics; Marinus Pharmaceuticals; Viropharma; GW Pharmaceuticals; Eisai; Jazz Pharmaceuticals; Angelini Pharma; European Commission; Bundesministerium für Bildung und Forschung; Biogen","keywords":"Dravet syndrome; Depression (economics); Anxiety; Medicine; Sleep (system call); Psychiatry; Prospective cohort study; Pediatrics; Gerontology; Epilepsy; Internal medicine","score_opus":0.012530681441419434,"score_gpt":0.3073512390344161,"score_spread":0.29482055759299663,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4367367966","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9996147,0.00013711564,0.000032217107,0.000013177814,0.000002344098,0.000010508886,0.00012385924,8.583554e-7,0.0000650482],"genre_scores_gemma":[0.9994998,0.00011506024,0.000069682625,0.000027692387,0.000006819971,0.000017644772,0.00022539156,8.0618764e-7,0.00003703697],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99947375,0.00017695465,0.000074186646,0.000106018044,0.00007796813,0.000091124515],"domain_scores_gemma":[0.99922764,0.00012086364,0.0003093687,0.00005761857,0.000089344605,0.00019524446],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009433757,0.00045092552,0.00059140753,0.0011794784,0.00059201015,0.0006639105,0.00027763576,0.00041720815,0.00080900546],"category_scores_gemma":[0.001566668,0.00030794236,0.0005571263,0.0011304806,0.0003353268,0.0005276232,0.000630023,0.00033192703,0.00015284527],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00010035305,0.000060682658,0.9984597,0.000011506516,0.000058643305,0.000103043596,0.00018652488,0.000017821572,0.00012298784,0.0000058029746,0.00005316486,0.0008197677],"study_design_scores_gemma":[0.000012800955,0.00013923168,0.99913496,0.000007883222,0.000031192365,0.00021413791,0.00028615716,0.000062270694,0.000023526738,0.0000041140934,0.0000804492,0.000003328385],"about_ca_topic_score_codex":0.005317194,"about_ca_topic_score_gemma":0.0051900526,"teacher_disagreement_score":0.005317194,"about_ca_system_score_codex":0.0004701165,"about_ca_system_score_gemma":0.0003112766,"threshold_uncertainty_score":0.010572493},"labels":[],"label_agreement":null},{"id":"W4368368290","doi":"10.1186/s13023-023-02717-2","title":"Pediatric joint hypermobility: a diagnostic framework and narrative review","year":2023,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":64,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children","funders":"Ehlers-Danlos Society","keywords":"Joint hypermobility; Ehlers–Danlos syndrome; Population; Medicine; Hypermobility (travel); Pediatrics; Physical therapy; Dermatology","score_opus":0.044510637629488974,"score_gpt":0.3674277140914207,"score_spread":0.32291707646193174,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4368368290","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00047407625,0.99726677,0.00015348745,0.0011329256,0.00021715827,0.000028622238,0.000100415695,0.0000075669,0.00061895355],"genre_scores_gemma":[0.0061581647,0.99131364,0.00049427367,0.0011430505,0.0005377956,0.00006258267,0.0001735153,0.0000028822094,0.00011408489],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.99904054,0.00021492189,0.00031265646,0.00015496773,0.00019441887,0.00008256995],"domain_scores_gemma":[0.99593425,0.0022974962,0.0011564352,0.00005076072,0.00041968076,0.00014142069],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001469774,0.0010984951,0.0012581593,0.009798245,0.0006794077,0.0020681077,0.0011875898,0.0016063581,0.0026705055],"category_scores_gemma":[0.006558158,0.00047804226,0.0011538623,0.008508249,0.0011847691,0.0030552258,0.001545501,0.0018343979,0.0005891695],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00019571104,0.000087365275,0.0084336065,0.24934702,0.00058314163,0.006626568,0.0019914892,0.00096604123,0.000624217,0.020094212,0.09351099,0.6175396],"study_design_scores_gemma":[0.00005206269,0.00014498785,0.012628919,0.3375804,0.0018072842,0.04223963,0.002294925,0.000385088,0.00025116446,0.007396263,0.59510285,0.0001165369],"about_ca_topic_score_codex":0.003090864,"about_ca_topic_score_gemma":0.0040965234,"teacher_disagreement_score":0.009798245,"about_ca_system_score_codex":0.0022215722,"about_ca_system_score_gemma":0.005143877,"threshold_uncertainty_score":0.016118705},"labels":[],"label_agreement":null},{"id":"W4378974775","doi":"10.1186/s13023-023-02707-4","title":"Meeting abstracts from the 11th edition of the European conference on Rare Diseases & Orphan Products (ECRD) 2022","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"European Rare Kidney Disease Reference Network; Universitätsklinikum Heidelberg; Région Normandie; Medizinische Universität Graz; Karl-Franzens-Universität Graz; GIS-Institut des Maladies Rares; Radboud Universiteit; Leids Universitair Medisch Centrum; Radboud Universitair Medisch Centrum; Trinity College Dublin; CERN; Helsingin Yliopisto; European Commission; Inselspital, Universitätsspital Bern; F. Hoffmann-La Roche; European Organisation for Rare Diseases; Ospedale Pediatrico Bambino Gesù; Albert-Ludwigs-Universität Freiburg; European Federation of Pharmaceutical Industries and Associations; University of Bern; PTC Therapeutics; KU Leuven; Alexion Pharmaceuticals; Hospital for Sick Children; Pfizer","keywords":"Orphan drug; Human genetics; Medicine; Bioinformatics; Genetics; Biology","score_opus":0.01619357744338483,"score_gpt":0.23839887205213925,"score_spread":0.22220529460875443,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4378974775","genre_codex":"other","genre_gemma":"other","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":"other","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0021762925,0.07373768,0.014188121,0.033325754,0.13756756,0.0016317267,0.027516354,0.0018778426,0.70797855],"genre_scores_gemma":[0.00620162,0.04926821,0.006392774,0.008997654,0.02610682,0.0013837045,0.025342321,0.00092797336,0.87537897],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9978011,0.00046433238,0.00036142868,0.00024887433,0.0009242762,0.00019997006],"domain_scores_gemma":[0.9952879,0.0010944203,0.0004981372,0.0003490057,0.0019671884,0.0008033851],"candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0034137361,0.0013154573,0.0014797449,0.0032416433,0.0005656117,0.0040380373,0.0015582162,0.0024960581,0.44685638],"category_scores_gemma":[0.0081202565,0.00036959085,0.00086520816,0.0022913236,0.0005005794,0.0018368714,0.0025186925,0.0021286802,0.262892],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000070462826,0.000027429212,0.00013998566,0.00038007475,0.000008604849,0.00006279963,0.000015657039,0.00006589408,0.0002825284,0.0005759993,0.9082023,0.09016821],"study_design_scores_gemma":[0.000011646657,0.000013938212,0.0003759286,0.00039211696,0.0000046856258,0.00009749135,0.000014356665,0.000048746577,0.000086209024,0.00031352384,0.9986357,0.0000055616715],"about_ca_topic_score_codex":0.002309749,"about_ca_topic_score_gemma":0.0027774519,"teacher_disagreement_score":0.44685638,"about_ca_system_score_codex":0.0011405586,"about_ca_system_score_gemma":0.002556795,"threshold_uncertainty_score":0.7889922},"labels":[],"label_agreement":null},{"id":"W4382344139","doi":"10.1186/s13023-023-02743-0","title":"Post-prandial analysis of fluctuations in the platelet count and platelet function in patients with the familial chylomicronemia syndrome","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Université de Montréal; Université du Québec à Chicoutimi","funders":"","keywords":"Platelet; Internal medicine; Hemostasis; Endocrinology; Chylomicron; Medicine; Acute pancreatitis; Post-prandial; Platelet activation; Lipoprotein; Cholesterol; Very low-density lipoprotein; Diabetes mellitus","score_opus":0.005487778457503921,"score_gpt":0.21995911529323375,"score_spread":0.21447133683572983,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4382344139","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99965525,0.0001170107,0.000058349415,0.000012309066,0.0000019452623,0.0000024302842,0.000029311988,0.000004167005,0.00011913807],"genre_scores_gemma":[0.9997744,0.000033013697,0.00006287692,0.000008097016,0.000004450928,0.0000028246827,0.000047107595,0.0000012405069,0.000066081666],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.999819,0.00004294544,0.000019673558,0.000049191665,0.000041574956,0.00002760271],"domain_scores_gemma":[0.9995573,0.000101819904,0.00017229111,0.000028201224,0.000032093336,0.00010833547],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00017445616,0.00042578715,0.000279606,0.00064391264,0.0003246447,0.0002837221,0.00018551757,0.00045558964,0.00081297685],"category_scores_gemma":[0.00095124374,0.00016392328,0.00019767502,0.00035420025,0.00024419624,0.00017947338,0.00018510869,0.00040339038,0.00009107955],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0019866766,0.00011553995,0.9745247,0.000026366253,0.00007588005,0.005633307,0.00033580093,0.000109100976,0.011159423,0.00003667843,0.00012057688,0.005875986],"study_design_scores_gemma":[0.000016872844,0.0005299134,0.9922863,0.0000028583902,0.000033673532,0.006013663,0.000076852535,0.00015536605,0.00077924994,0.000017852677,0.00008256899,0.0000047382637],"about_ca_topic_score_codex":0.001024893,"about_ca_topic_score_gemma":0.0012085502,"teacher_disagreement_score":0.001024893,"about_ca_system_score_codex":0.0002380884,"about_ca_system_score_gemma":0.00012001304,"threshold_uncertainty_score":0.0027197003},"labels":[],"label_agreement":null},{"id":"W4383312655","doi":"10.1186/s13023-023-02723-4","title":"Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Obesity; Medicine; Mood; Childhood obesity; Bardet–Biedl syndrome; Quality of life (healthcare); Disease; Pediatrics; Gerontology; Psychology; Psychiatry; Internal medicine; Overweight","score_opus":0.009037007504929214,"score_gpt":0.2430797026764546,"score_spread":0.23404269517152537,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4383312655","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99864775,0.00024348561,0.000060237555,0.000053681033,0.0000033994204,0.000026861064,0.0007865237,0.0000033724546,0.00017470306],"genre_scores_gemma":[0.99870026,0.00019959024,0.00012485012,0.000030290274,0.0000053760878,0.000037930717,0.0008257404,0.0000019232887,0.000073955314],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9988722,0.0003272197,0.00024162965,0.00017151274,0.0002459852,0.00014135794],"domain_scores_gemma":[0.99825674,0.0001898266,0.0009250916,0.00012154349,0.00022673255,0.00028012448],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0016990572,0.0002945345,0.00055295124,0.0015439352,0.0004432979,0.0005156767,0.0004973388,0.00041452766,0.0006931845],"category_scores_gemma":[0.002957498,0.00034346827,0.00067163777,0.0013113687,0.000297605,0.0006482018,0.0013471422,0.00048548752,0.00013752868],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000019461855,0.000013586642,0.99885,0.000017090391,0.00004200795,0.000051404517,0.00015776715,0.00002550943,0.00008303586,0.000005809646,0.00010886166,0.00062540174],"study_design_scores_gemma":[0.0000020959485,0.00003942282,0.999387,0.000008393722,0.000009687252,0.00016192684,0.00022950227,0.00006496774,0.000016048165,0.00000378691,0.00007440481,0.0000026615974],"about_ca_topic_score_codex":0.0096167615,"about_ca_topic_score_gemma":0.012834746,"teacher_disagreement_score":0.0096167615,"about_ca_system_score_codex":0.0006123961,"about_ca_system_score_gemma":0.0004527142,"threshold_uncertainty_score":0.019121587},"labels":[],"label_agreement":null},{"id":"W4383312702","doi":"10.1186/s13023-023-02692-8","title":"Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Medicine; Caregiver burden; Obesity; Bardet–Biedl syndrome; Mood; Gerontology; Pediatrics; Psychiatry; Internal medicine","score_opus":0.007683712209712122,"score_gpt":0.24262953358490086,"score_spread":0.23494582137518874,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4383312702","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99868447,0.0004904063,0.000035750018,0.00013590461,0.0000118207745,0.000016681828,0.00026323498,0.0000010834713,0.00036066977],"genre_scores_gemma":[0.99926287,0.00027321748,0.000051074643,0.000049234917,0.000006224117,0.000020928534,0.00028273655,8.033697e-7,0.000052962037],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9989599,0.000375964,0.0001757987,0.00009545221,0.0002617236,0.00013115334],"domain_scores_gemma":[0.997558,0.00032876662,0.0012522032,0.00007991665,0.00039413298,0.0003869955],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0017056682,0.0003176626,0.00044228023,0.0009189436,0.00072755135,0.00070345204,0.00036806805,0.00030407126,0.0007641445],"category_scores_gemma":[0.0055841208,0.00019109447,0.00059805426,0.0009529137,0.000304062,0.00045855413,0.0013607641,0.00052191457,0.00009160444],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00005690054,0.000025575566,0.99642485,0.00003526911,0.000053606156,0.00013831531,0.00079084735,0.000027787628,0.000035857774,0.0000179427,0.0003317797,0.0020612904],"study_design_scores_gemma":[0.000009378252,0.00005894284,0.9970811,0.00006081464,0.000025726336,0.00033232383,0.001984013,0.00006852033,0.000021037671,0.000021453421,0.00033070703,0.000005982411],"about_ca_topic_score_codex":0.010758426,"about_ca_topic_score_gemma":0.014372936,"teacher_disagreement_score":0.010758426,"about_ca_system_score_codex":0.0007607486,"about_ca_system_score_gemma":0.0005518924,"threshold_uncertainty_score":0.02139163},"labels":[],"label_agreement":null},{"id":"W4384205788","doi":"10.1186/s13023-023-02802-6","title":"Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature","year":2023,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Fonds de Recherche du Québec - Santé; Fondation du Grand défi Pierre Lavoie; Children's Mercy Hospital; Canadian Institutes of Health Research; McGill University Health Centre; Faculty of Medicine, McGill University; McGill University","keywords":"Folinic acid; Medicine; Neurodegeneration; Pediatrics; Encephalomalacia; Magnetic resonance imaging; Pathology; Disease; Internal medicine; Radiology; Chemotherapy","score_opus":0.10218576963880811,"score_gpt":0.3796382026628917,"score_spread":0.2774524330240836,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4384205788","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.03415784,0.9579178,0.0013088682,0.001297926,0.00086416485,0.000048127178,0.00017641902,0.00010904785,0.0041198735],"genre_scores_gemma":[0.107806265,0.88309634,0.00157771,0.0023798854,0.0029097728,0.00003578677,0.00041384416,0.000028595769,0.0017518863],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9997341,0.000025011397,0.00009748276,0.00006534442,0.000051194034,0.000026797383],"domain_scores_gemma":[0.9996152,0.00015589534,0.00011037001,0.000015598167,0.000054010878,0.00004895342],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00025814225,0.0008170218,0.0014206865,0.0025479612,0.00032144482,0.00062423677,0.0009135294,0.0010318413,0.0010216029],"category_scores_gemma":[0.00065288314,0.00022476606,0.0004620234,0.00241212,0.0005785076,0.0008959131,0.00030798875,0.00068530324,0.00057926483],"study_design_candidate":"case_report","study_design_consensus":"case_report","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00031791124,0.00023483338,0.015584637,0.019166445,0.0005767119,0.59385437,0.00072256476,0.0006570519,0.011045022,0.00094376795,0.03150677,0.3253899],"study_design_scores_gemma":[0.000020496993,0.00016853701,0.01849587,0.0026668734,0.00067421654,0.9070596,0.00050562195,0.00028270166,0.0020069364,0.00054920604,0.067501485,0.00006841544],"about_ca_topic_score_codex":0.0008615859,"about_ca_topic_score_gemma":0.0010156038,"teacher_disagreement_score":0.0025479612,"about_ca_system_score_codex":0.00042724394,"about_ca_system_score_gemma":0.00046071786,"threshold_uncertainty_score":0.0034175515},"labels":[],"label_agreement":null},{"id":"W4385702453","doi":"10.1186/s13023-023-02817-z","title":"Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Hospital for Sick Children; Dystrophic Epidermolysis Bullosa Research Association","keywords":"Medicine; Dermatology; Quality of life (healthcare); Disease; Epidermolysis bullosa; Distress; Epidermolysis bullosa dystrophica; Internal medicine; Clinical psychology","score_opus":0.015490377771082147,"score_gpt":0.2924897527272582,"score_spread":0.27699937495617605,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4385702453","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9959638,0.0022437305,0.00008827687,0.0000636735,0.000007533354,0.000027314867,0.0010355592,0.0000048202933,0.0005652992],"genre_scores_gemma":[0.9985954,0.00060668826,0.000050555165,0.000029649638,0.000007005544,0.000023105325,0.00054604886,0.0000030737344,0.00013842204],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99737155,0.00072084885,0.00056753843,0.00056362094,0.000549328,0.00022715301],"domain_scores_gemma":[0.99331445,0.0012181668,0.003932782,0.0006740817,0.0005669388,0.00029353396],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002063895,0.00026480758,0.00066306035,0.0022153258,0.0004912379,0.0011014038,0.00043672137,0.0005667925,0.0016923395],"category_scores_gemma":[0.009496894,0.00041294436,0.00088377943,0.0041907006,0.00031327637,0.00096354965,0.0008796192,0.000464437,0.00028290285],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00020319255,0.000023912644,0.9974062,0.00008546844,0.00014966042,0.0001982599,0.00020827512,0.000012825922,0.00010079743,0.000025240293,0.00013262025,0.0014536502],"study_design_scores_gemma":[0.000011591285,0.000058217844,0.999009,0.000033089724,0.00010401569,0.00034198991,0.00018779263,0.000046632988,0.000019780762,0.000011499129,0.00017200901,0.000004309509],"about_ca_topic_score_codex":0.013066468,"about_ca_topic_score_gemma":0.014317186,"teacher_disagreement_score":0.013066468,"about_ca_system_score_codex":0.000435401,"about_ca_system_score_gemma":0.0006349567,"threshold_uncertainty_score":0.02598083},"labels":[],"label_agreement":null},{"id":"W4386325783","doi":"10.1186/s13023-023-02869-1","title":"Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Alberta","funders":"NBIA Disorders Association","keywords":"Dystonia; Parkinsonism; Pediatrics; Disease; Neurodegeneration; Medicine; Cohort; Psychology; Psychiatry; Pathology","score_opus":0.03738929133257842,"score_gpt":0.25061910150136857,"score_spread":0.21322981016879014,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4386325783","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.999311,0.00007042739,0.00002955129,0.00006945113,0.0000022979293,0.000017825134,0.00026802253,0.0000016431927,0.0002297971],"genre_scores_gemma":[0.9993394,0.00011729243,0.00006330838,0.00007817877,0.0000036463746,0.000033679982,0.00027561816,0.0000014713814,0.00008731683],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99780935,0.001134805,0.00026258628,0.00017472259,0.00028244106,0.00033617625],"domain_scores_gemma":[0.9947325,0.0013621888,0.0018387963,0.00016132262,0.0008937918,0.0010113703],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0030604664,0.0002781492,0.00046036625,0.0011635992,0.00092909543,0.0010762393,0.00035950076,0.0006606675,0.0011248704],"category_scores_gemma":[0.00791805,0.00029836808,0.0005572649,0.0013337001,0.00057706475,0.0010543545,0.0017267582,0.0007099792,0.00026099492],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00008085632,0.00013066268,0.9881429,0.00004860134,0.00004233412,0.00016396072,0.0081373425,0.000044877535,0.00007996738,0.000013537226,0.00032597562,0.0027889754],"study_design_scores_gemma":[0.000010517294,0.00037703986,0.9681372,0.000043575306,0.000024943234,0.00044801223,0.03008588,0.00018128038,0.000061964725,0.000017873688,0.0005902594,0.00002150961],"about_ca_topic_score_codex":0.009879575,"about_ca_topic_score_gemma":0.0127542205,"teacher_disagreement_score":0.009879575,"about_ca_system_score_codex":0.00075007806,"about_ca_system_score_gemma":0.00057988527,"threshold_uncertainty_score":0.019644141},"labels":[],"label_agreement":null},{"id":"W4386325928","doi":"10.1186/s13023-023-02799-y","title":"Psychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a scoping review","year":2023,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Toronto Rehabilitation Institute; North York General Hospital; Public Health Ontario; Toronto General Hospital; University of Toronto; University Health Network","funders":"","keywords":"Psychological intervention; CINAHL; PsycINFO; Clinical psychology; Psychoeducation; MEDLINE; Anxiety; Cognitive behavioral therapy; Medicine; Psychology; Psychiatry","score_opus":0.09664325489939159,"score_gpt":0.4347046513823661,"score_spread":0.3380613964829745,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4386325928","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00072117185,0.99792457,0.00007721488,0.00035167998,0.00015152465,0.00023841084,0.00006745884,0.000005298862,0.00046259369],"genre_scores_gemma":[0.0055706617,0.99284595,0.00034135018,0.00043162124,0.00009970045,0.0005163185,0.00007965849,0.0000032211517,0.000111568195],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.994541,0.002259738,0.0017461902,0.00028512217,0.00096355,0.00020438203],"domain_scores_gemma":[0.97431767,0.021291815,0.0028827384,0.0002309437,0.0010888288,0.00018795942],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.007895958,0.001278861,0.004332117,0.007852753,0.0009302673,0.0032609846,0.0018803753,0.003375398,0.005357914],"category_scores_gemma":[0.040765423,0.0007403832,0.00418457,0.006760286,0.00079235,0.0019410241,0.0015326762,0.0016708744,0.00040196508],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0002125592,0.00009101372,0.00048112473,0.8246208,0.0025226413,0.000112402275,0.00052079145,0.00016410803,0.00013077608,0.0005579649,0.0031356583,0.16745023],"study_design_scores_gemma":[0.00012885431,0.0001298398,0.0016162617,0.972935,0.006660252,0.00019382808,0.00040120725,0.000056797402,0.00008556618,0.00025965273,0.017519692,0.000013028292],"about_ca_topic_score_codex":0.0057532,"about_ca_topic_score_gemma":0.009813004,"teacher_disagreement_score":0.007895958,"about_ca_system_score_codex":0.003254814,"about_ca_system_score_gemma":0.009189841,"threshold_uncertainty_score":0.04175836},"labels":[],"label_agreement":null},{"id":"W4386687032","doi":"10.1186/s13023-023-02753-y","title":"Financing repurposed drugs for rare diseases: a case study of Unravel Biosciences","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":6,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Artificial Intelligence in Medicine (Canada)","funders":"Massachusetts Institute of Technology; Rockefeller Foundation","keywords":"Algorithm; Computer science; Machine learning; Valuation (finance); Portfolio; Pairwise comparison; Artificial intelligence; Finance; Database; Economics","score_opus":0.20281829510554733,"score_gpt":0.4090480792755337,"score_spread":0.20622978416998639,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4386687032","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9520228,0.002284643,0.020711424,0.0051051616,0.000037447935,0.0003645924,0.0005873876,0.00009208497,0.018794516],"genre_scores_gemma":[0.9885074,0.0011735148,0.0072180997,0.00020013846,0.000049291368,0.00009779788,0.00019265656,0.000016633243,0.002544544],"study_design_codex":"simulation_or_modeling","study_design_gemma":"not_applicable","domain_scores_codex":[0.9974739,0.001580929,0.00009243459,0.0001711422,0.00035744967,0.00032422182],"domain_scores_gemma":[0.97763705,0.01755756,0.0022312556,0.00063134497,0.00065407396,0.0012887515],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006187631,0.0008135856,0.0006156971,0.001593114,0.0014616888,0.0028082072,0.0013399541,0.0031269584,0.0044994582],"category_scores_gemma":[0.012658147,0.000391487,0.0010691783,0.0017255709,0.0014481898,0.0025359844,0.0017623479,0.0026549618,0.00047521113],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0018130529,0.006284517,0.17014933,0.00090433966,0.00047499745,0.035708245,0.0036556628,0.42017844,0.003484125,0.24900691,0.016343165,0.09199722],"study_design_scores_gemma":[0.0018654274,0.004728704,0.068649806,0.00067125517,0.0004132459,0.0147599755,0.01132923,0.72173417,0.008899181,0.11184461,0.054683037,0.00042130402],"about_ca_topic_score_codex":0.0068769874,"about_ca_topic_score_gemma":0.006359845,"teacher_disagreement_score":0.0068769874,"about_ca_system_score_codex":0.0031864475,"about_ca_system_score_gemma":0.0019339933,"threshold_uncertainty_score":0.032723725},"labels":[],"label_agreement":null},{"id":"W4386745674","doi":"10.1186/s13023-023-02911-2","title":"Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis","year":2023,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":108,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Ontario Stroke Network; University of Toronto; University Health Network; SickKids Foundation; Hospital for Sick Children; Public Health Ontario","funders":"","keywords":"Incidence (geometry); Meta-analysis; Medicine; CINAHL; Prevalence; MEDLINE; Systematic review; Epidemiology; Pediatrics; Demography; Internal medicine; Psychological intervention; Psychiatry; Biology","score_opus":0.07046623207665517,"score_gpt":0.3431329767047255,"score_spread":0.2726667446280703,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4386745674","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0023300946,0.9958334,0.00045666893,0.00021206163,0.00013953613,0.00023004391,0.0006031454,0.000018640407,0.00017636614],"genre_scores_gemma":[0.085928366,0.9069488,0.0032778066,0.0007644622,0.00030438032,0.0014627152,0.0010683236,0.000028997994,0.00021612221],"study_design_codex":"systematic_review","study_design_gemma":"meta_analysis","domain_scores_codex":[0.97900796,0.009328249,0.006282328,0.0020599863,0.0028025794,0.0005189244],"domain_scores_gemma":[0.9633186,0.025383443,0.0065972656,0.0009786,0.003402398,0.0003197905],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02665493,0.003397484,0.02057557,0.011673683,0.0006011039,0.0041761375,0.0024462023,0.002467801,0.0039110174],"category_scores_gemma":[0.06777661,0.0020369415,0.034093816,0.011379124,0.0007205321,0.0028675538,0.0018527973,0.0020223295,0.00033077496],"study_design_candidate":"meta_analysis","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0008692494,0.000022800956,0.004998656,0.5371413,0.4408796,0.00013667847,0.00010119633,0.0005193033,0.00014893933,0.00015297906,0.00095364865,0.014075584],"study_design_scores_gemma":[0.00047228334,0.00018088153,0.0065213745,0.09069514,0.898635,0.00024363007,0.00006941583,0.00020927367,0.000109164874,0.00023647599,0.0025907157,0.000036519268],"about_ca_topic_score_codex":0.0069047697,"about_ca_topic_score_gemma":0.01676563,"teacher_disagreement_score":0.02665493,"about_ca_system_score_codex":0.0037275758,"about_ca_system_score_gemma":0.0051856255,"threshold_uncertainty_score":0.14096642},"labels":[],"label_agreement":null},{"id":"W4387256124","doi":"10.1186/s13023-023-02875-3","title":"Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Fundação Instituto de Pesquisas Econômicas","keywords":"Epworth Sleepiness Scale; Hyposmia; Cohort; Internal medicine; REM sleep behavior disorder; Montreal Cognitive Assessment; Medicine; Excessive daytime sleepiness; Glucocerebrosidase; Population; Actigraphy; Huntington's disease; Enzyme replacement therapy; Disease; Sleep disorder; Parkinson's disease; Psychiatry; Polysomnography; Dementia; Insomnia","score_opus":0.011698274556696194,"score_gpt":0.2648963388860983,"score_spread":0.2531980643294021,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4387256124","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99955624,0.00012886398,0.000014679965,0.00001072436,0.0000020795676,0.000006121721,0.00012213692,0.0000012768128,0.00015789722],"genre_scores_gemma":[0.99942565,0.000083833314,0.00004084455,0.000015521422,0.0000041290336,0.0000066987736,0.00031259537,6.0893495e-7,0.00011009722],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9998148,0.000025007503,0.000029693743,0.000051368024,0.00003542266,0.000043786604],"domain_scores_gemma":[0.99947935,0.000049540035,0.0002065927,0.00003087443,0.000106271706,0.00012733317],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00032779048,0.0003140862,0.00040953292,0.00078301225,0.0006093714,0.00049541105,0.00021084506,0.00046195384,0.00057520624],"category_scores_gemma":[0.0012088502,0.00020319532,0.0004123348,0.0006028877,0.00016977945,0.00038958213,0.00031581605,0.00040765142,0.00020843782],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00012339115,0.000027611879,0.9985014,0.0000045276215,0.000014164446,0.00034313218,0.000097166834,0.00001094316,0.000251542,0.000002223134,0.000024129211,0.0005997628],"study_design_scores_gemma":[0.0000038099563,0.00013981882,0.9988954,0.0000030089493,0.000014724068,0.0006907232,0.0001058026,0.000029377967,0.00004609465,0.000004121581,0.00006504598,0.0000019612946],"about_ca_topic_score_codex":0.007527804,"about_ca_topic_score_gemma":0.008502202,"teacher_disagreement_score":0.007527804,"about_ca_system_score_codex":0.00041339942,"about_ca_system_score_gemma":0.0002948348,"threshold_uncertainty_score":0.014967978},"labels":[],"label_agreement":null},{"id":"W4387428176","doi":"10.1186/s13023-023-02928-7","title":"Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective","year":2023,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Growth Hormone and Insulin-like Growth Factors","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Ipsen; Ipsen Biopharmaceuticals","keywords":"Medicine; Stakeholder; Short stature; Quality of life (healthcare); Pediatrics; Nursing; Political science","score_opus":0.1294862358265951,"score_gpt":0.34618163212950936,"score_spread":0.21669539630291426,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4387428176","genre_codex":"commentary","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.09492514,0.026361443,0.0054379036,0.84046346,0.0047229244,0.00025358502,0.00013678567,0.000109233035,0.027589485],"genre_scores_gemma":[0.81571275,0.028948484,0.010682524,0.137312,0.0016762072,0.00045490373,0.00017645623,0.000106758016,0.004929871],"study_design_codex":"qualitative","study_design_gemma":"not_applicable","domain_scores_codex":[0.97026324,0.021155894,0.0013567173,0.0009050313,0.0023426777,0.003976381],"domain_scores_gemma":[0.95950973,0.012536726,0.0021118515,0.0005416601,0.0058721313,0.019427873],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02520247,0.000745971,0.0008446734,0.0010970378,0.010122726,0.006873894,0.0022750986,0.0067831273,0.0044020265],"category_scores_gemma":[0.02836577,0.0004733636,0.0009384777,0.00087785005,0.0058778273,0.007150625,0.017526053,0.010726193,0.0006795657],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0002202632,0.00074495253,0.037416115,0.0035671105,0.00021627863,0.017190935,0.5763181,0.0008579823,0.0036911198,0.026986608,0.1530076,0.17978293],"study_design_scores_gemma":[0.00003184863,0.00038410316,0.0068174587,0.004611854,0.0000627286,0.0050732065,0.7492818,0.0006563292,0.00043355857,0.01587727,0.21660312,0.00016667624],"about_ca_topic_score_codex":0.0058941804,"about_ca_topic_score_gemma":0.0074817883,"teacher_disagreement_score":0.02520247,"about_ca_system_score_codex":0.004180072,"about_ca_system_score_gemma":0.020741923,"threshold_uncertainty_score":0.13328499},"labels":[],"label_agreement":null},{"id":"W4387847834","doi":"10.1186/s13023-023-02937-6","title":"Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":31,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Dalhousie University","funders":"Chiesi USA","keywords":"Medicine; Enzyme replacement therapy; Adverse effect; Internal medicine; Incidence (geometry); Renal function; Urology; Tolerability; Surgery; Disease","score_opus":0.026780811614171358,"score_gpt":0.32090085177424105,"score_spread":0.2941200401600697,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4387847834","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9972416,0.0015290392,0.00015750965,0.00010459815,0.000019828116,0.00025511978,0.00019869885,0.000019105848,0.00047448176],"genre_scores_gemma":[0.99652916,0.0006061112,0.0003607377,0.0007820544,0.00009274623,0.00048177713,0.00070350064,0.0000069624916,0.00043698057],"study_design_codex":"randomized_trial","study_design_gemma":"nonrandomized_trial","domain_scores_codex":[0.9996018,0.00018299212,0.00003312929,0.00007103327,0.00005655327,0.000054499153],"domain_scores_gemma":[0.9990595,0.00021679042,0.00024838085,0.00006157756,0.00006386727,0.0003499072],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002030156,0.00063724985,0.0018747412,0.00026949664,0.0003561808,0.0008900011,0.00036677238,0.001219931,0.001955667],"category_scores_gemma":[0.0012930059,0.00031197927,0.0010554368,0.00024228782,0.0004887058,0.00085404975,0.00032282653,0.0013525628,0.00043146446],"study_design_candidate":"nonrandomized_trial","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.5649132,0.055054806,0.101022474,0.0013586481,0.0029985835,0.0016194789,0.0011666717,0.0013475916,0.08557182,0.00025959325,0.0054193377,0.17926773],"study_design_scores_gemma":[0.33495983,0.49947643,0.14986597,0.000114023656,0.0013438623,0.001250148,0.00021049114,0.0025472296,0.004902951,0.0002163467,0.0050363485,0.00007630049],"about_ca_topic_score_codex":0.00023679301,"about_ca_topic_score_gemma":0.00039388993,"teacher_disagreement_score":0.002030156,"about_ca_system_score_codex":0.00040596214,"about_ca_system_score_gemma":0.00044630686,"threshold_uncertainty_score":0.010736585},"labels":[],"label_agreement":null},{"id":"W4390791175","doi":"10.1186/s13023-023-02974-1","title":"Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University","funders":"Sanofi","keywords":"Context (archaeology); Clinical endpoint; Clinical trial; Medicine; Orphan drug; Confidence interval; Internal medicine; Physical therapy; Bioinformatics","score_opus":0.10074793422626772,"score_gpt":0.4411992037223181,"score_spread":0.34045126949605037,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4390791175","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.71859056,0.009677653,0.24588634,0.0022276079,0.0008168834,0.011864011,0.0053613028,0.0009883008,0.0045873183],"genre_scores_gemma":[0.8774969,0.00056312984,0.10838683,0.0011582884,0.00024682374,0.008346843,0.0025591077,0.00023871403,0.0010032315],"study_design_codex":"design_other","study_design_gemma":"observational","domain_scores_codex":[0.6682709,0.29949617,0.009842721,0.008173829,0.012690111,0.0015262852],"domain_scores_gemma":[0.5959899,0.36084142,0.017858375,0.01725845,0.006634416,0.00141746],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.20855005,0.0021686205,0.005324639,0.004134164,0.00084617495,0.0020739697,0.0018412671,0.0022107246,0.0041409032],"category_scores_gemma":[0.23540035,0.0006584395,0.010287005,0.0025055776,0.0018435576,0.0018322582,0.0028725145,0.0035778144,0.0005130033],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.2279583,0.0047399527,0.2577046,0.00942552,0.12486276,0.003452234,0.0026348596,0.052393477,0.010686665,0.01192104,0.012627588,0.281593],"study_design_scores_gemma":[0.049584147,0.10369325,0.27491397,0.0012875549,0.052545223,0.004634123,0.0015875596,0.42642558,0.0103362985,0.027937572,0.04606163,0.0009931218],"about_ca_topic_score_codex":0.000636776,"about_ca_topic_score_gemma":0.00085789006,"teacher_disagreement_score":0.20855005,"about_ca_system_score_codex":0.0009927219,"about_ca_system_score_gemma":0.0018330546,"threshold_uncertainty_score":0.9759987},"labels":[],"label_agreement":null},{"id":"W4390972669","doi":"10.1186/s13023-024-03019-x","title":"A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":4,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia; University of Alberta","funders":"PTC Therapeutics","keywords":"Occupational therapy; Medicine; Intellectual disability; Rehabilitation; Empowerment; Genetic enhancement; Physical therapy; Psychiatry; Gene; Genetics; Biology","score_opus":0.0170866285749049,"score_gpt":0.28914653026384246,"score_spread":0.27205990168893757,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4390972669","genre_codex":"commentary","genre_gemma":"other","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0027031477,0.006513067,0.0018742041,0.8264355,0.1402575,0.00043616586,0.0005259326,0.000165749,0.021088794],"genre_scores_gemma":[0.029171253,0.02590471,0.0145213865,0.65630007,0.15846191,0.0025824488,0.0018431235,0.0002814844,0.11093368],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9954782,0.0012602643,0.00077217777,0.0003195412,0.0012873571,0.0008824658],"domain_scores_gemma":[0.9808102,0.005060805,0.0014437453,0.00041517857,0.0066675018,0.005602623],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0066793887,0.00086530263,0.0007879963,0.00062576134,0.0031775557,0.0029145095,0.002081973,0.022372691,0.013406036],"category_scores_gemma":[0.02194505,0.00044951765,0.0012812141,0.0004107391,0.0015288012,0.0019661298,0.002619493,0.013509692,0.011897402],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000066792934,0.00012711436,0.0006884339,0.00027855538,0.000009768711,0.0007483084,0.0002132337,0.00010405688,0.00066900393,0.0018497015,0.9419909,0.05325406],"study_design_scores_gemma":[0.00007133859,0.00022562477,0.0020730523,0.001412585,0.000022690574,0.0007548508,0.0005256224,0.00011410871,0.0004549683,0.00205128,0.9922461,0.00004784612],"about_ca_topic_score_codex":0.0037641511,"about_ca_topic_score_gemma":0.009823644,"teacher_disagreement_score":0.022372691,"about_ca_system_score_codex":0.0024011643,"about_ca_system_score_gemma":0.012368841,"threshold_uncertainty_score":0.044847667},"labels":[],"label_agreement":null},{"id":"W4391175683","doi":"10.1186/s13023-023-03008-6","title":"Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hotel Dieu Hospital","funders":"","keywords":"SMA*; Discontinuation; Spinal muscular atrophy; Medicine; Population; Context (archaeology); Physical therapy; Family medicine; Internal medicine; Disease; Computer science","score_opus":0.023720963115168393,"score_gpt":0.3271594239316439,"score_spread":0.30343846081647546,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4391175683","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.89400274,0.012362315,0.007376306,0.06343009,0.0021378018,0.0007781921,0.00083020964,0.00012211691,0.018960355],"genre_scores_gemma":[0.97563076,0.0040088207,0.01119407,0.0049710204,0.0010271765,0.0008386341,0.00048289457,0.00003460407,0.0018120336],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9876967,0.009355269,0.00087780424,0.0005110813,0.00092760153,0.00063159637],"domain_scores_gemma":[0.97140425,0.008234206,0.007046633,0.00057240465,0.0023031516,0.010439271],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006805124,0.00019324927,0.00019106969,0.0008722678,0.0016318595,0.0013986148,0.0006700468,0.000917025,0.0047652684],"category_scores_gemma":[0.019137708,0.00020831445,0.00038252378,0.00074146705,0.0007213937,0.0012666339,0.0040310742,0.0016733143,0.00041027225],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.001169868,0.0015001447,0.44798315,0.002341371,0.0002217475,0.008665993,0.055080175,0.0010765112,0.0022719593,0.004615398,0.089316495,0.38575712],"study_design_scores_gemma":[0.00052666717,0.0023532212,0.4746739,0.006196563,0.0001582738,0.013981605,0.15851799,0.00436889,0.001533376,0.008156053,0.3292355,0.00029801665],"about_ca_topic_score_codex":0.0010369197,"about_ca_topic_score_gemma":0.0020687673,"teacher_disagreement_score":0.006805124,"about_ca_system_score_codex":0.0017845784,"about_ca_system_score_gemma":0.0035515286,"threshold_uncertainty_score":0.035989344},"labels":[],"label_agreement":null},{"id":"W4391329726","doi":"10.1186/s13023-023-02992-z","title":"Medication use during pregnancy and the risk of gastroschisis: a systematic review and meta-analysis of observational studies","year":2024,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Congenital Anomalies and Fetal Surgery","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"","keywords":"Gastroschisis; Medicine; Relative risk; Obstetrics; Pregnancy; Meta-analysis; Confidence interval; Observational study; Internal medicine; Fetus","score_opus":0.12498324041190294,"score_gpt":0.3527649135769692,"score_spread":0.22778167316506626,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4391329726","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.004384998,0.99439806,0.0003491086,0.00012482479,0.0001159095,0.00020726235,0.00030828125,0.000012950995,0.00009870848],"genre_scores_gemma":[0.11105166,0.8843261,0.0020352344,0.0005478197,0.00023089568,0.0009849538,0.000637011,0.000018184885,0.00016810582],"study_design_codex":"meta_analysis","study_design_gemma":"meta_analysis","domain_scores_codex":[0.98787886,0.0052255015,0.004285704,0.001056851,0.0012355604,0.00031753583],"domain_scores_gemma":[0.97140366,0.02019123,0.00528014,0.0008230011,0.0019930878,0.00030890486],"candidate_categories":["metaepi_broad"],"consensus_categories":[],"category_scores_codex":[0.015866322,0.0028380423,0.020292869,0.00880097,0.0007248292,0.0034332876,0.002142301,0.002332963,0.0020741818],"category_scores_gemma":[0.039640162,0.001827975,0.039064202,0.010600208,0.00077606406,0.0016692597,0.0016812065,0.0018696416,0.00020076091],"study_design_candidate":"meta_analysis","study_design_consensus":"meta_analysis","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0011348118,0.000028330538,0.005865954,0.3541978,0.62992376,0.00015426986,0.00008438866,0.00040164564,0.00017333965,0.00007566584,0.00033578885,0.007624236],"study_design_scores_gemma":[0.00024585184,0.00013779377,0.0034506659,0.018930051,0.9760789,0.00009975538,0.000038130733,0.0001183028,0.00007572325,0.00009657215,0.00071001146,0.000018155788],"about_ca_topic_score_codex":0.007005802,"about_ca_topic_score_gemma":0.01333263,"teacher_disagreement_score":0.9797071,"about_ca_system_score_codex":0.002825027,"about_ca_system_score_gemma":0.004578119,"threshold_uncertainty_score":0.08391017},"labels":[],"label_agreement":null},{"id":"W4391399720","doi":"10.1186/s13023-024-03046-8","title":"Rett syndrome in Ireland: a demographic study","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Trinity College","funders":"European Regional Development Fund; Irish Research Council; Science Foundation Ireland; Meath Foundation; Fondation Jérôme Lejeune; International Rett Syndrome Foundation","keywords":"Rett syndrome; MECP2; Population; Irish; Medicine; Human genetics; Psychiatry; Psychology; Genetics; Biology; Environmental health; Phenotype","score_opus":0.0070408335787871205,"score_gpt":0.23869883759699326,"score_spread":0.23165800401820613,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4391399720","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.996234,0.00014958151,0.00009958272,0.00018115439,0.000012371064,0.000068983085,0.0014989146,0.0000063449934,0.0017491512],"genre_scores_gemma":[0.9964437,0.00039297176,0.00022830188,0.0003215044,0.000031032316,0.00015541511,0.0017347352,0.000009604144,0.0006828236],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9991855,0.0001272603,0.00010655502,0.00020651305,0.00018269417,0.000191364],"domain_scores_gemma":[0.9990645,0.00007747179,0.00028833852,0.000055319408,0.00019075579,0.00032360424],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006172321,0.00033245716,0.0004957091,0.0018663885,0.0009442884,0.0006864268,0.0004961816,0.00053341995,0.0020769255],"category_scores_gemma":[0.0015542101,0.00031530642,0.00053024257,0.0017197768,0.0004952389,0.0008851468,0.0012676048,0.00075376505,0.0007475683],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00008341522,0.00013787739,0.9909046,0.000028163287,0.00002023743,0.0028314628,0.0012472332,0.00004511464,0.00034855993,0.000060901424,0.001098402,0.0031939389],"study_design_scores_gemma":[0.0000103604925,0.00029025663,0.9869752,0.000030130588,0.000014346596,0.007675724,0.0030411598,0.00011025832,0.00004653034,0.000033732205,0.0017525168,0.000019824849],"about_ca_topic_score_codex":0.025513679,"about_ca_topic_score_gemma":0.020814551,"teacher_disagreement_score":0.025513679,"about_ca_system_score_codex":0.0014497187,"about_ca_system_score_gemma":0.0013449256,"threshold_uncertainty_score":0.050730348},"labels":[],"label_agreement":null},{"id":"W4391445399","doi":"10.1186/s13023-024-03038-8","title":"Cronkhite‒Canada syndrome as inflammatory hamartomatous polyposis: new evidence from whole transcriptome sequencing of colonic polyps","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"National Foundation for Medical Research and Innovation","keywords":"Transcriptome; Biology; MMP1; Innate immune system; Wnt signaling pathway; CXCL1; Gene expression profiling; Inflammatory bowel disease; Immune system; Chemokine; Cancer research; Immunology; Signal transduction; Pathology; Medicine; Cell biology; Gene expression; Genetics; Disease; Gene","score_opus":0.015152823571716097,"score_gpt":0.25815289215958026,"score_spread":0.24300006858786416,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4391445399","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.98740256,0.0044812853,0.0041587725,0.0003219537,0.000042895364,0.000028959561,0.0025263738,0.000073241325,0.00096392643],"genre_scores_gemma":[0.9878401,0.0019322815,0.005731791,0.00033671752,0.000043748845,0.000041753563,0.0035353412,0.000039679086,0.00049843726],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.9996362,0.000031218075,0.000020231704,0.00012962382,0.00013139994,0.00005122101],"domain_scores_gemma":[0.99948907,0.00013622713,0.00014490895,0.00005211406,0.000101294616,0.000076414384],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00026119628,0.00036815996,0.0003093734,0.00065091794,0.00034949742,0.0006105658,0.00021485004,0.00047353032,0.000629443],"category_scores_gemma":[0.00068805926,0.00015026049,0.00027513062,0.0006628746,0.00036853764,0.00018571701,0.00034563325,0.0004222011,0.00017177551],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0005537841,0.00003153497,0.11107666,0.00045538007,0.00021869552,0.003987654,0.00046105875,0.0006211422,0.85921633,0.00027565987,0.0010138064,0.022088226],"study_design_scores_gemma":[0.000042199383,0.00018359514,0.9019225,0.00015448352,0.00036503514,0.014533159,0.00057212875,0.0045855693,0.05964501,0.0007904523,0.017156506,0.000049464645],"about_ca_topic_score_codex":0.0028029361,"about_ca_topic_score_gemma":0.0065177116,"teacher_disagreement_score":0.0028029361,"about_ca_system_score_codex":0.00036675594,"about_ca_system_score_gemma":0.0004448141,"threshold_uncertainty_score":0.005573213},"labels":[],"label_agreement":null},{"id":"W4391815864","doi":"10.1186/s13023-024-03059-3","title":"EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders","year":2024,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":21,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Novartis Pharma; Prinses Beatrix Spierfonds; Ataxia UK; Argenx; Alexion Pharmaceuticals; E-Rare; Cytokinetics; Amicus Therapeutics; CSL Behring; Medical Research Council; AveXis; Biogen; European Commission; Sanofi; Third Health Programme; Ipsen; Alnylam Pharmaceuticals; Italfarmaco; Wellcome Trust; Ministero della Salute; Pfizer","keywords":"Disease registry; Interoperability; Patient registry; Medicine; Neuromuscular disease; Health information exchange; European commission; Business; Disease; Computer science; Health care; Family medicine; Pathology; World Wide Web; Pediatrics; Political science; European union","score_opus":0.01660152034423282,"score_gpt":0.2963952726096451,"score_spread":0.27979375226541225,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4391815864","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.012751972,0.61588085,0.19971815,0.06736727,0.008388336,0.0020368975,0.007095876,0.0047674184,0.08199321],"genre_scores_gemma":[0.1866105,0.4475001,0.29921252,0.01877171,0.0045678117,0.0038908855,0.022352315,0.0008538131,0.016240384],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.99123365,0.00436698,0.0013455863,0.0008093495,0.001824929,0.00041953556],"domain_scores_gemma":[0.9870235,0.005889726,0.0014768917,0.002394217,0.0021232585,0.0010924664],"candidate_categories":["open_science"],"consensus_categories":[],"category_scores_codex":[0.02496373,0.00043810575,0.0008397895,0.0041648718,0.00063738745,0.0041587944,0.0030391277,0.0021130173,0.004106925],"category_scores_gemma":[0.02146028,0.00027986095,0.0011386138,0.0043168436,0.001645918,0.005773583,0.005874309,0.0018091843,0.0017127638],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00020279511,0.00010589848,0.003121965,0.006507804,0.00024890667,0.0004544096,0.0007423429,0.0021942246,0.00059167214,0.26982656,0.07987129,0.6361322],"study_design_scores_gemma":[0.000065218715,0.000072398754,0.0020180487,0.0063793627,0.00011997126,0.001235044,0.00019400835,0.00069590454,0.0004883019,0.021148402,0.9675487,0.000034701345],"about_ca_topic_score_codex":0.002281243,"about_ca_topic_score_gemma":0.0012037307,"teacher_disagreement_score":0.9969609,"about_ca_system_score_codex":0.0025065204,"about_ca_system_score_gemma":0.011602135,"threshold_uncertainty_score":0.13202238},"labels":[],"label_agreement":null},{"id":"W4391997648","doi":"10.1186/s13023-024-03044-w","title":"A systematic review on the birth prevalence of metachromatic leukodystrophy","year":2024,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Inro Consultants (Canada)","funders":"","keywords":"Metachromatic leukodystrophy; Medicine; Incidence (geometry); Epidemiology; Pediatrics; Population; Internal medicine; Pathology; Environmental health","score_opus":0.04132505601439564,"score_gpt":0.35026049162514095,"score_spread":0.3089354356107453,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4391997648","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0020827642,0.994559,0.00014969618,0.00032406548,0.0001167751,0.00031233832,0.0019658492,0.000009849804,0.00047976244],"genre_scores_gemma":[0.018644342,0.9785969,0.000550734,0.00051994313,0.00007686039,0.00066833413,0.00080727687,0.000007949802,0.00012768275],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.9892635,0.0029743635,0.0052928226,0.00077654904,0.0014245505,0.00026823345],"domain_scores_gemma":[0.9662216,0.02177614,0.007931137,0.00041833278,0.0032832453,0.00036951483],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0074325227,0.0015153886,0.010104247,0.01808463,0.0006051963,0.0029416543,0.0019611341,0.0017191825,0.006511055],"category_scores_gemma":[0.03584673,0.0010441686,0.0073430804,0.018300604,0.00092381897,0.0024700088,0.001843726,0.0010668403,0.00045888143],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0001566584,0.00000769623,0.001189001,0.97476476,0.0073433705,0.00009851042,0.0001771668,0.00004765252,0.00009417724,0.00015448843,0.0010796902,0.014886836],"study_design_scores_gemma":[0.0001845538,0.00013027815,0.0075934064,0.9064955,0.06896041,0.0004734024,0.00035150585,0.00005318126,0.000108695436,0.00021901264,0.015396466,0.00003356673],"about_ca_topic_score_codex":0.009893425,"about_ca_topic_score_gemma":0.022196552,"teacher_disagreement_score":0.01808463,"about_ca_system_score_codex":0.003299291,"about_ca_system_score_gemma":0.00951669,"threshold_uncertainty_score":0.039307415},"labels":[],"label_agreement":null},{"id":"W4392164907","doi":"10.1186/s13023-023-02994-x","title":"Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex","year":2024,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"GW Pharmaceuticals","keywords":"Guideline; Tuberous sclerosis; Rett syndrome; Medicine; Systematic review; Grey literature; Pediatrics; MEDLINE; Family medicine; Psychiatry; Pathology; Political science","score_opus":0.15766785685315235,"score_gpt":0.4021986536904211,"score_spread":0.24453079683726878,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4392164907","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0013220414,0.9892875,0.0007871926,0.004449253,0.0005371457,0.00045238718,0.00093387126,0.000038168768,0.0021924314],"genre_scores_gemma":[0.007401979,0.98517126,0.0036465484,0.0019841753,0.0002004074,0.00052963133,0.00078025775,0.000012634239,0.0002730205],"study_design_codex":"systematic_review","study_design_gemma":"not_applicable","domain_scores_codex":[0.9889598,0.0034778244,0.0049833143,0.0005286807,0.0017713078,0.00027903783],"domain_scores_gemma":[0.9578606,0.025153276,0.008392428,0.0004773058,0.007636231,0.00048020665],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0097926855,0.001018877,0.0028023203,0.021481046,0.0006889008,0.0022972529,0.0023228673,0.0020312036,0.0031780875],"category_scores_gemma":[0.050900355,0.0007415221,0.0030200449,0.018102959,0.00077557244,0.0030053542,0.0017475272,0.0012908384,0.0007667226],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00010223676,0.000045266806,0.0019844258,0.58391315,0.0007868263,0.00052690983,0.0013968566,0.0003982131,0.00041921868,0.0024104705,0.03897401,0.3690425],"study_design_scores_gemma":[0.000063220294,0.00008163068,0.0038663447,0.83397895,0.0031754572,0.0008241502,0.00081865315,0.00013165249,0.00017066956,0.0010000594,0.15585016,0.000039095776],"about_ca_topic_score_codex":0.013638009,"about_ca_topic_score_gemma":0.031521637,"teacher_disagreement_score":0.021481046,"about_ca_system_score_codex":0.00352855,"about_ca_system_score_gemma":0.017383937,"threshold_uncertainty_score":0.051789284},"labels":[],"label_agreement":null},{"id":"W4392296331","doi":"10.1186/s13023-024-03099-9","title":"Cost-of-illness studies of inherited retinal diseases: a systematic review","year":2024,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"","keywords":"MEDLINE; Systematic review; Medicine; Protocol (science); Health care; Total cost; Family medicine; Actuarial science; Alternative medicine; Business; Pathology; Political science; Economics; Economic growth","score_opus":0.040299476391332745,"score_gpt":0.35305268780512145,"score_spread":0.3127532114137887,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4392296331","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0014067736,0.996729,0.00018147824,0.00023645785,0.00008287345,0.0004925635,0.00062465906,0.000008644576,0.00023756403],"genre_scores_gemma":[0.038420826,0.9575458,0.0012703935,0.0006082187,0.000091216934,0.0014789387,0.00046235154,0.000008964114,0.0001132864],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.98254204,0.0066530183,0.006443231,0.0009679037,0.0029246632,0.00046909912],"domain_scores_gemma":[0.93923295,0.044241775,0.011131042,0.00083968765,0.004099578,0.0004548903],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.013452388,0.0017714376,0.011180793,0.014423281,0.0007495233,0.0031941086,0.0022263085,0.0019370525,0.0044937185],"category_scores_gemma":[0.06711048,0.0012688756,0.010787412,0.015060833,0.0010629441,0.0028609436,0.0019661533,0.0015888793,0.00025614045],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00019408057,0.00001114387,0.001050928,0.96874005,0.016552754,0.00007948144,0.0000914149,0.00010668667,0.000058539466,0.00018046945,0.00080501335,0.012129475],"study_design_scores_gemma":[0.0003929138,0.00017750052,0.006174467,0.86955,0.11323468,0.00032591377,0.0002556122,0.00013320622,0.000101433,0.00037668584,0.009240099,0.000037564943],"about_ca_topic_score_codex":0.011811123,"about_ca_topic_score_gemma":0.03648646,"teacher_disagreement_score":0.014423281,"about_ca_system_score_codex":0.0068826005,"about_ca_system_score_gemma":0.013905988,"threshold_uncertainty_score":0.071143925},"labels":[],"label_agreement":null},{"id":"W4392596934","doi":"10.1186/s13023-024-03048-6","title":"Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Alkaline Phosphatase Research Studies","field":"Medicine","cited_by":28,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Manitoba","funders":"Alexion Pharmaceuticals; AstraZeneca","keywords":"Hypophosphatasia; Medicine; Enzyme replacement therapy; Quality of life (healthcare); Observational study; Physical therapy; Pediatrics; Internal medicine; Disease; Alkaline phosphatase","score_opus":0.014873521392942967,"score_gpt":0.3136106110799939,"score_spread":0.2987370896870509,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4392596934","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9888842,0.0023829162,0.00015840631,0.0002254936,0.000013967747,0.00008638931,0.007338194,0.000018262741,0.0008921303],"genre_scores_gemma":[0.99075454,0.0012890855,0.00026641297,0.00017233657,0.00003436619,0.00013283944,0.0072721005,0.000009598558,0.00006867704],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99694294,0.0012778555,0.0006482017,0.0004566533,0.00051217276,0.00016209966],"domain_scores_gemma":[0.9879552,0.002915293,0.006978831,0.00069839106,0.00087041047,0.0005818726],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0046543833,0.00026266795,0.00073987606,0.0011255344,0.00017328768,0.00080827496,0.0004236642,0.0003575004,0.00075966696],"category_scores_gemma":[0.00932745,0.00016681605,0.001261488,0.0027655922,0.0002576023,0.0008171888,0.00069789507,0.00043709727,0.00017522686],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00077218545,0.00005586541,0.9923639,0.00017076875,0.00037327863,0.00004536553,0.00009372118,0.00010579586,0.000059716604,0.000027105818,0.0007547162,0.005177548],"study_design_scores_gemma":[0.00022181631,0.00048459604,0.99706143,0.00007916922,0.00049623527,0.00025035726,0.00025780636,0.00022065167,0.00006478659,0.000020125664,0.000833178,0.000009862061],"about_ca_topic_score_codex":0.0022768322,"about_ca_topic_score_gemma":0.0031508026,"teacher_disagreement_score":0.0046543833,"about_ca_system_score_codex":0.00038887915,"about_ca_system_score_gemma":0.0008313571,"threshold_uncertainty_score":0.02461499},"labels":[],"label_agreement":null},{"id":"W4392597454","doi":"10.1186/s13023-024-03096-y","title":"The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Toronto","funders":"","keywords":"Medicine; Osteogenesis imperfecta; Quality of life (healthcare); Oral health; Cross-sectional study; Craniofacial; Oral hygiene; Dentistry; Pediatrics; Internal medicine; Psychiatry; Pathology","score_opus":0.041351940148124496,"score_gpt":0.3959398909124663,"score_spread":0.3545879507643418,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4392597454","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99908197,0.00026441304,0.0000227259,0.00002144334,0.000003569288,0.000009062795,0.00029866694,0.0000013410961,0.00029675732],"genre_scores_gemma":[0.9992884,0.00015912818,0.000044425004,0.000026787451,0.0000047536946,0.000009193236,0.00036819882,0.0000010109603,0.00009813705],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9995969,0.000094505616,0.000066781715,0.00008061084,0.000097410186,0.000063874875],"domain_scores_gemma":[0.9982529,0.00029880585,0.00083167304,0.000086962435,0.0002690608,0.00026048216],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0010865607,0.00023400414,0.0004689401,0.0009850111,0.00026676056,0.00069035165,0.00031238075,0.00046199834,0.0009151881],"category_scores_gemma":[0.0017684073,0.00022616143,0.0004247364,0.00087730656,0.00022095602,0.00030046134,0.00048358878,0.00039686772,0.000155823],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000044993496,0.00004461241,0.998955,0.0000122879455,0.00003337156,0.000034938563,0.00006938973,0.000016640404,0.000040539144,0.000003994352,0.000046029312,0.0006981668],"study_design_scores_gemma":[0.000004440738,0.00007376925,0.99941444,0.000007757756,0.0000142497,0.00008818437,0.00025412568,0.000035962235,0.000008302247,0.0000045099114,0.00009274965,0.000001479181],"about_ca_topic_score_codex":0.009554435,"about_ca_topic_score_gemma":0.0101158805,"teacher_disagreement_score":0.009554435,"about_ca_system_score_codex":0.00039765204,"about_ca_system_score_gemma":0.00029299018,"threshold_uncertainty_score":0.01899767},"labels":[],"label_agreement":null},{"id":"W4393031685","doi":"10.1186/s13023-024-03126-9","title":"The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University","funders":"Mereo BioPharma; Acceleron; Ultragenyx Pharmaceutical; Sanofi; Alexion Pharmaceuticals; Osteogenesis Imperfecta Foundation","keywords":"Osteogenesis imperfecta; Medicine; Health care; Scoliosis; Family medicine; Gerontology; Psychiatry","score_opus":0.01261596864519333,"score_gpt":0.32994446874866085,"score_spread":0.3173285001034675,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4393031685","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9809575,0.00085105177,0.0011320374,0.0006472923,0.00004260895,0.005998811,0.0072546178,0.000025028907,0.0030910452],"genre_scores_gemma":[0.95222586,0.0020073077,0.0074616843,0.0015630663,0.000085529624,0.028400576,0.006878085,0.00003410329,0.0013437894],"study_design_codex":"observational","study_design_gemma":"qualitative","domain_scores_codex":[0.9953555,0.0025303338,0.00069847604,0.000351323,0.00049068965,0.0005737075],"domain_scores_gemma":[0.99189466,0.0029364615,0.0021521302,0.00047574533,0.0017330346,0.00080785627],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01025388,0.000484649,0.0008837041,0.0021378899,0.0012750226,0.0013671056,0.00076009927,0.00062554755,0.0030278666],"category_scores_gemma":[0.014168336,0.00061273004,0.0008709901,0.0024008458,0.00064420665,0.001620117,0.0024650183,0.0009982004,0.0005708179],"study_design_candidate":"qualitative","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0004960233,0.0011980365,0.902555,0.0017440608,0.00021541842,0.0006853828,0.045698337,0.00017768536,0.00035521298,0.00057030085,0.009634384,0.03667008],"study_design_scores_gemma":[0.00022968522,0.0017499587,0.8806789,0.001539764,0.00017980946,0.0008791267,0.09095826,0.0005745343,0.00035930215,0.00045124858,0.022321241,0.00007826937],"about_ca_topic_score_codex":0.0078061703,"about_ca_topic_score_gemma":0.013964106,"teacher_disagreement_score":0.01025388,"about_ca_system_score_codex":0.0020433872,"about_ca_system_score_gemma":0.0027344353,"threshold_uncertainty_score":0.054228306},"labels":[],"label_agreement":null},{"id":"W4394719784","doi":"10.1186/s13023-024-03090-4","title":"Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Chiesi USA","keywords":"Medicine; Enzyme replacement therapy; Fabry disease; Cross-sectional study; Disease; Abdominal pain; Pediatrics; Physical therapy; Internal medicine; Pathology","score_opus":0.06029842135388313,"score_gpt":0.3680372365249621,"score_spread":0.307738815171079,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4394719784","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9988825,0.00009364284,0.000048035017,0.000068507434,0.000003973997,0.000032122847,0.0005309817,0.0000019242414,0.0003382809],"genre_scores_gemma":[0.99896693,0.00012213187,0.00011552928,0.00014547,0.0000063548323,0.000050472405,0.00048774583,0.0000013710506,0.00010411572],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9985965,0.00067319267,0.00018319239,0.00014879934,0.00023019497,0.00016813885],"domain_scores_gemma":[0.995628,0.0010425192,0.0019573034,0.00015284946,0.0006322422,0.0005870763],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002718268,0.00018428573,0.00030608868,0.0007094942,0.00043193856,0.00076442055,0.00029579207,0.0005936592,0.00084834464],"category_scores_gemma":[0.0062145595,0.00025415907,0.00039806069,0.0008394716,0.00044146038,0.0007883824,0.0008157417,0.0005355199,0.0002586877],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00004787138,0.000083284875,0.9975932,0.000019751427,0.000025634605,0.000032092004,0.0008113438,0.00002658152,0.00005830357,0.00000769857,0.00021855051,0.0010757126],"study_design_scores_gemma":[0.000010349874,0.0002190894,0.9963527,0.00001638962,0.0000130158905,0.00014696711,0.0027072914,0.00012497,0.000027902239,0.000009093933,0.00036485918,0.0000073366896],"about_ca_topic_score_codex":0.007983443,"about_ca_topic_score_gemma":0.01025585,"teacher_disagreement_score":0.007983443,"about_ca_system_score_codex":0.0005531336,"about_ca_system_score_gemma":0.00043180518,"threshold_uncertainty_score":0.015873969},"labels":[],"label_agreement":null},{"id":"W4394766797","doi":"10.1186/s13023-024-03147-4","title":"Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"University of North Carolina at Chapel Hill; Hospital for Sick Children; University of California, San Francisco; University of Toronto; Hospices Civils de Lyon; Northwestern University; Instituto Nacional de Pediatria; Takeda Pharmaceutical Company","keywords":"Hunter syndrome; Mucopolysaccharidosis type II; Medicine; Disease; Mucopolysaccharidosis; Clinical trial; Enzyme replacement therapy; Internal medicine; Neurocognitive; Pediatrics; Cognition; Psychiatry","score_opus":0.020490223184550554,"score_gpt":0.31465361138892783,"score_spread":0.29416338820437726,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4394766797","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.8862838,0.003157623,0.002366567,0.080947585,0.0008050822,0.00048935896,0.00058999343,0.000068895984,0.02529105],"genre_scores_gemma":[0.9858143,0.0016867929,0.0022254817,0.008260759,0.0002473557,0.0004021247,0.00019702344,0.00003638205,0.001129799],"study_design_codex":"qualitative","study_design_gemma":"qualitative","domain_scores_codex":[0.90999687,0.07608067,0.0039996253,0.0015488034,0.0042691873,0.004104733],"domain_scores_gemma":[0.8746264,0.06097918,0.030818727,0.0019621155,0.013888951,0.01772459],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.046679635,0.00027932302,0.0006429177,0.0007563013,0.0051999097,0.005926539,0.0012266372,0.0016211115,0.0037311087],"category_scores_gemma":[0.11712291,0.00034145435,0.00074392225,0.0013428171,0.003832023,0.002867532,0.006084211,0.004742834,0.00056207017],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0011998931,0.00048280557,0.21101445,0.0012705914,0.00015470972,0.0040503247,0.6618037,0.0004782219,0.0014062743,0.0063890354,0.0372863,0.0744637],"study_design_scores_gemma":[0.0002942506,0.0012323392,0.048765577,0.0014880081,0.000103346756,0.003476105,0.8468868,0.00042899954,0.0008232834,0.0029051907,0.093422554,0.00017350721],"about_ca_topic_score_codex":0.0025190653,"about_ca_topic_score_gemma":0.004379304,"teacher_disagreement_score":0.046679635,"about_ca_system_score_codex":0.005961015,"about_ca_system_score_gemma":0.011430402,"threshold_uncertainty_score":0.24686843},"labels":[],"label_agreement":null},{"id":"W4394909179","doi":"10.1186/s13023-024-03167-0","title":"The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"London Health Sciences Centre","funders":"Recordati Rare Diseases","keywords":"Hyperammonemia; Urea cycle; Orotic acid; Medicine; Pediatrics; Ornithine transcarbamylase deficiency; Homocystinuria; Internal medicine; Biology; Arginine; Biochemistry; Methionine","score_opus":0.004374257697927358,"score_gpt":0.2294110472768867,"score_spread":0.22503678957895934,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4394909179","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99511,0.0020364895,0.00015304219,0.00024903537,0.000009303939,0.000013752349,0.00004812128,0.0000072998555,0.0023730227],"genre_scores_gemma":[0.9989322,0.0006836703,0.00018806044,0.000058851558,0.000008767556,0.0000021514013,0.000046116613,0.0000022167367,0.000077903365],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9997224,0.000057010988,0.00005214532,0.000023883498,0.00009359681,0.000050866307],"domain_scores_gemma":[0.99897254,0.0002471608,0.0004246679,0.000029935605,0.00019377073,0.0001319178],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00033277398,0.00014542858,0.000112807706,0.00040172852,0.00042988182,0.000609666,0.00031292177,0.0002638142,0.0006040346],"category_scores_gemma":[0.003397828,0.000067547655,0.00011092742,0.00063363585,0.00047358498,0.0003043526,0.00032311503,0.0002562753,0.000088530476],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00010155888,0.00003676108,0.97143215,0.00005737448,0.000020750866,0.011750865,0.00048520093,0.00013251208,0.0010780855,0.00006577357,0.00034362255,0.014495347],"study_design_scores_gemma":[0.00002067356,0.00030603423,0.88790107,0.0002167578,0.00007708083,0.10192481,0.0026894093,0.00074236403,0.0023801012,0.00018250836,0.0035408002,0.000018413926],"about_ca_topic_score_codex":0.02385229,"about_ca_topic_score_gemma":0.039617054,"teacher_disagreement_score":0.02385229,"about_ca_system_score_codex":0.0011683255,"about_ca_system_score_gemma":0.0013386033,"threshold_uncertainty_score":0.04742688},"labels":[],"label_agreement":null},{"id":"W4394915692","doi":"10.1186/s13023-024-03186-x","title":"Correction: The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study","year":2024,"lang":"en","type":"erratum","venue":"Orphanet Journal of Rare Diseases","topic":"Dental Health and Care Utilization","field":"Dentistry","cited_by":1,"is_retracted":false,"has_abstract":false,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Toronto","funders":"","keywords":"Osteogenesis imperfecta; Cross-sectional study; Oral health; Human genetics; Medicine; Quality of life (healthcare); Environmental health; Dentistry; Gerontology; Biology; Genetics; Nursing; Pathology","score_opus":0.03940057096844258,"score_gpt":0.3806989917083077,"score_spread":0.3412984207398651,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4394915692","genre_codex":"editorial","genre_gemma":"other","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.008570682,0.012696604,0.0007751625,0.09209965,0.85612357,0.000093651164,0.023718858,0.00037657935,0.0055452413],"genre_scores_gemma":[0.39036456,0.042635523,0.010093026,0.07530746,0.20504299,0.0011137808,0.03676965,0.0014805075,0.23719245],"study_design_codex":"not_applicable","study_design_gemma":"observational","domain_scores_codex":[0.9981775,0.00032908627,0.00047171945,0.00028425123,0.00057570066,0.00016177067],"domain_scores_gemma":[0.9885422,0.003724272,0.0017092361,0.00072564324,0.004781337,0.00051726715],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0027045412,0.0010642927,0.0016591098,0.0019039443,0.00072765717,0.001766126,0.0023419154,0.0026431873,0.02699524],"category_scores_gemma":[0.034288008,0.000409401,0.0010080487,0.0027041892,0.0005990032,0.0011403837,0.0007811651,0.0024788666,0.0060838796],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0002163491,0.000017840735,0.010673687,0.0013645443,0.00009875576,0.001216712,0.00009970408,0.00012426561,0.000049657327,0.0006591737,0.9693003,0.016178915],"study_design_scores_gemma":[0.00066641794,0.00014916025,0.11450322,0.007944974,0.00063727,0.008678877,0.0014547731,0.00112732,0.00061543484,0.002553019,0.861474,0.0001955377],"about_ca_topic_score_codex":0.044592295,"about_ca_topic_score_gemma":0.03219578,"teacher_disagreement_score":0.044592295,"about_ca_system_score_codex":0.0017304578,"about_ca_system_score_gemma":0.003767652,"threshold_uncertainty_score":0.09030807},"labels":[],"label_agreement":null},{"id":"W4396669796","doi":"10.1186/s13023-024-03193-y","title":"Scoping review of the recommendations and guidance for improving the quality of rare disease registries","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McMaster University; St. Joseph’s Healthcare Hamilton; McMaster University Medical Centre; Impact; Programs for Assessment of Technology in Health Research Institute","funders":"","keywords":"Interoperability; Documentation; Quality (philosophy); Stakeholder; Corporate governance; Process management; Best practice; Knowledge management; Business; Data quality; Data science; Computer science; World Wide Web; Public relations; Political science; Marketing","score_opus":0.023017663227911194,"score_gpt":0.32439465185414695,"score_spread":0.30137698862623574,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4396669796","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":"methods","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00086212053,0.85736144,0.008065848,0.10076336,0.008765821,0.009939619,0.0037553164,0.0002632219,0.010223192],"genre_scores_gemma":[0.00731891,0.9120471,0.039502822,0.018250283,0.0013291629,0.016056841,0.003702932,0.00012796564,0.0016639289],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.7516525,0.10313331,0.10706462,0.005567357,0.02974724,0.0028349431],"domain_scores_gemma":[0.41128683,0.3748298,0.06466458,0.011670548,0.13335945,0.0041887304],"candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.23097894,0.0035266576,0.009664577,0.06902389,0.0042771343,0.015558978,0.012261014,0.014870842,0.013202977],"category_scores_gemma":[0.59033024,0.0042045075,0.013096879,0.05872076,0.0059279413,0.01852862,0.010950975,0.0086009875,0.0047826655],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00013360564,0.000041036466,0.0009875359,0.6801754,0.001673362,0.00024598397,0.0032188785,0.0006113346,0.00021455972,0.007376414,0.09114085,0.21418099],"study_design_scores_gemma":[0.000035290803,0.000014206245,0.00026398554,0.94133425,0.0011339269,0.00004768602,0.00046177793,0.000082143146,0.000052661482,0.00172109,0.054829307,0.000023698029],"about_ca_topic_score_codex":0.031413455,"about_ca_topic_score_gemma":0.044295616,"teacher_disagreement_score":0.76902103,"about_ca_system_score_codex":0.028577855,"about_ca_system_score_gemma":0.115504324,"threshold_uncertainty_score":0.9483399},"labels":[],"label_agreement":null},{"id":"W4398255398","doi":"10.1186/s13023-024-03168-z","title":"Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"UCB Pharma; CurePSP","keywords":"Medicine; Observational study; Retrospective cohort study; Medical record; Health care; Disease; Progressive supranuclear palsy; Population; Physical therapy; Pediatrics; Internal medicine","score_opus":0.03752296818290034,"score_gpt":0.3211187020572961,"score_spread":0.28359573387439574,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4398255398","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9901232,0.0011592784,0.00020641802,0.00026004596,0.000015421096,0.00016480323,0.006622858,0.000012602535,0.001435225],"genre_scores_gemma":[0.9949071,0.0009603661,0.00038061594,0.0003306967,0.000008611133,0.00009419921,0.0029743265,0.00001005172,0.00033398607],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9965425,0.00041984578,0.00048909435,0.00070939603,0.0010898261,0.0007493473],"domain_scores_gemma":[0.99231064,0.00061777915,0.0020126093,0.00029614268,0.0034065035,0.0013563643],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0022230558,0.00056581123,0.0010144723,0.0027460454,0.0036328977,0.002329464,0.002018887,0.00088963954,0.0015117258],"category_scores_gemma":[0.0056181904,0.0007738475,0.0011560147,0.009859441,0.0014790222,0.00093068613,0.0020464163,0.0011170816,0.00026629705],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000047727666,0.000031000614,0.9981331,0.000029574083,0.00006473171,0.000088182926,0.00042244268,0.000030408864,0.000040592917,0.00003661348,0.00034608794,0.0007295254],"study_design_scores_gemma":[0.000015423113,0.000046047808,0.99703085,0.00006629689,0.000060986393,0.00017177731,0.0017321402,0.00024046583,0.000026416465,0.000021655882,0.00057133706,0.000016573622],"about_ca_topic_score_codex":0.9848231,"about_ca_topic_score_gemma":0.98564595,"teacher_disagreement_score":0.026670104,"about_ca_system_score_codex":0.026670104,"about_ca_system_score_gemma":0.04458293,"threshold_uncertainty_score":0.19350606},"labels":[],"label_agreement":null},{"id":"W4399301477","doi":"10.1186/s13023-024-03218-6","title":"The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University","funders":"Mereo BioPharma","keywords":"Respondent; Medicine; Health care; Socioeconomic status; Demographics; Osteogenesis imperfecta; Demography; Gerontology; Young adult; Family medicine; Environmental health; Population","score_opus":0.010727823462546172,"score_gpt":0.3200377428912211,"score_spread":0.3093099194286749,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4399301477","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.7133644,0.0028504722,0.0013672895,0.0026270915,0.00016575684,0.0041974895,0.2515857,0.0001422577,0.023699535],"genre_scores_gemma":[0.8310186,0.0035210715,0.005583985,0.0019336524,0.00020742252,0.0072998735,0.14426142,0.000044281012,0.0061295424],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9980591,0.00060409063,0.0005743498,0.00013398801,0.00044291193,0.00018549249],"domain_scores_gemma":[0.9945996,0.0008744311,0.0022982245,0.00019198575,0.0013048059,0.00073096267],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0035160047,0.00034709458,0.000494083,0.001643544,0.00033731986,0.00064490235,0.00051520625,0.00049537135,0.0037127621],"category_scores_gemma":[0.0074994853,0.00029065204,0.00065747503,0.0023036771,0.00024542518,0.00096103974,0.0015351101,0.0007873961,0.0012549578],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00042634143,0.00028975308,0.9169886,0.0010026825,0.00019811995,0.00014111167,0.00086416927,0.00037953455,0.00021693081,0.0003874852,0.040068857,0.039036483],"study_design_scores_gemma":[0.00004993726,0.0002762753,0.98079497,0.00027986325,0.000036007244,0.00019941064,0.000554165,0.0001944889,0.00007626776,0.000114321265,0.01740618,0.000018059467],"about_ca_topic_score_codex":0.008681237,"about_ca_topic_score_gemma":0.013367338,"teacher_disagreement_score":0.008681237,"about_ca_system_score_codex":0.00083035324,"about_ca_system_score_gemma":0.0011311236,"threshold_uncertainty_score":0.018594623},"labels":[],"label_agreement":null},{"id":"W4399674099","doi":"10.1186/s13023-024-03224-8","title":"The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Shriners Hospitals for Children - Canada; McGill University","funders":"Fonds de Recherche du Québec - Santé; Centre for Interdisciplinary Research in Rehabilitation","keywords":"Arthrogryposis multiplex congenita; Psychosocial; Arthrogryposis; Medicine; Abandonment (legal); Qualitative research; Interpersonal communication; Psychology; Clinical psychology; Developmental psychology; Psychiatry; Surgery; Social psychology","score_opus":0.021787075373304897,"score_gpt":0.3727605664887748,"score_spread":0.35097349111546994,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4399674099","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99360245,0.0012926991,0.00080152496,0.0014548464,0.00007475766,0.00023422328,0.00022536679,0.000010024974,0.0023039943],"genre_scores_gemma":[0.9951357,0.001800221,0.00078788656,0.00056084344,0.000027347183,0.0003847664,0.000092088725,0.000019271612,0.0011917871],"study_design_codex":"qualitative","study_design_gemma":"qualitative","domain_scores_codex":[0.9934865,0.0040499717,0.00027722536,0.00042904142,0.000496392,0.0012608743],"domain_scores_gemma":[0.9869222,0.008983461,0.0012498174,0.0002609434,0.00097461365,0.0016089748],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.009992816,0.0009398064,0.0014837704,0.0022930314,0.01154099,0.0045594173,0.00222526,0.001988708,0.003120526],"category_scores_gemma":[0.0154685555,0.0009791375,0.00068193435,0.0021439835,0.009536569,0.0042332234,0.0060900617,0.0040974924,0.0003359461],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000011341786,0.000016323453,0.0017463069,0.000103312035,0.0000021934343,0.0007817512,0.9960032,0.000009526009,0.00016943163,0.0002070368,0.00015689932,0.00079271034],"study_design_scores_gemma":[0.0000010060364,0.000017327066,0.0009909975,0.00008470722,0.000001604491,0.0001964544,0.9975405,0.000009159109,0.0000352132,0.000038379683,0.0010806915,0.0000040329355],"about_ca_topic_score_codex":0.0193195,"about_ca_topic_score_gemma":0.039997116,"teacher_disagreement_score":0.0193195,"about_ca_system_score_codex":0.007887088,"about_ca_system_score_gemma":0.006597849,"threshold_uncertainty_score":0.05722505},"labels":[],"label_agreement":null},{"id":"W4399918403","doi":"10.1186/s13023-024-03247-1","title":"An international survey assessing the effects of the duration of attack-free period on health-related quality of life for patients with hereditary angioedema","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"CSL Behring","keywords":"Hereditary angioedema; Duration (music); Medicine; Human genetics; Period (music); Quality of life (healthcare); Quality (philosophy); Pediatrics; Intensive care medicine; Genetics; Biology; Immunology; Nursing","score_opus":0.024598814007892957,"score_gpt":0.32685629569937,"score_spread":0.3022574816914771,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4399918403","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9942941,0.00024617507,0.00014963945,0.00010058301,0.0000073806996,0.000070509624,0.003939057,0.000010152819,0.0011824012],"genre_scores_gemma":[0.9966556,0.0001560847,0.00025086684,0.00008747571,0.000010032597,0.00007167393,0.0025598533,0.0000026709654,0.00020577987],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9987363,0.00042167126,0.00024567347,0.00016500455,0.00026907073,0.00016226491],"domain_scores_gemma":[0.9932168,0.0012870441,0.003541092,0.00024336815,0.0009040853,0.000807526],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0022752557,0.0002309914,0.00038678027,0.0011728627,0.00025384763,0.00037668043,0.0002673951,0.00034383914,0.0011055182],"category_scores_gemma":[0.0047898996,0.00014571118,0.0005418719,0.0019174946,0.00023395885,0.00059879717,0.0004730138,0.000589204,0.00021517847],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000045326353,0.000036828493,0.99818903,0.000017749242,0.00004380467,0.000018893068,0.0000832378,0.000037805472,0.000047523085,0.000007810512,0.00020141847,0.0012704873],"study_design_scores_gemma":[0.000003988353,0.00013566596,0.9993143,0.0000051644147,0.000011368221,0.000060645463,0.00013708646,0.00007210156,0.000015620917,0.000003613425,0.00023811709,0.0000023296118],"about_ca_topic_score_codex":0.0056731002,"about_ca_topic_score_gemma":0.0059226383,"teacher_disagreement_score":0.0056731002,"about_ca_system_score_codex":0.00043392842,"about_ca_system_score_gemma":0.00040205248,"threshold_uncertainty_score":0.0120328665},"labels":[],"label_agreement":null},{"id":"W4400339985","doi":"10.1186/s13023-024-03252-4","title":"Connect-ROD – development and qualitative evaluation of a community-based group intervention to support well-being in patients with a rare or orphan disease","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Université du Québec à Montréal","funders":"Courtois Foundation; Fondation du Grand défi Pierre Lavoie","keywords":"Psychosocial; Coping (psychology); Distress; Social support; Psychology; Qualitative research; Social isolation; Intervention (counseling); Quality of life (healthcare); Expectancy theory; Medicine; Clinical psychology; Nursing; Psychotherapist; Social psychology","score_opus":0.020653622769999373,"score_gpt":0.31381053264521963,"score_spread":0.29315690987522025,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4400339985","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.98118263,0.00015657225,0.0025154073,0.0006084343,0.00006417414,0.011777194,0.0004943372,0.00008401179,0.0031171613],"genre_scores_gemma":[0.94717145,0.00036354936,0.023547994,0.00052412675,0.000042943153,0.025704453,0.0004550886,0.000040645744,0.0021497703],"study_design_codex":"design_other","study_design_gemma":"qualitative","domain_scores_codex":[0.990668,0.0075019463,0.00024247222,0.0003889975,0.00040940783,0.0007891874],"domain_scores_gemma":[0.99361044,0.004143774,0.0003695655,0.00033904004,0.0005754495,0.0009617639],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.011585611,0.00088472315,0.0006263795,0.0009234516,0.002384474,0.0008682834,0.0020542617,0.0009950992,0.0046182442],"category_scores_gemma":[0.00971921,0.00042473213,0.0006975912,0.00079351466,0.0020559642,0.000792396,0.0028044786,0.0010996996,0.00025291272],"study_design_candidate":"qualitative","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.011886282,0.08277976,0.022081526,0.008664766,0.00026326295,0.0032573792,0.3184277,0.004434951,0.021062316,0.0028923335,0.0094147315,0.514835],"study_design_scores_gemma":[0.028518524,0.14116584,0.1512715,0.0035704633,0.0007953131,0.0016223497,0.56134784,0.0065021603,0.022253076,0.0033094073,0.07915537,0.00048815735],"about_ca_topic_score_codex":0.005110671,"about_ca_topic_score_gemma":0.014624663,"teacher_disagreement_score":0.011585611,"about_ca_system_score_codex":0.0042941654,"about_ca_system_score_gemma":0.007827801,"threshold_uncertainty_score":0.06127131},"labels":[],"label_agreement":null},{"id":"W4400508297","doi":"10.1186/s13023-024-03262-2","title":"A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Canadian Institute for International Peace and Security","funders":"Spark Therapeutics; Sanofi Genzyme; Sangamo Therapeutics; Amicus Therapeutics; Idorsia Pharmaceuticals; Chiesi Farmaceutici; Sanofi","keywords":"General partnership; Disease; Disease registry; Rare disease; Medicine; Patient advocacy; Health care; Family medicine; Business; MEDLINE; Political science; Pathology","score_opus":0.05873525344123292,"score_gpt":0.3678375664493303,"score_spread":0.3091023130080974,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4400508297","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.008397326,0.009943566,0.025919128,0.9092035,0.010222419,0.0009988716,0.00043303956,0.00087266415,0.034009445],"genre_scores_gemma":[0.20884025,0.014936517,0.14202116,0.57689875,0.013330643,0.0045363097,0.001721839,0.001692633,0.03602193],"study_design_codex":"not_applicable","study_design_gemma":"qualitative","domain_scores_codex":[0.7162056,0.22745807,0.008306326,0.0114977,0.02384994,0.012682406],"domain_scores_gemma":[0.5544424,0.1793967,0.018745039,0.025470426,0.055590983,0.1663544],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.21998212,0.0014512886,0.0016475046,0.0056578447,0.016073791,0.03386921,0.006193583,0.018933836,0.02740797],"category_scores_gemma":[0.26875702,0.0017029041,0.0026784102,0.0033069379,0.013208687,0.034475368,0.08275144,0.030761743,0.008566673],"study_design_candidate":"qualitative","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0004616246,0.00085188245,0.009799143,0.0018915706,0.00049483706,0.0044195335,0.032893103,0.001092757,0.0016311461,0.08904652,0.56037194,0.297046],"study_design_scores_gemma":[0.00029138342,0.0003577855,0.001528733,0.0027749022,0.00010164642,0.0012373513,0.018824182,0.0007673117,0.00048787863,0.08572488,0.8877072,0.00019683599],"about_ca_topic_score_codex":0.0029946435,"about_ca_topic_score_gemma":0.007540911,"teacher_disagreement_score":0.21998212,"about_ca_system_score_codex":0.008717407,"about_ca_system_score_gemma":0.10310044,"threshold_uncertainty_score":0.96190095},"labels":[],"label_agreement":null},{"id":"W4401758919","doi":"10.1186/s13023-024-03250-6","title":"Navigating global collaboration: challenges faced by the international network on esophageal atresia","year":2024,"lang":"en","type":"letter","venue":"Orphanet Journal of Rare Diseases","topic":"Esophageal and GI Pathology","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Université de Montréal; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Medicine; Atresia; Family medicine; General surgery; Internal medicine","score_opus":0.015888733859679628,"score_gpt":0.2994268056730845,"score_spread":0.28353807181340485,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4401758919","genre_codex":"commentary","genre_gemma":"commentary","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"commentary","genre_consensus":"commentary","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0015359255,0.0005801442,0.00012445293,0.9905964,0.004487477,0.000006394547,0.000009760493,0.000012779297,0.002646724],"genre_scores_gemma":[0.033528745,0.0027823052,0.00093362026,0.9381541,0.018029818,0.000058725753,0.00003552507,0.000041426876,0.006435855],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.99635834,0.0014937157,0.00038053622,0.00030472947,0.0007148987,0.0007476849],"domain_scores_gemma":[0.98861027,0.004842155,0.0007343798,0.00028440668,0.0015442953,0.0039844993],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0040694745,0.0004422996,0.00068931363,0.00055395457,0.006752028,0.0039418126,0.0010842502,0.022161027,0.0055772406],"category_scores_gemma":[0.01729305,0.00044250189,0.0006263434,0.000725108,0.003003275,0.0065726065,0.003369734,0.026310038,0.0021724117],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00004481463,0.00009776185,0.0055482527,0.0001280491,0.000021010324,0.021957548,0.004047808,0.0002398266,0.00035795147,0.009006781,0.92810374,0.030446425],"study_design_scores_gemma":[0.000077150326,0.00017427829,0.0042468654,0.0009206945,0.00002838822,0.03800718,0.017459963,0.0013637975,0.00021233762,0.022994569,0.91439974,0.000115082315],"about_ca_topic_score_codex":0.006813066,"about_ca_topic_score_gemma":0.013830187,"teacher_disagreement_score":0.022161027,"about_ca_system_score_codex":0.0044172895,"about_ca_system_score_gemma":0.006508634,"threshold_uncertainty_score":0.032049775},"labels":[],"label_agreement":null},{"id":"W4402057891","doi":"10.1186/s13023-024-03285-9","title":"Ophthalmological screening guidelines for individuals with Osteogenesis Imperfecta: a scoping review","year":2024,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University; Shriners Hospitals for Children - Canada; McGill University Health Centre","funders":"McGill University","keywords":"Osteogenesis imperfecta; Human genetics; Medicine; Bioinformatics; Genetics; Biology; Pathology","score_opus":0.12227740878766041,"score_gpt":0.4495221915988477,"score_spread":0.3272447828111873,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4402057891","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0006936646,0.9859358,0.0010842537,0.006001973,0.00087064167,0.001596468,0.0010972694,0.000050660798,0.0026693325],"genre_scores_gemma":[0.004523232,0.98556846,0.0044439696,0.0020013987,0.00022184022,0.0018535568,0.0008879467,0.000014340432,0.00048522986],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.98312324,0.0057306434,0.007582821,0.0005895805,0.002638825,0.00033491818],"domain_scores_gemma":[0.93382335,0.041772082,0.01100279,0.00069556787,0.011958951,0.0007473079],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.019435044,0.001548851,0.00418057,0.026020817,0.0014460606,0.0035472447,0.0032654698,0.003681864,0.005563442],"category_scores_gemma":[0.08190838,0.0013157637,0.004244561,0.018028446,0.0011970543,0.0045634815,0.0031404106,0.0019369583,0.0012637194],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00008740611,0.000032897326,0.0010818905,0.72163683,0.00079483096,0.00042988628,0.0011982702,0.00030982215,0.00029681154,0.0017840889,0.03493724,0.23741002],"study_design_scores_gemma":[0.000025187714,0.00002607999,0.0010111113,0.93122035,0.0016521061,0.00025922223,0.0005165452,0.0000641882,0.00007417647,0.00065851404,0.064470425,0.000022115928],"about_ca_topic_score_codex":0.01399257,"about_ca_topic_score_gemma":0.027116643,"teacher_disagreement_score":0.026020817,"about_ca_system_score_codex":0.0051741926,"about_ca_system_score_gemma":0.024045315,"threshold_uncertainty_score":0.10278356},"labels":[],"label_agreement":null},{"id":"W4402582098","doi":"10.1186/s13023-024-03323-6","title":"Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Public Health Ontario","funders":"Amsterdam University Medical Centers; 's Heeren Loo","keywords":"Medical diagnosis; Etiology; Multidisciplinary approach; Medicine; Medical genetics; Genetic testing; MEDLINE; Health care; Family medicine; Genetic diagnosis; Intellectual disability; Medical record; Pediatrics; Psychiatry; Pathology; Genetics; Internal medicine","score_opus":0.012211799944215753,"score_gpt":0.2931048759321304,"score_spread":0.2808930759879147,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4402582098","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":"reporting","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":"reporting","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9889259,0.0036110857,0.000642341,0.00028930744,0.000026294792,0.00037066222,0.0047111614,0.000021091415,0.00140229],"genre_scores_gemma":[0.9956506,0.0015359027,0.0005943489,0.000142962,0.00001686691,0.0001391325,0.0017664995,0.000006119945,0.00014757903],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99568534,0.0012793468,0.0011705613,0.00067920715,0.00085691316,0.00032870602],"domain_scores_gemma":[0.9681218,0.008969087,0.017127333,0.0010652127,0.0035531376,0.0011635255],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.002761961,0.00016070648,0.00036247447,0.0033708983,0.0006349304,0.0008066353,0.0007076697,0.00038979054,0.0010332331],"category_scores_gemma":[0.012502238,0.00024993927,0.00026697913,0.0033912964,0.00054051983,0.0006041359,0.00079784595,0.00041984438,0.00018836824],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000046461668,0.000034636214,0.9909802,0.00022817976,0.000032030362,0.0013701117,0.0012274248,0.000048262944,0.0001571303,0.00007279874,0.00081051036,0.0049921144],"study_design_scores_gemma":[0.000010153461,0.00011821891,0.9877043,0.00038962136,0.00005188109,0.003928542,0.004482471,0.00027765063,0.00034231303,0.000036048434,0.0026368357,0.000021978733],"about_ca_topic_score_codex":0.018575912,"about_ca_topic_score_gemma":0.018029597,"teacher_disagreement_score":0.99723804,"about_ca_system_score_codex":0.0017531877,"about_ca_system_score_gemma":0.002775874,"threshold_uncertainty_score":0.036935568},"labels":[],"label_agreement":null},{"id":"W4402905153","doi":"10.1186/s13023-024-03361-0","title":"Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases","year":2024,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Feilman Foundation; National Human Genome Research Institute; Stan Perron Charitable Foundation; Horizon 2020 Framework Programme; McCusker Charitable Foundation","keywords":"Interoperability; Emerging technologies; Data sharing; Workgroup; Data science; Medicine; Computer science; Knowledge management; Artificial intelligence; World Wide Web; Pathology; Alternative medicine","score_opus":0.04600186282688276,"score_gpt":0.32405074615817203,"score_spread":0.2780488833312893,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4402905153","genre_codex":"commentary","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.00039783103,0.0136081055,0.0044965884,0.9275724,0.03449222,0.0001771648,0.00035953705,0.0005613279,0.018334772],"genre_scores_gemma":[0.0075430684,0.023806138,0.0138025945,0.8955323,0.02922058,0.0003826799,0.0006037718,0.00026229615,0.028846506],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.97759765,0.011580142,0.002406023,0.0018570826,0.005314036,0.0012450503],"domain_scores_gemma":[0.8866655,0.050131105,0.0040930603,0.0038128018,0.043203916,0.012093544],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01764791,0.000844743,0.0012038338,0.0017093241,0.0027334043,0.005464766,0.0042803483,0.020929124,0.046994846],"category_scores_gemma":[0.12310412,0.0005328173,0.0024541202,0.0011268106,0.003632958,0.012014944,0.0051600467,0.021856718,0.03566251],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00002632268,0.000027332417,0.00032691646,0.0005609607,0.000012412497,0.00047986262,0.00031686705,0.00004574761,0.00011256396,0.0013699516,0.95241714,0.044303935],"study_design_scores_gemma":[0.00003166565,0.000020920479,0.00040286974,0.00377438,0.000032346634,0.0011365328,0.0011538214,0.00010441154,0.0001256503,0.006092508,0.98707634,0.000048531845],"about_ca_topic_score_codex":0.0065154545,"about_ca_topic_score_gemma":0.016669275,"teacher_disagreement_score":0.046994846,"about_ca_system_score_codex":0.0029179424,"about_ca_system_score_gemma":0.010657211,"threshold_uncertainty_score":0.15721339},"labels":[],"label_agreement":null},{"id":"W4402926272","doi":"10.1186/s13023-024-03311-w","title":"Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Sphingolipid Metabolism and Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Alberta Children's Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Child Health and Human Development; National Institutes of Health","keywords":"Medicine; Internal medicine; Nephrotic syndrome; Pediatrics; Transplantation","score_opus":0.012559907943610917,"score_gpt":0.25881433819112637,"score_spread":0.24625443024751545,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4402926272","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99955887,0.000114585,0.000038938055,0.000011049918,0.0000018242373,0.0000062833005,0.00012903808,0.000001802974,0.0001376597],"genre_scores_gemma":[0.9995863,0.00007212434,0.000035610796,0.000018088473,0.0000055758546,0.000009336917,0.00021165214,0.0000014197703,0.000059953345],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9995185,0.00010347762,0.00005236,0.00015092621,0.000077104465,0.00009764762],"domain_scores_gemma":[0.9986829,0.0003273274,0.0004484061,0.000097459415,0.00009518017,0.00034887152],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00057887635,0.00036301446,0.00055202254,0.0011026432,0.00076981034,0.00054373674,0.00028651816,0.0005505557,0.0012987086],"category_scores_gemma":[0.0014701777,0.00041349244,0.00037621983,0.0009312534,0.0004913988,0.0006679135,0.00047409174,0.0005160236,0.0002944974],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00004676046,0.000018612285,0.9993229,0.0000021281403,0.000010012996,0.0001885809,0.000049890972,0.000013472496,0.00011007226,0.0000044448298,0.000015949809,0.00021710126],"study_design_scores_gemma":[0.000008212218,0.00030523667,0.99740475,0.0000044445137,0.000022857144,0.0016789641,0.0002452631,0.000108488835,0.00006803304,0.000012214647,0.00013695609,0.0000046253112],"about_ca_topic_score_codex":0.0030116788,"about_ca_topic_score_gemma":0.0021819407,"teacher_disagreement_score":0.0030116788,"about_ca_system_score_codex":0.0003292098,"about_ca_system_score_gemma":0.00030582468,"threshold_uncertainty_score":0.0059883},"labels":[],"label_agreement":null},{"id":"W4402940992","doi":"10.1186/s13023-024-03372-x","title":"Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading","year":2024,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; PTC Therapeutics; Canada Research Chairs; Canada First Research Excellence Fund; European Commission; Government of Canada","keywords":"Medicine; Ejection fraction; Internal medicine; Cardiology; Duchenne muscular dystrophy; Cardiomyopathy; Heart failure","score_opus":0.01572825148654802,"score_gpt":0.29186275411147883,"score_spread":0.27613450262493083,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4402940992","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.002417477,0.9943393,0.00033378956,0.0006275053,0.00015359321,0.0008832827,0.0008570267,0.000017339655,0.00037073478],"genre_scores_gemma":[0.04568634,0.9477913,0.0025852632,0.00078068336,0.0001346284,0.0021267764,0.00071533036,0.000012107187,0.0001675797],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.97608405,0.008638763,0.009821295,0.0012722056,0.0036746743,0.0005089623],"domain_scores_gemma":[0.9184276,0.056666203,0.015990416,0.0009462137,0.007232619,0.0007369957],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.021962887,0.0019646857,0.01257459,0.021399718,0.0007412113,0.003736075,0.0028853966,0.0022507193,0.0036732804],"category_scores_gemma":[0.101806864,0.0016447745,0.010894011,0.016028974,0.0013347402,0.0028123052,0.0021660454,0.0013704078,0.00031060696],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00017633488,0.000011149895,0.002272343,0.9586551,0.017658826,0.00010654673,0.000190961,0.00011286186,0.000098220145,0.00020208395,0.0010231485,0.019492397],"study_design_scores_gemma":[0.00036497656,0.00019847094,0.008435393,0.8402099,0.13955273,0.0004545914,0.00032344952,0.00019400523,0.00015060158,0.00042514244,0.009634987,0.000055667137],"about_ca_topic_score_codex":0.011683391,"about_ca_topic_score_gemma":0.028243603,"teacher_disagreement_score":0.021962887,"about_ca_system_score_codex":0.0059795417,"about_ca_system_score_gemma":0.013960916,"threshold_uncertainty_score":0.11615223},"labels":[],"label_agreement":null},{"id":"W4403326419","doi":"10.1186/s13023-024-03349-w","title":"Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES)","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Hospital for Sick Children; Dystrophic Epidermolysis Bullosa Research Association","keywords":"Medicine; Visual analogue scale; Epidermolysis bullosa; Prospective cohort study; Quality of life (healthcare); Interquartile range; Physical therapy; Pain assessment; Disease; Dermatology; Internal medicine; Pain management","score_opus":0.0163699359131294,"score_gpt":0.3009922408575135,"score_spread":0.2846223049443841,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4403326419","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99634874,0.0018539019,0.0001015041,0.00013212685,0.000007255938,0.000032310167,0.0011630134,0.0000041025382,0.0003570347],"genre_scores_gemma":[0.9977223,0.00057042507,0.00021882889,0.000067118046,0.000012226334,0.00003885006,0.0011717066,0.000002417371,0.0001961502],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99876666,0.00054071157,0.00018365834,0.00018706523,0.00020089756,0.00012100736],"domain_scores_gemma":[0.99476874,0.0009405063,0.0026640561,0.00027129444,0.00084284815,0.0005125454],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0034534202,0.00027205446,0.00036903864,0.0011368932,0.00043621464,0.0007315152,0.0003458315,0.00042868385,0.00084258773],"category_scores_gemma":[0.0070194923,0.0002608959,0.00059823674,0.0012479299,0.00026151576,0.00043072953,0.00092545897,0.0005089253,0.00010693456],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00021709476,0.000026911275,0.99678683,0.0000333379,0.00009331191,0.00027159008,0.00019924282,0.000020643234,0.00019500227,0.000016906428,0.00013393916,0.002005216],"study_design_scores_gemma":[0.00001257967,0.000095595315,0.99896836,0.000022925116,0.0000380459,0.0005431938,0.00011050486,0.000021212985,0.000025799845,0.000009521259,0.00014935502,0.0000028572522],"about_ca_topic_score_codex":0.009079725,"about_ca_topic_score_gemma":0.009555987,"teacher_disagreement_score":0.009079725,"about_ca_system_score_codex":0.00035087354,"about_ca_system_score_gemma":0.00046243911,"threshold_uncertainty_score":0.018263638},"labels":[],"label_agreement":null},{"id":"W4403691862","doi":"10.1186/s13023-024-03364-x","title":"Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement","year":2024,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"BC Children's Hospital; Western University; University of Manitoba; Ottawa Hospital; University of Alberta; Hospital for Sick Children; Université de Montréal; Children's Hospital of Eastern Ontario; University of Ottawa; McGill University Health Centre; Canadian MPS Society for Mucopolysaccharide and Related Diseases; Institute for Clinical Evaluative Sciences; SickKids Foundation","funders":"Canadian Institutes of Health Research; McMaster University","keywords":"Medicine; Clinical trial; Population; MEDLINE; Adverse effect; Intensive care medicine; Disease; Pediatrics; Family medicine; Internal medicine","score_opus":0.3498170679454753,"score_gpt":0.5134765001783239,"score_spread":0.16365943223284862,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4403691862","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":"methods","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0021900507,0.97132796,0.0025815698,0.003645096,0.0013357853,0.013323076,0.0032663913,0.00006504813,0.002264923],"genre_scores_gemma":[0.039306045,0.89172,0.01718787,0.0055740206,0.00078110426,0.041440044,0.003261802,0.00007486338,0.00065423164],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.8185439,0.06634498,0.09342221,0.0043667178,0.0161042,0.0012180795],"domain_scores_gemma":[0.6530191,0.24656703,0.0600098,0.006202313,0.032635245,0.001566476],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.10046724,0.0022028396,0.012147324,0.019726586,0.0014982568,0.0063058403,0.004683774,0.004196358,0.006155313],"category_scores_gemma":[0.4052264,0.0014264577,0.0094070025,0.019592522,0.0021066454,0.006108377,0.0029624274,0.0023909097,0.0009970812],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0004156708,0.000025220643,0.0011650041,0.93467593,0.0068521947,0.00006944317,0.0003293595,0.00012431783,0.0001310036,0.0009613497,0.0049742972,0.050276235],"study_design_scores_gemma":[0.0007415889,0.00017495833,0.0025625182,0.94683534,0.024370374,0.00012264262,0.00027830998,0.00010603706,0.00020742942,0.0010493586,0.023505645,0.000045806482],"about_ca_topic_score_codex":0.0053974898,"about_ca_topic_score_gemma":0.013883155,"teacher_disagreement_score":0.89953274,"about_ca_system_score_codex":0.009837484,"about_ca_system_score_gemma":0.025465498,"threshold_uncertainty_score":0.5313279},"labels":[],"label_agreement":null},{"id":"W4403893657","doi":"10.1186/s13023-024-03370-z","title":"Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hotel Dieu Hospital","funders":"Pfizer France; Pfizer","keywords":"Genetic testing; Medicine; Amyloidosis; Genetic counseling; Disease; Transthyretin; Stakeholder; Standardization; Personalized medicine; Intensive care medicine; Bioinformatics; Genetics; Biology; Pathology; Computer science; Political science; Internal medicine; Public relations","score_opus":0.018356999673503356,"score_gpt":0.25816232342095113,"score_spread":0.23980532374744779,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4403893657","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.050908048,0.041806694,0.0413769,0.8368875,0.0028197928,0.0016742224,0.0008586144,0.0020725026,0.021595716],"genre_scores_gemma":[0.55604064,0.050763104,0.18941188,0.17551899,0.0037701314,0.004486671,0.004330289,0.0005314714,0.015146855],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.951935,0.03186301,0.002740613,0.0027703291,0.0055611404,0.005129831],"domain_scores_gemma":[0.87727135,0.039665576,0.011509984,0.006385736,0.042833358,0.022334082],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.077254035,0.001774556,0.000984746,0.0045038112,0.003490768,0.008965481,0.004636064,0.0063871043,0.008591576],"category_scores_gemma":[0.067730665,0.00048316648,0.0022034214,0.0024162843,0.002427257,0.007290444,0.008569133,0.005552839,0.001902323],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0006114525,0.0017175106,0.083640456,0.005610616,0.0003748229,0.003872272,0.009798162,0.008657739,0.003653841,0.047698773,0.12966019,0.70470417],"study_design_scores_gemma":[0.000604681,0.0026314808,0.105178006,0.022597719,0.0005317814,0.00502214,0.030333053,0.010942359,0.0050158002,0.052577928,0.76401645,0.00054872315],"about_ca_topic_score_codex":0.056712635,"about_ca_topic_score_gemma":0.031548433,"teacher_disagreement_score":0.077254035,"about_ca_system_score_codex":0.017651837,"about_ca_system_score_gemma":0.08484538,"threshold_uncertainty_score":0.40856326},"labels":[],"label_agreement":null},{"id":"W4404182058","doi":"10.1186/s13023-024-03398-1","title":"Expediting treatments in the 21st century: orphan drugs and accelerated approvals","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":2,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Prince Edward Island","funders":"Massachusetts Institute of Technology; EveryLife Foundation for Rare Diseases","keywords":"Expediting; Orphan drug; Drug approval; Medicine; Pharmacology; Bioinformatics; Engineering; Biology; Drug","score_opus":0.17342089198528468,"score_gpt":0.3927809440761226,"score_spread":0.2193600520908379,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4404182058","genre_codex":"commentary","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.03820231,0.26949823,0.02848482,0.41922382,0.009746124,0.0003732419,0.0025331157,0.00063225033,0.2313062],"genre_scores_gemma":[0.45518163,0.3316676,0.05420916,0.107412785,0.017946433,0.00065666804,0.0022185575,0.0004904604,0.030216727],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.9835511,0.009275605,0.001167896,0.0013629374,0.0038077263,0.00083473563],"domain_scores_gemma":[0.95731854,0.021405341,0.01000454,0.0030012217,0.0049531967,0.0033171205],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02065622,0.0004740414,0.00065402064,0.0029303296,0.0012873674,0.0076044155,0.0007017326,0.0022212425,0.01735608],"category_scores_gemma":[0.031536017,0.00030582264,0.00091266155,0.0043359133,0.0044754427,0.007831086,0.0037438818,0.0043411264,0.0028682235],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0005907381,0.00016954768,0.01480774,0.003305772,0.00018733295,0.0009011271,0.0011809181,0.00137444,0.001177361,0.3160378,0.17558809,0.48467904],"study_design_scores_gemma":[0.00007724878,0.00020202741,0.006513212,0.0021498706,0.00007350393,0.0011382803,0.0005207777,0.00061689876,0.0005992295,0.052473515,0.93558085,0.00005469458],"about_ca_topic_score_codex":0.0009873473,"about_ca_topic_score_gemma":0.0021406675,"teacher_disagreement_score":0.02065622,"about_ca_system_score_codex":0.0033079877,"about_ca_system_score_gemma":0.0080967285,"threshold_uncertainty_score":0.10924178},"labels":[],"label_agreement":null},{"id":"W4404199222","doi":"10.1186/s13023-024-03402-8","title":"Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"St. Michael's Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; Rare Diseases Clinical Research Network; National Institutes of Health; Children's Hospital of Philadelphia","keywords":"Telangiectasia; Arteriovenous malformation; Medicine; Lung; Pediatrics; Pathology; Internal medicine; Surgery","score_opus":0.006218356133539017,"score_gpt":0.25232381028967293,"score_spread":0.2461054541561339,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4404199222","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9982729,0.00024705954,0.000036256868,0.00023896853,0.0000037606355,0.000013080435,0.00019348496,0.0000070584515,0.0009873301],"genre_scores_gemma":[0.99908674,0.00031520647,0.00017815059,0.00013310989,0.0000058486685,0.000016887232,0.00013544041,0.000001424911,0.00012722988],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9994617,0.0001280102,0.000098068,0.00007808364,0.00013415662,0.00009993643],"domain_scores_gemma":[0.99585825,0.00091868994,0.002106492,0.00010602188,0.00040355453,0.00060703204],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00070402375,0.000091953196,0.00011353559,0.00077905157,0.0004627423,0.000332886,0.00028884236,0.0003357457,0.001883816],"category_scores_gemma":[0.003612598,0.000106071726,0.0001637452,0.0007740068,0.00033564743,0.00040287504,0.00042612193,0.00037856534,0.00016495657],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0000075665725,0.000018215216,0.99486405,0.0000130387025,0.0000033067638,0.00012644191,0.0009789632,0.000016185197,0.0000707053,0.000013780903,0.00044743667,0.0034401845],"study_design_scores_gemma":[0.0000015657399,0.000046296962,0.9964864,0.000036303118,0.000004856511,0.00063929387,0.0020733874,0.00007349703,0.00006344396,0.000009380403,0.0005629473,0.000002597184],"about_ca_topic_score_codex":0.0323506,"about_ca_topic_score_gemma":0.05158374,"teacher_disagreement_score":0.0323506,"about_ca_system_score_codex":0.00089132076,"about_ca_system_score_gemma":0.0009451097,"threshold_uncertainty_score":0.06432462},"labels":[],"label_agreement":null},{"id":"W4404286315","doi":"10.1186/s13023-024-03437-x","title":"Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Alberta Health Services; Princess Margaret Cancer Centre; University of Toronto; Women and Children’s Health Research Institute; University of Alberta","funders":"Faculty of Medicine and Dentistry, University of Alberta; University of Alberta; Children's Health Research Institute; Women and Children's Health Research Institute; Alberta Medical Association; Alberta Health Services","keywords":"Mitochondrial DNA; Biology; Genetics; Mitochondrial disease; Genome; Exome sequencing; Nuclear gene; Human genetics; Phenotype; Gene","score_opus":0.005694214052296533,"score_gpt":0.2126853841391818,"score_spread":0.20699117008688528,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4404286315","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9988268,0.0004127861,0.00011210452,0.000049965744,0.0000033716667,0.0000061651845,0.00022532036,0.000002582399,0.00036085],"genre_scores_gemma":[0.9994168,0.00015954161,0.00012213258,0.000016703698,0.000009088833,0.0000049170635,0.00022678678,0.0000018044516,0.00004215692],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99935347,0.00013800651,0.00007910504,0.00019170453,0.00013166077,0.00010601903],"domain_scores_gemma":[0.9985569,0.00034150376,0.00063967996,0.00007914632,0.0001706949,0.0002120345],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007267417,0.0002461777,0.00028277692,0.0013745073,0.00036889105,0.00058990053,0.00030406434,0.0004068251,0.0020788626],"category_scores_gemma":[0.0025836062,0.00017201235,0.00033897604,0.0009994864,0.00031814026,0.00050337106,0.0005610789,0.00030507336,0.00022099099],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000030952782,0.0000044775243,0.9988605,0.000004196188,0.000014167661,0.00020427765,0.000037202575,0.000013463771,0.00015771268,0.000015808635,0.000030993426,0.0006264715],"study_design_scores_gemma":[0.0000017843732,0.000043007498,0.9975561,0.000008857705,0.000018498635,0.0018500637,0.00018915666,0.00007740382,0.00007034423,0.000043088865,0.00013925435,0.000002402245],"about_ca_topic_score_codex":0.0016515685,"about_ca_topic_score_gemma":0.0015358529,"teacher_disagreement_score":0.0020788626,"about_ca_system_score_codex":0.00022235679,"about_ca_system_score_gemma":0.00018773315,"threshold_uncertainty_score":0.006954491},"labels":[],"label_agreement":null},{"id":"W4404584233","doi":"10.1186/s13023-024-03421-5","title":"Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McMaster University; McMaster Children's Hospital; Vancouver General Hospital","funders":"National Center for Advancing Translational Sciences","keywords":"Mitochondrial DNA; Post-hoc analysis; Cohort; Mitochondrial myopathy; Population; Biology; Genetics; Chronic progressive external ophthalmoplegia; Mitochondrial disease; Internal medicine; Genotype; Placebo; Medicine; Pathology; Gene","score_opus":0.00344311847009756,"score_gpt":0.2063202761584206,"score_spread":0.20287715768832304,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4404584233","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9961325,0.0016510997,0.00032679897,0.00015436271,0.00010096281,0.00038481914,0.00047380762,0.000025784917,0.0007498699],"genre_scores_gemma":[0.9973781,0.00029852262,0.00039860036,0.00020498736,0.00009773223,0.00048588644,0.00044139658,0.00001531493,0.0006795371],"study_design_codex":"randomized_trial","study_design_gemma":"observational","domain_scores_codex":[0.9977247,0.0014744295,0.00016033341,0.00026066805,0.0001107889,0.00026913348],"domain_scores_gemma":[0.9959708,0.0022206106,0.00072580297,0.0004896573,0.00021267075,0.00038048383],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0040577915,0.0009839756,0.0026646596,0.00020743364,0.00025444393,0.0009488567,0.0004933477,0.0008821646,0.003144121],"category_scores_gemma":[0.0046094237,0.00022069116,0.0033265168,0.0002669333,0.00047733987,0.00079806685,0.00046014774,0.0016915881,0.00036415708],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.97824186,0.00086851505,0.005447524,0.0002473355,0.004169375,0.000080490834,0.000058005626,0.00044064622,0.0029854327,0.000073826835,0.00039376924,0.0069931583],"study_design_scores_gemma":[0.45653075,0.37270477,0.14297633,0.0001315342,0.015723208,0.00026815833,0.00022203775,0.0035738682,0.0041060364,0.00090069824,0.0027402462,0.0001223969],"about_ca_topic_score_codex":0.0003128275,"about_ca_topic_score_gemma":0.00070385,"teacher_disagreement_score":0.0040577915,"about_ca_system_score_codex":0.0003722943,"about_ca_system_score_gemma":0.00054741383,"threshold_uncertainty_score":0.021459937},"labels":[],"label_agreement":null},{"id":"W4404643996","doi":"10.1186/s13023-024-03445-x","title":"A Natural History Study of Timothy Syndrome","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Long QT syndrome; Medicine; Disease; Syndactyly; Natural history; Pediatrics; Hypoglycemia; Internal medicine; Bioinformatics; Biology; Surgery; QT interval","score_opus":0.007288262662176276,"score_gpt":0.2328315276835399,"score_spread":0.22554326502136363,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4404643996","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.995899,0.00032101592,0.00010694915,0.00012338025,0.000012808861,0.000032105527,0.00018097056,0.0000058521505,0.0033178872],"genre_scores_gemma":[0.9990676,0.0001992471,0.00011002567,0.0000990598,0.000028967934,0.00001298095,0.00015272012,0.0000034100697,0.00032603164],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99971205,0.0000569232,0.000022464674,0.000074024945,0.00007395155,0.00006045417],"domain_scores_gemma":[0.9990388,0.00018714333,0.00023563286,0.000053783082,0.00013694768,0.00034763687],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00024929835,0.00026158782,0.00023042828,0.0013976402,0.0009577227,0.00042121977,0.00027726966,0.00043474385,0.0028785535],"category_scores_gemma":[0.002057813,0.00015509146,0.00018964254,0.00089681457,0.00036568605,0.0005133606,0.0004914362,0.00040722222,0.00038786064],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00017204978,0.00015911806,0.94625914,0.000027000158,0.00001250532,0.044438634,0.001597851,0.00004336245,0.002044786,0.00031768196,0.0005837223,0.004344188],"study_design_scores_gemma":[0.000012923418,0.00041724605,0.8572826,0.0000289437,0.00002348228,0.13727908,0.001824822,0.00025030356,0.00024984044,0.00025163742,0.002363053,0.00001603261],"about_ca_topic_score_codex":0.0029238656,"about_ca_topic_score_gemma":0.0021353145,"teacher_disagreement_score":0.0029238656,"about_ca_system_score_codex":0.00041628632,"about_ca_system_score_gemma":0.0004144054,"threshold_uncertainty_score":0.009629726},"labels":[],"label_agreement":null},{"id":"W4404719610","doi":"10.1186/s13023-024-03429-x","title":"Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Center for Advancing Translational Sciences; National Institutes of Health","keywords":"Myopathy; Translational science; Translational research; Medicine; Family medicine; Gerontology; Political science; Pathology","score_opus":0.017700609675595436,"score_gpt":0.3100408865107683,"score_spread":0.29234027683517283,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4404719610","genre_codex":"review","genre_gemma":"editorial","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"editorial","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.006753885,0.90658057,0.0020356947,0.0523256,0.011294262,0.000058542497,0.00047225834,0.00012079365,0.02035836],"genre_scores_gemma":[0.04731842,0.8783934,0.0050256825,0.013666336,0.014050856,0.00009465207,0.0020259595,0.0000434983,0.039381236],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.99967146,0.0000609148,0.00003871722,0.000045771078,0.00009370091,0.000089472815],"domain_scores_gemma":[0.9994856,0.000093959876,0.0000549679,0.000010594819,0.0001616427,0.0001931603],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001672919,0.00052375544,0.00036262482,0.0007706922,0.00034383126,0.0016956741,0.000544814,0.0017389827,0.009210284],"category_scores_gemma":[0.00063613604,0.00020270942,0.00038614715,0.0004717957,0.00046375152,0.0012986677,0.00066238205,0.001672235,0.0026121084],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0011282818,0.00024140254,0.0019246473,0.0042061117,0.00009422873,0.0015653563,0.0002570935,0.0005095493,0.03896231,0.009745483,0.25919667,0.68216884],"study_design_scores_gemma":[0.00004543529,0.0004573558,0.0026413542,0.000853602,0.00006835857,0.0016647949,0.00038850357,0.00018993924,0.006896531,0.0042040073,0.9825665,0.000023786293],"about_ca_topic_score_codex":0.00078359817,"about_ca_topic_score_gemma":0.0017965108,"teacher_disagreement_score":0.009210284,"about_ca_system_score_codex":0.0009648077,"about_ca_system_score_gemma":0.0012880709,"threshold_uncertainty_score":0.030811489},"labels":[],"label_agreement":null},{"id":"W4407573458","doi":"10.1186/s13023-025-03550-5","title":"Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"St. Joseph’s Healthcare Hamilton; Toronto General Hospital; York University; University of Toronto; University Health Network","funders":"","keywords":"Anxiety; Psychiatry; Mental health; Depression (economics); Dysphoria; Medicine; Clinical psychology; Population; Generalized anxiety disorder; Psychology","score_opus":0.025684343327738352,"score_gpt":0.3658500189564868,"score_spread":0.34016567562874844,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4407573458","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99908376,0.000112898,0.000016780583,0.000050948693,0.0000046232453,0.000009713357,0.00029845166,0.0000032418407,0.0004195454],"genre_scores_gemma":[0.999406,0.00008021037,0.000026371508,0.000035211153,0.000005882657,0.000007916313,0.0002662369,0.0000011677964,0.00017113257],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9993236,0.00012663969,0.00008547079,0.00010882887,0.00021938127,0.00013604373],"domain_scores_gemma":[0.99772614,0.000303123,0.0010959218,0.00007450833,0.000301736,0.0004986132],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00038901894,0.00014929559,0.00024691698,0.0012771003,0.00071894896,0.00071872707,0.00031550127,0.0003419368,0.0015805666],"category_scores_gemma":[0.0021853799,0.00022677769,0.0002240762,0.00099206,0.0004186446,0.0003625028,0.000522478,0.0005125407,0.0001790925],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000018584109,0.000010419352,0.99872106,0.0000050930994,0.000008369024,0.00020393441,0.00025421398,0.0000065850045,0.00008709445,0.000004487192,0.000107689746,0.000572441],"study_design_scores_gemma":[0.000002138137,0.000026320751,0.99903417,0.0000046625287,0.0000037112452,0.0003941362,0.00039793304,0.00001880702,0.000026298569,0.0000022748197,0.00008716979,0.0000024632113],"about_ca_topic_score_codex":0.030208714,"about_ca_topic_score_gemma":0.04685059,"teacher_disagreement_score":0.030208714,"about_ca_system_score_codex":0.0008377883,"about_ca_system_score_gemma":0.00042545306,"threshold_uncertainty_score":0.060065746},"labels":[],"label_agreement":null},{"id":"W4408078037","doi":"10.1186/s13023-025-03561-2","title":"Health outcomes following COVID-19 infection and vaccination in hereditary hemorrhagic telangiectasia","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of Toronto; St. Michael's Hospital","funders":"","keywords":"Medicine; Vaccination; Cohort; Coronavirus disease 2019 (COVID-19); Telangiectasia; Population; Cohort study; Pediatrics; Disease; Internal medicine; Immunology; Surgery; Infectious disease (medical specialty); Environmental health","score_opus":0.011856322673073906,"score_gpt":0.3189482747400857,"score_spread":0.3070919520670118,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4408078037","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9993043,0.000091869006,0.0000127562025,0.000043946427,0.0000031620702,0.000006339064,0.0002657137,0.0000010326037,0.0002707901],"genre_scores_gemma":[0.9995388,0.000049612958,0.000017560751,0.0000155505,0.0000058726087,0.0000062532076,0.00028977715,3.3220593e-7,0.00007638468],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9996252,0.000103575454,0.00003453686,0.000054875112,0.000058436257,0.00012334531],"domain_scores_gemma":[0.99791807,0.00023071066,0.0010452869,0.000050379225,0.00020187737,0.0005537106],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00074051233,0.00015711937,0.00023537762,0.0006090791,0.00049958815,0.00048697137,0.00019885294,0.0003526574,0.0010203093],"category_scores_gemma":[0.002580288,0.0001085142,0.00025934214,0.0006167017,0.00033012312,0.0003552272,0.00052001345,0.00046023965,0.000108463515],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00007191377,0.000020240792,0.9991109,0.0000057223797,0.000009824073,0.000093973205,0.000082989216,0.00001845337,0.000027382786,0.000003923587,0.000051101946,0.0005035658],"study_design_scores_gemma":[0.0000029474709,0.00010888507,0.9994746,0.0000046487653,0.000007534243,0.00015865335,0.00013077504,0.000042904005,0.000018157223,0.000008251791,0.000041112256,0.0000015313518],"about_ca_topic_score_codex":0.017021893,"about_ca_topic_score_gemma":0.020068051,"teacher_disagreement_score":0.017021893,"about_ca_system_score_codex":0.00091835146,"about_ca_system_score_gemma":0.00052506285,"threshold_uncertainty_score":0.033845603},"labels":[],"label_agreement":null},{"id":"W4408782897","doi":"10.1186/s13023-025-03661-z","title":"Whole exome sequencing enhances diagnosis of hereditary bronchiectasis","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Toronto","funders":"National Key Research and Development Program of China; National Natural Science Foundation of China; Institute for Health Care Improvement","keywords":"Bronchiectasis; Medicine; Primary ciliary dyskinesia; Genetic counseling; Genetic testing; Exome sequencing; Human genetics; Pediatrics; Cystic fibrosis; Internal medicine; Mutation; Genetics; Lung; Gene; Biology","score_opus":0.014094251846216994,"score_gpt":0.30461185165932597,"score_spread":0.290517599813109,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4408782897","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.98905945,0.0029466853,0.004188184,0.00033834358,0.000058095015,0.00005131999,0.00076280534,0.00009917994,0.002495947],"genre_scores_gemma":[0.9937575,0.0007415426,0.0042387107,0.00014892335,0.000057863665,0.000018583678,0.00072444085,0.000014263473,0.00029828065],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99900204,0.00039450143,0.000106286614,0.00023983694,0.00017603664,0.000081423634],"domain_scores_gemma":[0.9973375,0.0015867173,0.00033217575,0.00015589282,0.00041336985,0.0001742457],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0021225489,0.000488841,0.00039172554,0.0012047734,0.00018193258,0.0004164012,0.00021985044,0.00053234474,0.0018894146],"category_scores_gemma":[0.0037711617,0.00014190885,0.00030268065,0.00033693403,0.00020186364,0.00037964596,0.0005047464,0.00034070062,0.0003602655],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0009954501,0.00013616943,0.8768257,0.00030563324,0.00029368786,0.0023086905,0.00014584138,0.00095347076,0.053049814,0.00014222188,0.0016449913,0.06319832],"study_design_scores_gemma":[0.000040482606,0.00031638803,0.9576885,0.00016071057,0.00035149616,0.011780291,0.00014440472,0.0054617967,0.020521736,0.0004260037,0.0030864906,0.000021740478],"about_ca_topic_score_codex":0.00035098256,"about_ca_topic_score_gemma":0.0007477604,"teacher_disagreement_score":0.0021225489,"about_ca_system_score_codex":0.00015043466,"about_ca_system_score_gemma":0.00017086888,"threshold_uncertainty_score":0.011225283},"labels":[],"label_agreement":null},{"id":"W4408994885","doi":"10.1186/s13023-025-03660-0","title":"Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Phenomenome Discoveries (Canada)","funders":"","keywords":"Cognitive interview; Medicine; Quality of life (healthcare); Cronbach's alpha; Psychosocial; Physical therapy; Clinical psychology; Psychology; Cognition; Psychiatry; Psychometrics","score_opus":0.03468610044266709,"score_gpt":0.32436469452377814,"score_spread":0.2896785940811111,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4408994885","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.97948897,0.00035503146,0.008590239,0.00051414204,0.000044723907,0.006079903,0.0025628747,0.00006907606,0.002295133],"genre_scores_gemma":[0.9349892,0.00061186356,0.04199652,0.00032134674,0.000028857328,0.015057852,0.006105951,0.000040956762,0.00084749336],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99246806,0.0045924284,0.0010154103,0.00027076225,0.0013577406,0.00029552574],"domain_scores_gemma":[0.9845014,0.004622871,0.0034913556,0.00078174385,0.0054193786,0.0011831847],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.021692334,0.0004622298,0.00041273693,0.0012647761,0.00040181814,0.0007298681,0.0006444578,0.0003765869,0.000907232],"category_scores_gemma":[0.024778195,0.00025836728,0.0008238484,0.0007720528,0.00041267322,0.0006829883,0.0011061376,0.0007929799,0.00032917497],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0011263698,0.002435689,0.78586483,0.0006257425,0.00022244865,0.00034540868,0.006552377,0.0016254055,0.0037900773,0.0006928059,0.0052999957,0.19141893],"study_design_scores_gemma":[0.00054743147,0.0075821695,0.95105356,0.00045835003,0.00017838374,0.00082236785,0.0061251945,0.005724476,0.0039305296,0.00042482902,0.023030028,0.00012267912],"about_ca_topic_score_codex":0.0016788673,"about_ca_topic_score_gemma":0.003247147,"teacher_disagreement_score":0.021692334,"about_ca_system_score_codex":0.0009937566,"about_ca_system_score_gemma":0.002882195,"threshold_uncertainty_score":0.11472142},"labels":[],"label_agreement":null},{"id":"W4409286071","doi":"10.1186/s13023-025-03671-x","title":"Consensus-based recommendations for the rehabilitation of children with arthrogryposis multiplex congenita: an integrated knowledge translation approach","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Université du Québec à Trois-Rivières; Université de Montréal; Centre de réadaptation Lethbridge-Layton-Mackay; McGill University; Shriners Hospitals for Children - Canada","funders":"Fonds de Recherche du Québec - Santé; Natera","keywords":"Rehabilitation; Arthrogryposis multiplex congenita; Medicine; Knowledge translation; Physical therapy; Occupational therapy; Delphi method; International Classification of Functioning, Disability and Health; Orthotics; Arthrogryposis; Physical medicine and rehabilitation; Psychology; Knowledge management","score_opus":0.03904417585063042,"score_gpt":0.3353609050328128,"score_spread":0.2963167291821824,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4409286071","genre_codex":"commentary","genre_gemma":"methods","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"methods","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.01984151,0.1228265,0.23416772,0.4094805,0.016113283,0.14636093,0.0046806145,0.0016396878,0.044889223],"genre_scores_gemma":[0.08087912,0.06320354,0.7451791,0.019746719,0.001077482,0.08363969,0.0031948797,0.0002582844,0.0028211852],"study_design_codex":"design_other","study_design_gemma":"not_applicable","domain_scores_codex":[0.44208646,0.39564326,0.1061323,0.008979299,0.041502267,0.0056564608],"domain_scores_gemma":[0.31129938,0.46401635,0.039171636,0.02117936,0.15342002,0.010913273],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.4427665,0.0041266447,0.007007411,0.031951003,0.005454531,0.016743353,0.015523259,0.015151427,0.007779329],"category_scores_gemma":[0.6110252,0.0038387072,0.013419464,0.018909017,0.005754673,0.018230416,0.023183607,0.015793499,0.0034651207],"study_design_candidate":"not_applicable","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00040132453,0.0008228388,0.002691565,0.18208809,0.0017902862,0.0014838073,0.07206237,0.00422377,0.001317224,0.024049224,0.07643367,0.63263583],"study_design_scores_gemma":[0.0010390482,0.0007101687,0.0034392888,0.6737932,0.0032910754,0.00074223237,0.041586567,0.005383784,0.0012115206,0.043752544,0.22453737,0.00051318196],"about_ca_topic_score_codex":0.013619849,"about_ca_topic_score_gemma":0.015461643,"teacher_disagreement_score":0.4427665,"about_ca_system_score_codex":0.031512562,"about_ca_system_score_gemma":0.13812679,"threshold_uncertainty_score":0.6871681},"labels":[],"label_agreement":null},{"id":"W4409435668","doi":"10.1186/s13023-025-03688-2","title":"A population-based cohort study of mitochondrial disease and mental health conditions in Ontario, Canada","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Centre for Addiction and Mental Health; McGill University; Public Health Ontario; Trillium Health Centre; University of Toronto","funders":"University of Toronto; Canada Research Chairs","keywords":"Medicine; Mental health; Population; Cohort; Disease; Mitochondrial disease; Cohort study; Psychiatry; Mood disorders; Bipolar disorder; Mood; Mental illness; Environmental health; Internal medicine; Biology; Mitochondrial DNA; Anxiety; Genetics","score_opus":0.006162853425771461,"score_gpt":0.25162638420014877,"score_spread":0.2454635307743773,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4409435668","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9715146,0.0014208163,0.00038713022,0.0008806607,0.000044554057,0.00038486373,0.020998295,0.000022437613,0.0043465514],"genre_scores_gemma":[0.99262834,0.00082134607,0.00041392355,0.0002674841,0.000013397644,0.00011650497,0.003911087,0.000007820143,0.0018201204],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9987208,0.00009264781,0.00009014002,0.00024726163,0.00044568002,0.00040349519],"domain_scores_gemma":[0.9978358,0.000071047085,0.0003287337,0.00009397608,0.0011100012,0.00056037575],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00081762264,0.00040612838,0.00065631873,0.0014790496,0.005842206,0.0015180302,0.0013346964,0.0005842371,0.0025290607],"category_scores_gemma":[0.0021572185,0.0004807321,0.00065789436,0.0051618265,0.00071039004,0.0005848728,0.0013118134,0.0007371409,0.00031033935],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0000733325,0.000050613828,0.99238855,0.00006179357,0.00008228123,0.00022211141,0.0015842357,0.00006861367,0.00023519431,0.00012747683,0.0026438213,0.0024620772],"study_design_scores_gemma":[0.000013773954,0.000025433432,0.9971154,0.000040554078,0.000033243054,0.00007607357,0.0013866981,0.00014579203,0.000018132632,0.000030254896,0.00110453,0.0000102268],"about_ca_topic_score_codex":0.9958813,"about_ca_topic_score_gemma":0.9977767,"teacher_disagreement_score":0.032531876,"about_ca_system_score_codex":0.032531876,"about_ca_system_score_gemma":0.049909346,"threshold_uncertainty_score":0.23603636},"labels":[],"label_agreement":null},{"id":"W4409733039","doi":"10.1186/s13023-025-03711-6","title":"Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lipid metabolism and biosynthesis","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Calgary","funders":"Natural Sciences and Engineering Research Council of Canada","keywords":"Disease; Nonsense mutation; Organelle; Lipid droplet; Peroxisome; Medicine; Mutation; Biology; Gene; Internal medicine; Genetics; Missense mutation","score_opus":0.024625601439259244,"score_gpt":0.26534268939271616,"score_spread":0.24071708795345692,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4409733039","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.98479444,0.0037602573,0.005916121,0.0003604537,0.00009469273,0.00023966026,0.0016635148,0.00009014368,0.00308074],"genre_scores_gemma":[0.98271966,0.0027360145,0.010830693,0.00022770361,0.000018775,0.00015564718,0.001497744,0.000019330826,0.0017944709],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.99979526,0.000035706427,0.0000314736,0.000050432376,0.000062982355,0.00002426612],"domain_scores_gemma":[0.9998728,0.000058575282,0.000014775291,0.000016944545,0.000018450894,0.00001840713],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003627818,0.00051627523,0.00030780354,0.00032680633,0.00027406507,0.0002919732,0.00023237,0.0005275219,0.0018769831],"category_scores_gemma":[0.00018557877,0.00010236543,0.000422182,0.00028541507,0.00019084282,0.00016139107,0.000174376,0.00048366396,0.00034363777],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00018699223,0.00017326954,0.0015453659,0.0000878615,0.000030982228,0.0010453344,0.000050040875,0.00021433181,0.99044776,0.000120314246,0.00013181451,0.0059659756],"study_design_scores_gemma":[0.00009961139,0.0016274471,0.0070072906,0.000018189208,0.00009333889,0.0036669855,0.000115442956,0.0012251937,0.98047906,0.00012348306,0.0055266456,0.000017325932],"about_ca_topic_score_codex":0.0011990531,"about_ca_topic_score_gemma":0.0023458917,"teacher_disagreement_score":0.0018769831,"about_ca_system_score_codex":0.00031825918,"about_ca_system_score_gemma":0.00022120032,"threshold_uncertainty_score":0.006279111},"labels":[],"label_agreement":null},{"id":"W4409951238","doi":"10.1186/s13023-025-03725-0","title":"European experience of steroid therapy in children with developmental and epileptic encephalopathy with spike wave activation in sleep ((D)EE-SWAS)","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Alberta Children's Hospital","funders":"","keywords":"Clobazam; Epilepsy; Medicine; Psychiatry; Pediatrics; Psychology","score_opus":0.011108280502584944,"score_gpt":0.2542902146755032,"score_spread":0.24318193417291828,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4409951238","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9880553,0.006388892,0.00018561579,0.0013862046,0.000041460193,0.000011990846,0.00014924225,0.000009466716,0.0037718948],"genre_scores_gemma":[0.99386686,0.004529271,0.00028239764,0.0008072184,0.000030847747,0.000009750149,0.00012549832,0.000008120042,0.00034003658],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9982035,0.0007985516,0.00033353124,0.00015068812,0.00026446438,0.00024933805],"domain_scores_gemma":[0.99454653,0.0013979583,0.0026221343,0.00015047596,0.0004515822,0.0008313095],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0016665055,0.000133383,0.0002527324,0.00035457814,0.00040359673,0.0007377301,0.00026744252,0.0004256788,0.0013386429],"category_scores_gemma":[0.0065652817,0.00009588363,0.0002540762,0.0011049254,0.00052536244,0.00051258126,0.0006569167,0.0004858456,0.00018247253],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0003245966,0.00019489441,0.8935402,0.00039679214,0.00008377094,0.0064968,0.009352912,0.00017885558,0.0012052327,0.0006925136,0.0030216381,0.08451173],"study_design_scores_gemma":[0.00004915176,0.0006930178,0.8753172,0.0008167673,0.00010372248,0.04686464,0.024917213,0.00027475454,0.0013394663,0.00019393291,0.049383506,0.0000466284],"about_ca_topic_score_codex":0.004518497,"about_ca_topic_score_gemma":0.0045767026,"teacher_disagreement_score":0.004518497,"about_ca_system_score_codex":0.00075940025,"about_ca_system_score_gemma":0.0011622986,"threshold_uncertainty_score":0.008984387},"labels":[],"label_agreement":null},{"id":"W4410055005","doi":"10.1186/s13023-025-03734-z","title":"Overall survival among patients with activated phosphoinositide 3-kinase delta syndrome (APDS)","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":8,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"","keywords":"APDS; Medicine; Population; Internal medicine; Lymphoma; Mortality rate; Surgery","score_opus":0.0038095796794089423,"score_gpt":0.20226069415388853,"score_spread":0.19845111447447958,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4410055005","genre_codex":"review","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.47302663,0.51810914,0.00049779395,0.0004984505,0.00007498053,0.00006441555,0.006394578,0.000010478108,0.0013234928],"genre_scores_gemma":[0.8972557,0.09822529,0.0004684368,0.00040296622,0.00015026146,0.00007619166,0.0033089758,0.0000027902272,0.00010927969],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99936634,0.00017202082,0.00020345871,0.000118365475,0.00010377562,0.000035982568],"domain_scores_gemma":[0.9979087,0.00094711705,0.0009183885,0.000039290953,0.00013538216,0.000051170347],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0012493173,0.0002425883,0.0005973376,0.0024994202,0.00010727108,0.0004420326,0.00018688694,0.00022290381,0.0006727467],"category_scores_gemma":[0.0028564036,0.00008945258,0.0012120722,0.0025897226,0.00023359577,0.0004946813,0.00032892995,0.00024163863,0.00007645373],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.001038114,0.000031716576,0.8642651,0.02290233,0.00736601,0.00041047882,0.00019743791,0.0005076007,0.00063002756,0.00027325927,0.0012205193,0.10115748],"study_design_scores_gemma":[0.00026510976,0.001079281,0.9498055,0.013055603,0.015954398,0.0034914257,0.0008147944,0.00043765272,0.0006401994,0.00089605467,0.0135164345,0.000043539283],"about_ca_topic_score_codex":0.0013003504,"about_ca_topic_score_gemma":0.003408095,"teacher_disagreement_score":0.0024994202,"about_ca_system_score_codex":0.00030105832,"about_ca_system_score_gemma":0.00067844323,"threshold_uncertainty_score":0.0066070557},"labels":[],"label_agreement":null},{"id":"W4410207871","doi":"10.1186/s13023-025-03742-z","title":"The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; Ministero della Salute; Canada First Research Excellence Fund; Fondazione Telethon; E-Rare; Canada Research Chairs; National Institutes of Health; Government of Canada; European Commission; Charcot-Marie-Tooth Association","keywords":"Medicine; Weakness; Disease; Muscle weakness; Physical medicine and rehabilitation; Affect (linguistics); Physical therapy; Neuromuscular disease; Psychology; Internal medicine","score_opus":0.01539912352898948,"score_gpt":0.2896878641427696,"score_spread":0.2742887406137801,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4410207871","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9841098,0.0010377823,0.00025178696,0.00028265658,0.000017265,0.000069342525,0.01249376,0.000012811502,0.0017247194],"genre_scores_gemma":[0.9863129,0.0005201606,0.00036803185,0.00018066552,0.000017387154,0.00008939498,0.012084872,0.000005198893,0.00042139622],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99883527,0.000378956,0.00030593982,0.00017507546,0.00019678971,0.00010795667],"domain_scores_gemma":[0.9984767,0.00028200264,0.000774453,0.00006628181,0.00023421308,0.00016639617],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0022083826,0.00018112116,0.00033289453,0.00083752203,0.00010559166,0.00031284333,0.0003439111,0.00033494466,0.00078276935],"category_scores_gemma":[0.0026264002,0.00008638762,0.00042762674,0.00081144244,0.00014993288,0.0004487072,0.00073598826,0.00028725446,0.00022619376],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00010608729,0.000030409046,0.99487644,0.000077943056,0.00005799421,0.0000597299,0.00013533284,0.000113146336,0.00010533362,0.00004309723,0.0011703032,0.0032240832],"study_design_scores_gemma":[0.0000070034107,0.000044792105,0.99893695,0.000029477642,0.000012778381,0.000112654496,0.000121121404,0.00005545363,0.000024222618,0.000013602761,0.00063959643,0.0000023467617],"about_ca_topic_score_codex":0.005166829,"about_ca_topic_score_gemma":0.00561283,"teacher_disagreement_score":0.005166829,"about_ca_system_score_codex":0.00036569178,"about_ca_system_score_gemma":0.000286522,"threshold_uncertainty_score":0.0116791725},"labels":[],"label_agreement":null},{"id":"W4411258596","doi":"10.1186/s13023-025-03837-7","title":"Investigating health related quality of life and clinical measures in autoimmune encephalitis: a systematic review","year":2025,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Autoimmune Neurological Disorders and Treatments","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"","keywords":"Human genetics; Medicine; Autoimmune encephalitis; Quality of life (healthcare); Quality (philosophy); Intensive care medicine; Encephalitis; Immunology; Computational biology; Biology; Virus; Genetics","score_opus":0.09729263384096042,"score_gpt":0.4086176153383639,"score_spread":0.31132498149740345,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4411258596","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.000923638,0.99788266,0.0001230277,0.00020085358,0.00007529934,0.00022704671,0.0003899938,0.0000057336556,0.00017169467],"genre_scores_gemma":[0.015237045,0.9825531,0.0005782886,0.000513556,0.00008357711,0.0006430032,0.00030058407,0.0000055876935,0.00008529431],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.9901418,0.0032141774,0.0038860722,0.0007613419,0.0016814101,0.00031523162],"domain_scores_gemma":[0.9524461,0.037553232,0.006351808,0.0005237614,0.0028025918,0.00032244035],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.010821174,0.0017573987,0.009996902,0.012062533,0.000687746,0.0034215753,0.0018973282,0.0021182417,0.004480364],"category_scores_gemma":[0.055389,0.0010645372,0.010253982,0.013556722,0.0010210706,0.0028835176,0.0019332065,0.0015405919,0.000312485],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00011799036,0.000013240752,0.0007534597,0.9701627,0.0075204293,0.000059069916,0.0001556561,0.00007692944,0.00006949923,0.00017835121,0.0007481326,0.020144604],"study_design_scores_gemma":[0.00015908109,0.00017498188,0.00427185,0.92905605,0.05553069,0.00024029304,0.00030313985,0.00006818848,0.000092371265,0.00028476486,0.009783203,0.00003532687],"about_ca_topic_score_codex":0.010466349,"about_ca_topic_score_gemma":0.028598571,"teacher_disagreement_score":0.012062533,"about_ca_system_score_codex":0.004677913,"about_ca_system_score_gemma":0.012367274,"threshold_uncertainty_score":0.057228565},"labels":[],"label_agreement":null},{"id":"W4411465070","doi":"10.1186/s13023-025-03854-6","title":"Prevalence of vascular complications in Ehlers-Danlos syndrome: a systematic review and meta-analysis","year":2025,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Al-Azhar University","keywords":"Ehlers–Danlos syndrome; Medicine; Meta-analysis; Observational study; Study heterogeneity; Complication; Publication bias; Systematic review; Internal medicine; Data extraction; MEDLINE; Surgery; Biology","score_opus":0.04628743075560369,"score_gpt":0.36388294600165455,"score_spread":0.31759551524605084,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4411465070","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0031693233,0.9952506,0.00041411564,0.0001680755,0.000107165295,0.0002332576,0.00045784833,0.000020397805,0.00017917874],"genre_scores_gemma":[0.09778045,0.896776,0.0021773884,0.0006412817,0.00023923784,0.0012288196,0.0008610132,0.0000259216,0.0002698235],"study_design_codex":"systematic_review","study_design_gemma":"meta_analysis","domain_scores_codex":[0.98959774,0.0042916383,0.0032617068,0.0010904192,0.0013982758,0.00036015696],"domain_scores_gemma":[0.97698534,0.017030207,0.0030624745,0.0007011943,0.0019786856,0.00024217746],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.014732329,0.0029198355,0.016358064,0.00873409,0.0008101318,0.003879865,0.002190953,0.0022953385,0.0033334326],"category_scores_gemma":[0.038963392,0.0015765302,0.037139885,0.00860165,0.00063493825,0.0018300714,0.0017531359,0.0016814019,0.00029929116],"study_design_candidate":"meta_analysis","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0008893266,0.000025364076,0.005099965,0.5466731,0.4333662,0.00017878963,0.00012126666,0.0004666093,0.00018618505,0.00013967813,0.000735717,0.01211773],"study_design_scores_gemma":[0.00021144118,0.00015447682,0.004866402,0.05202281,0.9399718,0.00017248458,0.00006382466,0.00017248969,0.00010384691,0.00018861055,0.0020419848,0.000029805944],"about_ca_topic_score_codex":0.0062803244,"about_ca_topic_score_gemma":0.013917776,"teacher_disagreement_score":0.016358064,"about_ca_system_score_codex":0.002679641,"about_ca_system_score_gemma":0.0049340087,"threshold_uncertainty_score":0.07791293},"labels":[],"label_agreement":null},{"id":"W4411900567","doi":"10.1186/s13023-025-03846-6","title":"Respiratory oscillometry in individuals with fibrodysplasia ossificans progressiva","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Heterotopic Ossification and Related Conditions","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Sinai Health System; University of Toronto; University Health Network","funders":"University of Toronto; Hungarian Scientific Research Fund","keywords":"Spirometry; Medicine; Fibrodysplasia ossificans progressiva; Cardiology; Airway obstruction; Internal medicine; Pulmonary function testing; Respiratory physiology; Restrictive lung disease; Population; Physical therapy; Respiratory system; Airway; Anesthesia; Surgery; Heterotopic ossification; Asthma","score_opus":0.01389309237663683,"score_gpt":0.2970090547043228,"score_spread":0.283115962327686,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4411900567","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9993079,0.00025620143,0.000060451806,0.000030307749,0.000004389031,0.000012424699,0.000036513695,0.0000030358876,0.00028873628],"genre_scores_gemma":[0.99966335,0.00007476607,0.00009955265,0.000021020787,0.000006955979,0.000007742044,0.000041254592,8.1371456e-7,0.000084437444],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9996586,0.00007280421,0.000044409182,0.00009229762,0.00008101095,0.00005082296],"domain_scores_gemma":[0.9993894,0.00013197563,0.00030186624,0.000023245037,0.000064443324,0.00008901247],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00047424884,0.00044872393,0.00036069646,0.0012200141,0.0005044451,0.00039439494,0.0002614871,0.0006472875,0.0011337872],"category_scores_gemma":[0.002184069,0.00017491137,0.00021146696,0.00058766484,0.00031637476,0.0004046674,0.00039458802,0.00040219605,0.00015146697],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00013250842,0.000059759557,0.9940632,0.000021818056,0.000016342574,0.001538127,0.00032475143,0.000023203547,0.0010015754,0.000012293425,0.000043641296,0.0027629419],"study_design_scores_gemma":[0.00000636686,0.0004342623,0.99348676,0.000014182486,0.000020720665,0.0052150255,0.00047571844,0.00008071398,0.000120623576,0.00002387387,0.00011774902,0.0000040482732],"about_ca_topic_score_codex":0.0012966384,"about_ca_topic_score_gemma":0.0015131811,"teacher_disagreement_score":0.0012966384,"about_ca_system_score_codex":0.00017008619,"about_ca_system_score_gemma":0.00012318155,"threshold_uncertainty_score":0.0037929416},"labels":[],"label_agreement":null},{"id":"W4412177682","doi":"10.1186/s13023-025-03885-z","title":"Pulmonary alveolar proteinosis and anemia may be associated with poor prognosis in patients with IARS1 variants","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"National Natural Science Foundation of China; Health and Family Planning Commission of Sichuan Province; BC Cancer Agency; Shanghai Municipal Health Commission","keywords":"Pulmonary alveolar proteinosis; Human genetics; Medicine; Anemia; Intensive care medicine; Internal medicine; Bioinformatics; Pathology; Genetics; Biology; Gene; Lung","score_opus":0.0038667558872964324,"score_gpt":0.20410192303265767,"score_spread":0.20023516714536124,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4412177682","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9977278,0.0009452459,0.00031100278,0.00007664754,0.0000113551105,0.0000075297453,0.0001428533,0.000022642887,0.0007549696],"genre_scores_gemma":[0.99946576,0.00014226907,0.00013105328,0.0000118548905,0.000014805393,0.000003377107,0.0001453515,0.0000025185745,0.000082990824],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9997687,0.000053277166,0.00003305355,0.00005699666,0.000037525657,0.00005053006],"domain_scores_gemma":[0.99837023,0.00046155357,0.0007290859,0.000066887354,0.00011302381,0.00025923224],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00040775072,0.00040609803,0.00041799838,0.00063371187,0.0003983617,0.0003628994,0.00026102178,0.00042099864,0.0015309257],"category_scores_gemma":[0.001994312,0.00013806201,0.0002914495,0.00062640075,0.00033569336,0.00030817583,0.00028592217,0.0004406449,0.00030985393],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00032565926,0.000015451164,0.9827361,0.00002321245,0.000040690815,0.0119823925,0.000075440505,0.00013881137,0.0011311162,0.00006457755,0.00017318888,0.0032934393],"study_design_scores_gemma":[0.000023123022,0.00031056328,0.9054076,0.000032476106,0.00010283796,0.09129702,0.0002153274,0.00082260487,0.0006107078,0.00037304006,0.000786704,0.000017984783],"about_ca_topic_score_codex":0.0005567515,"about_ca_topic_score_gemma":0.0006087091,"teacher_disagreement_score":0.0015309257,"about_ca_system_score_codex":0.00015647335,"about_ca_system_score_gemma":0.00018857671,"threshold_uncertainty_score":0.00512141},"labels":[],"label_agreement":null},{"id":"W4412467081","doi":"10.1186/s13023-025-03875-1","title":"Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Artificial Intelligence in Healthcare and Education","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"National Human Genome Research Institute; National Institutes of Health; Bundesministerium für Bildung und Forschung","keywords":"Health care; Family medicine; Medicine; Medical imaging; Radiology","score_opus":0.11251273996295677,"score_gpt":0.45480874686850664,"score_spread":0.34229600690554984,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4412467081","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99247205,0.0013434927,0.00023903874,0.0032034742,0.000024866871,0.00004724527,0.000327524,0.000010286906,0.0023320133],"genre_scores_gemma":[0.9970228,0.0013488969,0.0003221416,0.0009011765,0.000018138993,0.000032042528,0.00016389816,0.0000026285813,0.00018823051],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99686843,0.0014311018,0.00043795994,0.00022984309,0.0006865192,0.0003461632],"domain_scores_gemma":[0.9880178,0.0045918305,0.0037711982,0.00030152913,0.0018772084,0.0014404769],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004121858,0.00017457014,0.00027233138,0.0013222125,0.00042111982,0.0009861976,0.00029930516,0.0009314394,0.0013811666],"category_scores_gemma":[0.016476125,0.00022014516,0.00036756363,0.0015468023,0.0006282224,0.0010782256,0.00093698653,0.0006124542,0.0003096779],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000030677966,0.00007658795,0.9816727,0.00012268321,0.000032961972,0.00010048007,0.0036942917,0.000086729255,0.00013268848,0.00008506563,0.0016513908,0.012313684],"study_design_scores_gemma":[0.000014132373,0.00031565392,0.9774122,0.00020050372,0.000025763547,0.0006556351,0.015523205,0.0007475808,0.000083288534,0.00011187077,0.0048947684,0.000015456559],"about_ca_topic_score_codex":0.0036889531,"about_ca_topic_score_gemma":0.0028644511,"teacher_disagreement_score":0.004121858,"about_ca_system_score_codex":0.00051657256,"about_ca_system_score_gemma":0.0008541682,"threshold_uncertainty_score":0.02179873},"labels":[],"label_agreement":null},{"id":"W4412657710","doi":"10.1186/s13023-025-03913-y","title":"Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire study","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Arthrogryposis multiplex congenita; Medicine; Caesarean section; Pregnancy; Family medicine; Childbirth; Obstetrics; Gynecology; Arthrogryposis","score_opus":0.010252631860071512,"score_gpt":0.28641551359333084,"score_spread":0.2761628817332593,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4412657710","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.99894994,0.00016723391,0.000045325098,0.00009996826,0.00000423976,0.00006798928,0.00013957519,0.000001269226,0.00052439305],"genre_scores_gemma":[0.9985337,0.00047462192,0.00019008963,0.00014784274,0.000006416914,0.00012878998,0.0001343456,0.0000012409056,0.00038282468],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99869674,0.0005765893,0.00017013759,0.00011174358,0.00019962665,0.0002451802],"domain_scores_gemma":[0.99696666,0.0013295334,0.0009211542,0.000063842126,0.00027214835,0.00044663728],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0022389626,0.0001974358,0.0003107885,0.0008199118,0.0005403764,0.000572882,0.00021627438,0.00060437864,0.0016485237],"category_scores_gemma":[0.005803107,0.00027108533,0.00030167695,0.0013482018,0.00032795835,0.00054736686,0.00045735695,0.00048548315,0.00027596313],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00007381453,0.0003955137,0.96777225,0.00018560776,0.000024003913,0.0008268195,0.019262237,0.00005126977,0.00047261917,0.00006967397,0.00046134018,0.010404833],"study_design_scores_gemma":[0.000014297916,0.0010399312,0.96658015,0.00015067507,0.000020814598,0.001268532,0.028708152,0.00012808987,0.00007344284,0.000025453983,0.0019738006,0.00001668848],"about_ca_topic_score_codex":0.006754635,"about_ca_topic_score_gemma":0.006213258,"teacher_disagreement_score":0.006754635,"about_ca_system_score_codex":0.0005643115,"about_ca_system_score_gemma":0.0007985705,"threshold_uncertainty_score":0.013430655},"labels":[],"label_agreement":null},{"id":"W4412700966","doi":"10.1186/s13023-025-03739-8","title":"Unmet needs in hereditary angioedema: an international survey of physicians","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Toronto; University of Alberta","funders":"CSL Limited; Grifols; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Glenmark Pharmaceuticals; Argenx; Celltrion; Pfizer; Incyte; LEO Pharma; Charité – Universitätsmedizin Berlin; Kiniksa Pharmaceuticals; BioCryst; Fundació Institut de Recerca Hospital Universitari Vall d’Hebron; Galderma; Ono Pharmaceutical; Eli Lilly and Company; AstraZeneca; CSL Behring; Amgen; Pennsylvania State University; Menarini Group; Swedish Orphan Biovitrum; University of Pennsylvania; Regeneron Pharmaceuticals; Ionis Pharmaceuticals; Canadian Blood Services; Teva Pharmaceutical Industries; Workplace Safety and Insurance Board; Sanofi; Celldex Therapeutics","keywords":"Hereditary angioedema; Medicine; Family medicine; Reimbursement; Angioedema; Health care; Immunology","score_opus":0.01731783601450037,"score_gpt":0.29689722440936084,"score_spread":0.27957938839486046,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4412700966","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9963438,0.0003878164,0.000057372286,0.0007890898,0.000011713398,0.000027461892,0.0009556105,0.0000050676485,0.0014220038],"genre_scores_gemma":[0.9985875,0.00032762002,0.00012513009,0.00031401287,0.000012606357,0.000029925237,0.00045453812,0.0000023576529,0.00014644221],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99816257,0.0005733656,0.00034949838,0.00019792757,0.00046488104,0.0002517772],"domain_scores_gemma":[0.99158454,0.0017819444,0.004288427,0.000195484,0.00080958544,0.0013400497],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0020324972,0.00014866742,0.00023411775,0.0012214856,0.000372807,0.00064376014,0.00026445158,0.00057107914,0.0016007815],"category_scores_gemma":[0.008268383,0.00019002665,0.00034578057,0.0015128222,0.0003197174,0.0009866073,0.000930872,0.0005695747,0.00025567616],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000030015353,0.00004337009,0.99348927,0.000056593104,0.000029309731,0.00009092795,0.001773721,0.000045787896,0.0000933358,0.00003658734,0.0008897277,0.0034213876],"study_design_scores_gemma":[0.0000058292644,0.000098209406,0.99454874,0.000052080384,0.000010219873,0.00031129047,0.0037422176,0.00014408503,0.000034411314,0.000023776038,0.0010224031,0.000006589189],"about_ca_topic_score_codex":0.005604607,"about_ca_topic_score_gemma":0.0047446997,"teacher_disagreement_score":0.005604607,"about_ca_system_score_codex":0.00055100064,"about_ca_system_score_gemma":0.00056693546,"threshold_uncertainty_score":0.011143923},"labels":[],"label_agreement":null},{"id":"W4412701935","doi":"10.1186/s13023-025-03911-0","title":"Lessons learned from a muscle study in nail-patella syndrome","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"European Regional Development Fund; Universitätsklinikum Essen","keywords":"Muscle biopsy; Muscular dystrophy; Skeletal muscle; Pathology; Muscle weakness; ITGA7; Medicine; Muscle disorder; Biology; Muscle contracture; Biopsy; Anatomy; Internal medicine","score_opus":0.01588430250209383,"score_gpt":0.27679011556551636,"score_spread":0.26090581306342253,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4412701935","genre_codex":"review","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.08143178,0.4558006,0.014532872,0.4120907,0.02000208,0.000106943735,0.00046071594,0.0004187584,0.015155652],"genre_scores_gemma":[0.33928138,0.43251806,0.035872977,0.12468941,0.055687085,0.0001822654,0.0005607336,0.00022694959,0.010981124],"study_design_codex":"design_other","study_design_gemma":"case_report","domain_scores_codex":[0.99907184,0.00027732967,0.000119724406,0.0002424825,0.00016896041,0.00011964166],"domain_scores_gemma":[0.99645174,0.0012330107,0.00015028345,0.0003887598,0.0010370071,0.0007392224],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0031701878,0.0008535494,0.0010653721,0.0015579996,0.0006694143,0.0015147252,0.0016943404,0.004943471,0.002124758],"category_scores_gemma":[0.0054072645,0.00027295106,0.0009944002,0.00052854966,0.0031343352,0.0039576753,0.0018795084,0.0058193523,0.0012984019],"study_design_candidate":"case_report","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0009963539,0.0006802892,0.03756665,0.0050338185,0.0004400835,0.097052075,0.0036347145,0.0012787078,0.03539647,0.03144526,0.17968108,0.60679454],"study_design_scores_gemma":[0.00031269257,0.001485611,0.05675174,0.008370162,0.0005218299,0.17226882,0.0118513685,0.002734408,0.008221806,0.1430549,0.594066,0.00036065248],"about_ca_topic_score_codex":0.002479486,"about_ca_topic_score_gemma":0.0028927731,"teacher_disagreement_score":0.004943471,"about_ca_system_score_codex":0.0013843892,"about_ca_system_score_gemma":0.0011180361,"threshold_uncertainty_score":0.016765773},"labels":[],"label_agreement":null},{"id":"W4412832004","doi":"10.1186/s13023-025-03887-x","title":"Family planning, sexual activity and contraception in hereditary hemorrhagic telangiectasia: a European survey study","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"Hospices Civils de Lyon; European Commission","keywords":"Telangiectasia; Medicine; Affect (linguistics); Family planning; Family medicine; Sexual life; Sexually active; Quarter (Canadian coin); Pediatrics; Gynecology; Population; Psychology; Surgery; Environmental health","score_opus":0.01948770408274788,"score_gpt":0.2931100887047642,"score_spread":0.2736223846220163,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4412832004","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9982546,0.00028799463,0.00006239147,0.00004659328,0.0000025525787,0.000020028992,0.0008399646,0.0000018653866,0.00048402476],"genre_scores_gemma":[0.99870515,0.00031007157,0.000098393815,0.000066626766,0.000004055756,0.000022172784,0.00064034713,0.0000010648296,0.0001521702],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9992638,0.00029078746,0.00014829212,0.00011997431,0.000104817045,0.00007229262],"domain_scores_gemma":[0.99849343,0.0003717584,0.0006612631,0.000096494354,0.00013689681,0.00024020203],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0010748687,0.0001594638,0.00025118463,0.0008547356,0.00020317033,0.00041023505,0.00019074694,0.0003362832,0.0012371506],"category_scores_gemma":[0.0020963955,0.00015501725,0.00037364743,0.0016193412,0.00017408941,0.000386022,0.00037555906,0.00028086494,0.00017823697],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.000041533174,0.000044823737,0.99740833,0.000028594022,0.000045980007,0.00009820478,0.00021695538,0.000022125838,0.0000771274,0.00001389058,0.00014125905,0.0018611366],"study_design_scores_gemma":[0.000005150582,0.000080830556,0.99878806,0.000011597367,0.000015704172,0.0003925109,0.0003565245,0.000051381576,0.000027409204,0.000005908416,0.00026219364,0.0000028359975],"about_ca_topic_score_codex":0.007052811,"about_ca_topic_score_gemma":0.0063009183,"teacher_disagreement_score":0.007052811,"about_ca_system_score_codex":0.00030398954,"about_ca_system_score_gemma":0.0003071539,"threshold_uncertainty_score":0.014023542},"labels":[],"label_agreement":null},{"id":"W4412956786","doi":"10.1186/s13023-025-03793-2","title":"From genes to therapy: navigating the complex landscape of neurofibromatosis management in Canada through advanced diagnostic, targeted therapies, and holistic care","year":2025,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"","funders":"","keywords":"Psychological intervention; Quality of life (healthcare); Disease; Health care; Medicine; Genome editing; CRISPR; Nursing; Political science; Gene; Biology; Pathology","score_opus":0.029456570023992462,"score_gpt":0.30908926125679786,"score_spread":0.27963269123280543,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4412956786","genre_codex":"commentary","genre_gemma":"review","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.07463568,0.038235318,0.0050461246,0.788312,0.0032641368,0.00023690113,0.00068220333,0.0002478756,0.08933971],"genre_scores_gemma":[0.6503573,0.08478044,0.025177527,0.1759183,0.00080660055,0.00016869046,0.00085560954,0.00029589754,0.061639715],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.9972339,0.00048402883,0.00009122028,0.00020874935,0.000841138,0.0011409878],"domain_scores_gemma":[0.9947719,0.00030600943,0.0002169158,0.000054907126,0.001404381,0.003245896],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0013672757,0.00048023244,0.00036404462,0.00095920655,0.014187223,0.006678114,0.0017785999,0.002539044,0.0072072763],"category_scores_gemma":[0.0042623957,0.0003088974,0.0005394498,0.0017673697,0.004810209,0.0019897523,0.0048848656,0.004539718,0.00071253866],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00022936768,0.00027495157,0.052011773,0.0017118425,0.00016555146,0.007977527,0.025808988,0.0027299589,0.004118264,0.04816594,0.4444287,0.41237715],"study_design_scores_gemma":[0.00008240352,0.00019475757,0.047648225,0.0023104777,0.00018226034,0.0037698706,0.075789735,0.0015724273,0.0013073243,0.015341773,0.8514808,0.0003200755],"about_ca_topic_score_codex":0.98277676,"about_ca_topic_score_gemma":0.9955733,"teacher_disagreement_score":0.120193236,"about_ca_system_score_codex":0.120193236,"about_ca_system_score_gemma":0.3372797,"threshold_uncertainty_score":0.87206703},"labels":[],"label_agreement":null},{"id":"W4413028410","doi":"10.1186/s13023-025-03904-z","title":"Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Ottawa Public Health; BC Children's Hospital; Université de Sherbrooke; Children's Hospital of Eastern Ontario; University of Calgary; Muscular Dystrophy Canada; University of Ottawa; Ottawa Hospital","funders":"Canadian Institutes of Health Research; Canada Foundation for Innovation; Canada First Research Excellence Fund; Canada Research Chairs; European Commission; Physicians' Services Incorporated Foundation; Muscular Dystrophy Canada; Government of Canada; Canada Research Coordinating Committee; University of Ottawa","keywords":"Respondent; Quality of life (healthcare); Gerontology; Descriptive statistics; Neuromuscular disease; Medicine; Psychology; Disease; Nursing","score_opus":0.009592790922571601,"score_gpt":0.3054585507321856,"score_spread":0.295865759809614,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413028410","genre_codex":"protocol","genre_gemma":"protocol","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"protocol","genre_consensus":"protocol","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0018545613,0.000094601244,0.0012552988,0.00011126359,0.000059399237,0.9921874,0.0035165544,0.000038422007,0.00088244723],"genre_scores_gemma":[0.0011057663,0.00010224033,0.0016795748,0.00008746088,0.000012682744,0.9959831,0.0007781692,0.0000039519105,0.00024702164],"study_design_codex":"not_applicable","study_design_gemma":"observational","domain_scores_codex":[0.9883139,0.0057872795,0.0024094093,0.001104812,0.0012096821,0.0011747888],"domain_scores_gemma":[0.9855134,0.0035054774,0.0017479437,0.0016102927,0.00574796,0.0018749865],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.03754392,0.003551014,0.004626553,0.004755505,0.005037624,0.0035177409,0.004616491,0.003115906,0.05341823],"category_scores_gemma":[0.019457968,0.00421996,0.0031398986,0.004698555,0.0020099136,0.0031249463,0.0030035204,0.004378564,0.012891454],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.1117108,0.058859695,0.07294907,0.078823105,0.0021180748,0.0044581415,0.017484678,0.011904693,0.0053353584,0.030999906,0.3410204,0.2643361],"study_design_scores_gemma":[0.1307269,0.02962935,0.21133459,0.041994162,0.001232132,0.0011711227,0.015940934,0.01432406,0.003946385,0.017050317,0.53151846,0.0011315297],"about_ca_topic_score_codex":0.016277108,"about_ca_topic_score_gemma":0.025702333,"teacher_disagreement_score":0.05341823,"about_ca_system_score_codex":0.0073880325,"about_ca_system_score_gemma":0.03637612,"threshold_uncertainty_score":0.19855362},"labels":[],"label_agreement":null},{"id":"W4413050001","doi":"10.1186/s13023-025-03900-3","title":"Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Muscle metabolism and nutrition","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"BC Children's Hospital; SickKids Foundation; University of Toronto; University of Alberta; University of British Columbia; Hospital for Sick Children; University of Ottawa","funders":"National Institutes of Health; Patient-Centered Outcomes Research Institute; National Institute of Mental Health; U.S. Department of Health and Human Services","keywords":"Core (optical fiber); Transporter; Creatine; Methyltransferase; Outcome (game theory); Internal medicine; Genetics; Medicine; Endocrinology; Biology; Computer science; Mathematics; Gene; Methylation","score_opus":0.02767465785226485,"score_gpt":0.30561268977128564,"score_spread":0.2779380319190208,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413050001","genre_codex":"empirical","genre_gemma":"methods","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"methods","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.6772768,0.0035535712,0.18377227,0.014708934,0.00185637,0.06454221,0.010891508,0.00049826025,0.042900056],"genre_scores_gemma":[0.6489267,0.0013055273,0.22764717,0.0018079289,0.00026692206,0.10580882,0.012611404,0.0001369069,0.0014886175],"study_design_codex":"observational","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.96315,0.020752868,0.0078111026,0.0011937517,0.0054872734,0.001604942],"domain_scores_gemma":[0.89417547,0.03557025,0.015241901,0.005391611,0.043027163,0.0065935845],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.08467259,0.0011958794,0.0017195195,0.003606691,0.002104454,0.0022161852,0.0015059428,0.0010519826,0.0030952105],"category_scores_gemma":[0.10707056,0.00031381563,0.0035910716,0.002029449,0.0015158029,0.0028730636,0.0059751594,0.0026306391,0.00064913626],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.005610106,0.003936363,0.48366642,0.006260872,0.0010616642,0.0004085594,0.007785099,0.0049906,0.002626013,0.023695145,0.03348653,0.42647266],"study_design_scores_gemma":[0.0030929276,0.01636011,0.7242169,0.012827577,0.0021175377,0.0011463813,0.01803414,0.027932031,0.018565383,0.055153992,0.120050676,0.0005022822],"about_ca_topic_score_codex":0.0022007339,"about_ca_topic_score_gemma":0.005279611,"teacher_disagreement_score":0.08467259,"about_ca_system_score_codex":0.0055033155,"about_ca_system_score_gemma":0.016547285,"threshold_uncertainty_score":0.44779682},"labels":[],"label_agreement":null},{"id":"W4413117792","doi":"10.1186/s13023-025-03927-6","title":"A cost-utility analysis of newborn screening for spinal muscular atrophy in Canada","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"University of Alberta; McGill University Health Centre; Institute of Health Economics; Children's Hospital of Eastern Ontario","funders":"Muscular Dystrophy Canada","keywords":"Spinal muscular atrophy; Human genetics; Medicine; Newborn screening; Physical medicine and rehabilitation; Pediatrics; Genetics; Pathology; Biology; Disease","score_opus":0.0303216093900983,"score_gpt":0.33125911322744567,"score_spread":0.30093750383734735,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413117792","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9258928,0.0070853075,0.013749125,0.005866523,0.00015122545,0.0021165696,0.02036991,0.00017710151,0.024591474],"genre_scores_gemma":[0.9880356,0.0014063682,0.0052483403,0.0002306935,0.000017809765,0.00023712771,0.0026675726,0.000019956495,0.0021364507],"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","domain_scores_codex":[0.9980128,0.0008415674,0.000060559083,0.0001720152,0.00040409682,0.0005088789],"domain_scores_gemma":[0.99365187,0.0038821592,0.0003152736,0.00010533798,0.0014633124,0.0005818742],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0035478938,0.0012347603,0.0013561732,0.0023340543,0.0012503237,0.002342438,0.0018198305,0.0012666272,0.0049665296],"category_scores_gemma":[0.01294493,0.00077722967,0.002234523,0.00349068,0.0008672213,0.00067693,0.0011114993,0.0016071437,0.00020117404],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":true,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0017634814,0.0003071272,0.027989538,0.0005697799,0.00069159525,0.0004506679,0.000087273685,0.9369569,0.00032127317,0.00843091,0.005103835,0.017327579],"study_design_scores_gemma":[0.00061983406,0.0004900435,0.017130619,0.00020517179,0.000714166,0.00016023964,0.00036633023,0.97409827,0.00021188884,0.0029636098,0.0029554262,0.00008429071],"about_ca_topic_score_codex":0.9412924,"about_ca_topic_score_gemma":0.8706537,"teacher_disagreement_score":0.9271421,"about_ca_system_score_codex":0.07285794,"about_ca_system_score_gemma":0.054221224,"threshold_uncertainty_score":0.5286238},"labels":[],"label_agreement":null},{"id":"W4413272564","doi":"10.1186/s13023-025-03955-2","title":"Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Family and Disability Support Research","field":"Psychology","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University Health Network; Hospital for Sick Children; Izaak Walton Killam Health Centre; Dalhousie University","funders":"Canadian Institutes of Health Research","keywords":"Depression (economics); Psychology; Human genetics; Deletion syndrome; Developmental psychology; Clinical psychology; Psychiatry; Genetics; Biology; Gene","score_opus":0.0396272066770558,"score_gpt":0.37957935623597316,"score_spread":0.3399521495589174,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413272564","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9996487,0.00009213348,0.000041832332,0.000027304719,0.0000018767788,0.000007096168,0.000073355535,9.4485813e-7,0.000106644475],"genre_scores_gemma":[0.99954873,0.00009988967,0.00010978605,0.0000072209,0.0000023097969,0.00001736087,0.00015690517,4.6990587e-7,0.000057316316],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9992353,0.0003583979,0.00006634027,0.00008001804,0.00011571945,0.00014435798],"domain_scores_gemma":[0.99731416,0.0011002342,0.0008681998,0.00008666202,0.00022969754,0.000401022],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0018808991,0.00045212402,0.0003534984,0.0008534372,0.00062310405,0.00063256995,0.00038679485,0.00029411275,0.0012442962],"category_scores_gemma":[0.005977961,0.00031740227,0.00066845166,0.0006786605,0.0002889812,0.0003611861,0.0007721132,0.0005760657,0.00009847336],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00001761555,0.000028919201,0.9988022,0.0000068445543,0.000028855038,0.00004931337,0.00018552512,0.000036921505,0.000022629127,0.000005806438,0.000027857752,0.0007876017],"study_design_scores_gemma":[0.000003767365,0.00011249039,0.99777573,0.000012693001,0.00004049368,0.00013706704,0.0013886623,0.0003840382,0.000053274354,0.000018208346,0.00007044539,0.0000031508957],"about_ca_topic_score_codex":0.015869845,"about_ca_topic_score_gemma":0.027251394,"teacher_disagreement_score":0.015869845,"about_ca_system_score_codex":0.0008269098,"about_ca_system_score_gemma":0.001042593,"threshold_uncertainty_score":0.031554937},"labels":[],"label_agreement":null},{"id":"W4413375244","doi":"10.1186/s13023-025-03968-x","title":"Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Memorial University of Newfoundland; Provincial Health Services Authority; Centre for Advancing Health Outcomes; McGill Genome Centre; Providence Health Care; Women's Health Research Institute; BC Children's Hospital; McGill University; University of British Columbia","funders":"Canadian Institutes of Health Research; Genome Canada","keywords":"Psychology; Adaptation (eye); Developmental psychology; Clinical psychology; Descriptive statistics; Qualitative research; Structural equation modeling","score_opus":0.030576265547271848,"score_gpt":0.40699723568442153,"score_spread":0.3764209701371497,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413375244","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.997589,0.000078171666,0.0012877586,0.00007297986,0.0000035688895,0.0006016778,0.0000569404,0.000002389034,0.00030754047],"genre_scores_gemma":[0.9938205,0.0001661901,0.003961815,0.00010431091,0.0000042830284,0.0015860717,0.00009295991,0.000003474869,0.00026049008],"study_design_codex":"qualitative","study_design_gemma":"qualitative","domain_scores_codex":[0.9936092,0.0050376714,0.00028657683,0.000230276,0.0004164196,0.00041985337],"domain_scores_gemma":[0.99569356,0.002560195,0.00065775326,0.00026401939,0.0005929809,0.00023144118],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.013323901,0.00044719095,0.0005628703,0.0015065351,0.0016500595,0.001822214,0.0008980408,0.00052756537,0.0012024925],"category_scores_gemma":[0.011503681,0.00043980876,0.0006927658,0.001045354,0.0013018864,0.0012357192,0.0020986092,0.0007239739,0.00015586133],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00036017166,0.0024919389,0.36311135,0.00057602767,0.000081611855,0.0008879924,0.5847073,0.00022973352,0.003539436,0.0012539226,0.0003543599,0.04240615],"study_design_scores_gemma":[0.00011454348,0.002467667,0.22033496,0.00031992557,0.00007613929,0.0005681808,0.76980406,0.0011369773,0.0016337442,0.0008652815,0.0026336194,0.00004491794],"about_ca_topic_score_codex":0.0045111584,"about_ca_topic_score_gemma":0.009021154,"teacher_disagreement_score":0.013323901,"about_ca_system_score_codex":0.0022891022,"about_ca_system_score_gemma":0.0029712163,"threshold_uncertainty_score":0.07046437},"labels":[],"label_agreement":null},{"id":"W4413435732","doi":"10.1186/s13023-025-03948-1","title":"Psychometric evaluation of novel hyperphagia questionnaires in a real-world setting for patients with a rare MC4R pathway disease","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Disease; Medicine; Human genetics; Internal medicine; Biology; Genetics","score_opus":0.012769782637024055,"score_gpt":0.28698952063199956,"score_spread":0.2742197379949755,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413435732","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9977386,0.00020117345,0.0005322154,0.00010017408,0.000020563299,0.00035094045,0.00043414737,0.000017254793,0.0006048788],"genre_scores_gemma":[0.9962404,0.00013368073,0.0019917605,0.00007780481,0.000019401552,0.00059184653,0.0008128521,0.000006625118,0.00012569514],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9939699,0.003163051,0.00091587077,0.00042732476,0.0011941317,0.00032973298],"domain_scores_gemma":[0.98030454,0.008140179,0.006357406,0.0008122023,0.0032446105,0.0011410936],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0125947,0.0006623441,0.0008161923,0.0014770018,0.0006031667,0.00095553754,0.0006503379,0.00069112086,0.00119382],"category_scores_gemma":[0.02779533,0.0002980951,0.001435647,0.001490214,0.00056531146,0.0010532832,0.0014204566,0.000872577,0.00037600042],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00059968705,0.00068537274,0.97720647,0.00014467372,0.00016801998,0.0001221495,0.0009932934,0.0004124062,0.00043813625,0.000035423567,0.0005041549,0.018690215],"study_design_scores_gemma":[0.00017435639,0.0031711261,0.99190325,0.00007592524,0.0000722815,0.00045600045,0.001393301,0.0013467636,0.00036424675,0.00005458618,0.0009586351,0.000029653915],"about_ca_topic_score_codex":0.00096001936,"about_ca_topic_score_gemma":0.0015608892,"teacher_disagreement_score":0.0125947,"about_ca_system_score_codex":0.0006990107,"about_ca_system_score_gemma":0.00083602814,"threshold_uncertainty_score":0.06660795},"labels":[],"label_agreement":null},{"id":"W4413638354","doi":"10.1186/s13023-025-03987-8","title":"The impact of vanishing white matter on unaffected family members","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","keywords":"Human genetics; White matter; Genetics; Biology; Medicine; Gene","score_opus":0.0056252763744313716,"score_gpt":0.26721102549480175,"score_spread":0.26158574912037036,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413638354","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9991266,0.00014142618,0.00004737961,0.000017786442,0.0000017357669,0.0000054795223,0.000116711606,0.0000013752747,0.000541415],"genre_scores_gemma":[0.99968815,0.00006791044,0.000071893664,0.000009672859,0.000001615161,0.000005234569,0.00007239592,5.686589e-7,0.000082452985],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.999302,0.00034612382,0.000041163334,0.000111591544,0.00011419461,0.00008479638],"domain_scores_gemma":[0.9984072,0.00055432867,0.0005948746,0.00007600074,0.0001344893,0.0002331347],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008600094,0.00031331042,0.00022907034,0.0006627789,0.0005263996,0.0003662296,0.00024259479,0.00017925548,0.0020499239],"category_scores_gemma":[0.0035023184,0.00011909363,0.00017207401,0.0005126582,0.00040128359,0.00028605116,0.0005708631,0.00020639178,0.00012226852],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00013291328,0.000045152257,0.9908998,0.000027811451,0.00003301051,0.0015821308,0.0010430891,0.00006665921,0.00043968178,0.00004178594,0.00013392456,0.0055540926],"study_design_scores_gemma":[0.0000048053216,0.00031887038,0.9921727,0.000024803201,0.000050201656,0.0047603645,0.0016915549,0.000103302926,0.00038881035,0.00010510778,0.0003709138,0.000008524507],"about_ca_topic_score_codex":0.0030479755,"about_ca_topic_score_gemma":0.0038884436,"teacher_disagreement_score":0.0030479755,"about_ca_system_score_codex":0.00031021985,"about_ca_system_score_gemma":0.0003255075,"threshold_uncertainty_score":0.006857693},"labels":[],"label_agreement":null},{"id":"W4413772765","doi":"10.1186/s13023-025-03883-1","title":"Assessing racial differences in North American hereditary hemorrhagic telangiectasia study recruitment and care","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"St. Michael's Hospital","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; Rare Diseases Clinical Research Network","keywords":"Telangiectasia; Human genetics; Medicine; Genetics; Family medicine; Biology; Pathology; Gene","score_opus":0.028020420334867447,"score_gpt":0.31916163973189804,"score_spread":0.2911412193970306,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413772765","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.98925996,0.00037039357,0.0004848723,0.0010551148,0.000040675175,0.00039399244,0.00449218,0.000009966597,0.0038928313],"genre_scores_gemma":[0.99443156,0.00014275305,0.0006977165,0.00058400567,0.000027120777,0.00095653464,0.002438255,0.000006372532,0.0007156325],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9965609,0.0014766784,0.0003603543,0.0004915656,0.0006793514,0.0004312652],"domain_scores_gemma":[0.995915,0.0006686855,0.0015008115,0.0003713267,0.00087064574,0.00067363225],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0048562675,0.00019647449,0.0003141048,0.00074059167,0.0020245414,0.000705572,0.0008504636,0.00066586095,0.0035041631],"category_scores_gemma":[0.009786251,0.00025890017,0.0003913191,0.0014586971,0.00046565715,0.0005256076,0.0010853987,0.00067336956,0.0003822977],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00006211871,0.000057157606,0.99430674,0.000028124474,0.000041103525,0.000058852762,0.00098666,0.000027363596,0.00006193876,0.00012352143,0.0025646877,0.0016818038],"study_design_scores_gemma":[0.000014551525,0.000048719125,0.9971781,0.000035295638,0.000025926205,0.0000760777,0.0011192256,0.00013160224,0.00003836281,0.00006517755,0.0012628473,0.0000040885734],"about_ca_topic_score_codex":0.14320964,"about_ca_topic_score_gemma":0.22793832,"teacher_disagreement_score":0.14320964,"about_ca_system_score_codex":0.0019003158,"about_ca_system_score_gemma":0.0032502816,"threshold_uncertainty_score":0.28475213},"labels":[],"label_agreement":null},{"id":"W4413946393","doi":"10.1186/s13023-025-03961-4","title":"Measurement of fatigue in sickle cell disease: a systematic review of fatigue measures","year":2025,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":false,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"","funders":"Novo Nordisk; Fondation Maladies Rares; Rare Disease Foundation","keywords":"Disease; Medicine; Quality of life (healthcare); Physical therapy; Systematic review; Cognition; Chronic fatigue syndrome; MEDLINE; Inclusion and exclusion criteria; Clinical psychology; Psychiatry; Alternative medicine; Internal medicine; Pathology","score_opus":0.03746092828449635,"score_gpt":0.31247539854343315,"score_spread":0.27501447025893677,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413946393","genre_codex":"review","genre_gemma":"review","domain_codex":null,"domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"review","genre_consensus":"review","domain_candidate":"methods","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0010197544,0.9977564,0.00016260492,0.00019569111,0.00006193998,0.00026077978,0.000378144,0.0000065894938,0.00015813444],"genre_scores_gemma":[0.020642791,0.97607076,0.0012187817,0.00046454833,0.00006658432,0.0010725991,0.00038613344,0.000007060059,0.000070778806],"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","domain_scores_codex":[0.98478556,0.0053534145,0.0062389364,0.0009239881,0.0024175772,0.00028058043],"domain_scores_gemma":[0.9352647,0.048327506,0.010190424,0.0008913197,0.004925063,0.0004010562],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.016731378,0.0015218484,0.008195615,0.011545121,0.00073442725,0.0020272194,0.0020519423,0.001775696,0.003180578],"category_scores_gemma":[0.06855969,0.0009914355,0.010285762,0.010172438,0.0010215106,0.0025066028,0.0017517979,0.0011995604,0.00025017268],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00017593753,0.000019757385,0.0014612904,0.9406004,0.007669045,0.000044008844,0.000250275,0.00008901187,0.00007502981,0.00014850407,0.0010917238,0.048375018],"study_design_scores_gemma":[0.00024799834,0.00025685198,0.009801516,0.9256335,0.05001874,0.00028955145,0.0003053135,0.000102929436,0.00013593555,0.0002681041,0.012891618,0.000047884165],"about_ca_topic_score_codex":0.0089859385,"about_ca_topic_score_gemma":0.02452838,"teacher_disagreement_score":0.9832686,"about_ca_system_score_codex":0.0044758655,"about_ca_system_score_gemma":0.011048716,"threshold_uncertainty_score":0.08848506},"labels":[],"label_agreement":null},{"id":"W4414331676","doi":"10.1186/s13023-025-04023-5","title":"Correction: Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services","year":2025,"lang":"en","type":"erratum","venue":"Orphanet Journal of Rare Diseases","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"BC Children's Hospital; Women's Health Research Institute; University of British Columbia","funders":"","keywords":"Human genetics; Adaptation (eye); Medical genetics; MEDLINE; Identity (music); Genetic testing; Quality (philosophy)","score_opus":0.028983753375612837,"score_gpt":0.3943889901328974,"score_spread":0.3654052367572846,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4414331676","genre_codex":"editorial","genre_gemma":"other","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"other","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.0034512784,0.0011018552,0.005026518,0.15758164,0.8157293,0.00028540182,0.010201985,0.0006122512,0.00600975],"genre_scores_gemma":[0.22266155,0.0066128247,0.06693705,0.18715225,0.115599826,0.0060861055,0.0146909775,0.004819458,0.37544006],"study_design_codex":"not_applicable","study_design_gemma":"qualitative","domain_scores_codex":[0.9929518,0.0027098737,0.0014377147,0.00063395273,0.0019226276,0.00034394418],"domain_scores_gemma":[0.91157526,0.040626712,0.0037091526,0.0041994303,0.037821572,0.0020678453],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0102442065,0.0009678187,0.001082966,0.0014919988,0.0021182057,0.001737041,0.0025421847,0.0026727722,0.056085814],"category_scores_gemma":[0.2227472,0.0004918641,0.0008950569,0.0013275279,0.0013605296,0.0014821091,0.0015789398,0.0046535814,0.010796161],"study_design_candidate":"qualitative","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00008989221,0.000011088012,0.0008763982,0.00033300574,0.000018348006,0.00029667813,0.0002608045,0.000042616233,0.000029261286,0.0013481164,0.9842046,0.012489145],"study_design_scores_gemma":[0.00034418632,0.00010136194,0.009368925,0.003730703,0.00021764048,0.002464801,0.0023266403,0.001037587,0.0008037135,0.0060839965,0.97338945,0.00013094037],"about_ca_topic_score_codex":0.021950357,"about_ca_topic_score_gemma":0.030287944,"teacher_disagreement_score":0.056085814,"about_ca_system_score_codex":0.0028014332,"about_ca_system_score_gemma":0.007827834,"threshold_uncertainty_score":0.1876257},"labels":[],"label_agreement":null},{"id":"W4414459860","doi":"10.1186/s13023-025-03960-5","title":"The impact of the COVID-19 pandemic on incidence and clinical presentation of thrombotic microangiopathies: data from a laboratory centralizing ADAMTS-13 testing in Quebec","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Complement system in diseases","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Hôpital du Sacré-Cœur de Montréal; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"CHU Sainte-Justine Foundation; Alexion Pharmaceuticals; Sanofi","keywords":"Incidence (geometry); Pandemic; Thrombotic thrombocytopenic purpura; Coronavirus disease 2019 (COVID-19); Presentation (obstetrics); Epidemiology","score_opus":0.07218549731053872,"score_gpt":0.3876988607454773,"score_spread":0.31551336343493863,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4414459860","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.98900604,0.001220159,0.00020573178,0.00030920628,0.000019904592,0.000034913264,0.0069715744,0.000016431777,0.0022160658],"genre_scores_gemma":[0.99740666,0.00033883806,0.00007182617,0.000079403246,0.000009305716,0.000007370292,0.0018925103,0.000004536377,0.00018952032],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99885714,0.00015587237,0.000095177165,0.00019886592,0.00035514965,0.0003377865],"domain_scores_gemma":[0.99310416,0.00082246965,0.002203288,0.0002167914,0.002408426,0.0012448006],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0011143618,0.0003369621,0.00028271144,0.0011104256,0.00084962085,0.001215073,0.0008523888,0.00048241636,0.0018622476],"category_scores_gemma":[0.0038112372,0.0001855144,0.00048063937,0.0020560485,0.0005980075,0.0004377588,0.00057551335,0.00071607647,0.00017600365],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00006998407,0.000014129037,0.99758327,0.000014510506,0.000039048147,0.000045625315,0.00009524607,0.00012181448,0.00008584414,0.000021340029,0.0004276864,0.0014814392],"study_design_scores_gemma":[0.000003924747,0.00002231559,0.9991641,0.000016305148,0.000010810829,0.000058988408,0.00016329634,0.00022316515,0.00002984721,0.0000033294093,0.00030004905,0.000003903991],"about_ca_topic_score_codex":0.95431,"about_ca_topic_score_gemma":0.9503464,"teacher_disagreement_score":0.04569,"about_ca_system_score_codex":0.014481404,"about_ca_system_score_gemma":0.008769052,"threshold_uncertainty_score":0.10507041},"labels":[],"label_agreement":null},{"id":"W4415157028","doi":"10.1186/s13023-025-03966-z","title":"Feasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University Health Centre","funders":"National Center for Advancing Translational Sciences; National Heart, Lung, and Blood Institute; NHLBI Division of Intramural Research; National Institutes of Health","keywords":"Primary ciliary dyskinesia; Identification (biology); Disease; Dyskinesia; Human genetics; Diagnostic test","score_opus":0.01170165407289301,"score_gpt":0.3009877028072516,"score_spread":0.2892860487343586,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4415157028","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9436621,0.0007703726,0.050557345,0.0016115448,0.00010943788,0.00024868938,0.001211289,0.0005168846,0.0013122988],"genre_scores_gemma":[0.99003464,0.000062804094,0.008985742,0.00011133761,0.000026297224,0.000046741614,0.00060435786,0.000013223605,0.00011481227],"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","domain_scores_codex":[0.9943811,0.0037647812,0.0002955357,0.0009148474,0.00042405093,0.00021973411],"domain_scores_gemma":[0.96253335,0.032274544,0.0015136267,0.0014151,0.0017635457,0.000499885],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.021541344,0.0012866877,0.0009354772,0.001574068,0.00044494114,0.0013523536,0.0008883728,0.0012516457,0.00136161],"category_scores_gemma":[0.039133586,0.00046322573,0.0017962868,0.0006092225,0.0005398006,0.0008936389,0.0008947618,0.0014548966,0.0006493411],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0025313229,0.0007715366,0.70348006,0.00012396033,0.0008617009,0.00021917609,0.00012357636,0.22302812,0.001356222,0.0004234027,0.0019362404,0.06514463],"study_design_scores_gemma":[0.00007049784,0.00038395764,0.024728876,0.000031054526,0.00009729305,0.00010712672,0.000033329765,0.9727832,0.0006221134,0.00091830717,0.0002060018,0.000018215998],"about_ca_topic_score_codex":0.005509005,"about_ca_topic_score_gemma":0.0037143235,"teacher_disagreement_score":0.021541344,"about_ca_system_score_codex":0.0010211831,"about_ca_system_score_gemma":0.0020422088,"threshold_uncertainty_score":0.113922894},"labels":[],"label_agreement":null},{"id":"W4415296242","doi":"10.1186/s13023-025-03814-0","title":"Methodological challenges in outcomes research for early-trials for implementation of new therapies in neuropediatric rare diseases","year":2025,"lang":"en","type":"letter","venue":"Orphanet Journal of Rare Diseases","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Sante Montreal","funders":"National Human Genome Research Institute; European College of Neuropsychopharmacology","keywords":"Brainstorming; Disease; Identification (biology); Intervention (counseling); Presentation (obstetrics); Alternative medicine; MEDLINE; Precision medicine; Drug development","score_opus":0.26438170351223744,"score_gpt":0.4502045660143636,"score_spread":0.18582286250212615,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4415296242","genre_codex":"methods","genre_gemma":"commentary","domain_codex":"methods","domain_gemma":"methods","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"commentary","genre_consensus":null,"domain_candidate":"methods","domain_consensus":"methods","prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.01706526,0.060071673,0.46876496,0.2858436,0.046167333,0.09082907,0.005292759,0.0009522946,0.025012981],"genre_scores_gemma":[0.14613989,0.0073943087,0.53560144,0.054122217,0.0073480816,0.2450961,0.0014517053,0.00084670284,0.0019995417],"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.05738782,0.8670954,0.043504354,0.0077967052,0.022258425,0.0019573416],"domain_scores_gemma":[0.05868291,0.7938617,0.02996105,0.056085464,0.055957746,0.0054511377],"candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.82668555,0.0027504626,0.007372854,0.009658724,0.0058000567,0.021831801,0.013411008,0.0071398946,0.013284692],"category_scores_gemma":[0.86330724,0.0029666345,0.00834157,0.010078492,0.015778331,0.014889331,0.019155798,0.016720658,0.003930911],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.005931923,0.0014463153,0.020646837,0.070538186,0.007899487,0.00079616794,0.033895236,0.0073420727,0.0011984854,0.29850572,0.1072375,0.44456202],"study_design_scores_gemma":[0.0041075516,0.0040919753,0.020854114,0.12032691,0.0030891814,0.0007964304,0.016967295,0.013717032,0.0023231208,0.51488966,0.2979296,0.0009071287],"about_ca_topic_score_codex":0.0060771303,"about_ca_topic_score_gemma":0.006589088,"teacher_disagreement_score":0.17331445,"about_ca_system_score_codex":0.016377803,"about_ca_system_score_gemma":0.054169554,"threshold_uncertainty_score":0.21372765},"labels":[],"label_agreement":null},{"id":"W4415588054","doi":"10.1186/s13023-025-03980-1","title":"French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease","year":2025,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hotel Dieu Hospital","funders":"","keywords":"Enzyme replacement therapy; Glucocerebrosidase; Asymptomatic; Disease; Magnetic resonance imaging; Encephalopathy; Multidisciplinary approach; Genetic testing; Cytopenia","score_opus":0.03840639683362196,"score_gpt":0.4084529457773545,"score_spread":0.37004654894373257,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4415588054","genre_codex":"protocol","genre_gemma":"protocol","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"protocol","genre_consensus":"protocol","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.028266065,0.03112671,0.06418676,0.08461125,0.007721394,0.29129022,0.23029584,0.004265488,0.25823632],"genre_scores_gemma":[0.08606232,0.013788903,0.11897425,0.06375651,0.0022375933,0.4473199,0.21738942,0.00064315717,0.04982795],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.97672963,0.015477615,0.003257717,0.0011162417,0.0018269587,0.0015918212],"domain_scores_gemma":[0.9631571,0.010617233,0.0032687988,0.0019240713,0.018696,0.0023367456],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02888688,0.001177436,0.0016514756,0.0030505657,0.002261368,0.0024941794,0.0021818648,0.003657809,0.030550795],"category_scores_gemma":[0.049220953,0.00064274215,0.002523034,0.0023171424,0.00086313393,0.0012198979,0.0024512282,0.0024609554,0.0066686124],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0029766227,0.0003307939,0.009657129,0.005614266,0.000427233,0.00061035453,0.001033866,0.0015821747,0.00079089386,0.017168198,0.83516455,0.12464399],"study_design_scores_gemma":[0.003556659,0.0005147209,0.028059749,0.011279365,0.0002804629,0.00060328277,0.00042772279,0.0009087154,0.0006092036,0.003950304,0.94967616,0.0001337578],"about_ca_topic_score_codex":0.07210219,"about_ca_topic_score_gemma":0.05896228,"teacher_disagreement_score":0.07210219,"about_ca_system_score_codex":0.013566118,"about_ca_system_score_gemma":0.03692561,"threshold_uncertainty_score":0.15277028},"labels":[],"label_agreement":null},{"id":"W4415690129","doi":"10.1186/s13023-025-04064-w","title":"Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McGill University Health Centre; Centre Hospitalier Universitaire Sainte-Justine","funders":"BioMarin Pharmaceutical","keywords":"Enzyme replacement therapy; Human genetics; Clinical trial; Quality of life (healthcare); MEDLINE","score_opus":0.017340093101051657,"score_gpt":0.3132748690490572,"score_spread":0.29593477594800555,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4415690129","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9976259,0.00037278104,0.0000639298,0.000043616717,0.0000066449065,0.000021205478,0.001692602,0.0000033369888,0.00016993165],"genre_scores_gemma":[0.99664485,0.00017518435,0.00008214391,0.00004699477,0.000026077549,0.000052797193,0.0028461164,0.0000038145479,0.00012207546],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9978861,0.0008495667,0.0003417285,0.0004696805,0.00025595725,0.00019684322],"domain_scores_gemma":[0.99190474,0.000996457,0.0050699254,0.0007133809,0.00061340193,0.0007019423],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0032390729,0.00045319952,0.000790111,0.0009740986,0.00035596083,0.0010545739,0.00052725273,0.00050664897,0.0011191538],"category_scores_gemma":[0.0045859595,0.00033110465,0.0013054513,0.0014063664,0.00024239435,0.0007524589,0.0011771141,0.00061146816,0.0002856113],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0007942622,0.000064395485,0.9972914,0.000031374366,0.0003632221,0.000054165965,0.000058130106,0.000040276915,0.00012867256,0.000013753912,0.00023630736,0.00092399475],"study_design_scores_gemma":[0.00012603085,0.0004702699,0.9982659,0.00001975506,0.00022605428,0.000171022,0.00015088536,0.00017617102,0.00004780887,0.000012060719,0.00032682836,0.000007313724],"about_ca_topic_score_codex":0.0033785324,"about_ca_topic_score_gemma":0.0032259827,"teacher_disagreement_score":0.0033785324,"about_ca_system_score_codex":0.00045892582,"about_ca_system_score_gemma":0.0005034721,"threshold_uncertainty_score":0.017130077},"labels":[],"label_agreement":null},{"id":"W4415994570","doi":"10.1186/s13023-025-04098-0","title":"Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"Stornoway Diamond (Canada); Dalhousie University; Nova Scotia Health Authority; Vancouver General Hospital; University of British Columbia","funders":"","keywords":"Aspirin; Cohort; Incidence (geometry); Fabry disease; Stroke (engine); Stroke risk; Cohort study; Disease","score_opus":0.02546411988790738,"score_gpt":0.30838235840097034,"score_spread":0.28291823851306297,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4415994570","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9794449,0.00061850884,0.000054599375,0.000287545,0.000012327467,0.00003203432,0.017560251,0.00001726804,0.0019725359],"genre_scores_gemma":[0.9899692,0.00043971336,0.0000974069,0.00008289932,0.000009733293,0.0000214163,0.008979871,0.000005574699,0.0003942644],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99945754,0.000021235155,0.000026010612,0.00013356523,0.00018459851,0.00017719479],"domain_scores_gemma":[0.99904567,0.000040100418,0.00023169805,0.00006517164,0.00034381138,0.00027358695],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005633496,0.0003641503,0.00045935757,0.0015209987,0.001437704,0.00090858876,0.00095407834,0.0005750884,0.0019211557],"category_scores_gemma":[0.001804547,0.0003656388,0.0006752251,0.0035793995,0.00034749354,0.00036643265,0.0005100126,0.00073564786,0.00025584392],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00015396667,0.000019996713,0.996487,0.000013103201,0.00007877952,0.000057722522,0.000115899595,0.00009081937,0.000090669055,0.000054656426,0.0015876035,0.0012497053],"study_design_scores_gemma":[0.000008876073,0.000015060396,0.9991642,0.000007667635,0.00003477974,0.00005296767,0.0001252076,0.0001746128,0.00001493536,0.000015077527,0.0003800027,0.0000066665993],"about_ca_topic_score_codex":0.9514543,"about_ca_topic_score_gemma":0.93527025,"teacher_disagreement_score":0.04854572,"about_ca_system_score_codex":0.0064262906,"about_ca_system_score_gemma":0.009217117,"threshold_uncertainty_score":0.097663164},"labels":[],"label_agreement":null},{"id":"W4416392766","doi":"10.1186/s13023-025-04109-0","title":"Course of joint range of motion in children with spinal muscular atrophy receiving disease-modifying treatment","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"McMaster University","funders":"Stichting Spieren voor Spieren","keywords":"Range of motion; Wrist; Spinal muscular atrophy; Elbow; Motion (physics); Joint (building); Knee Joint","score_opus":0.0166352846121102,"score_gpt":0.29580335457473045,"score_spread":0.2791680699626202,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4416392766","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9994204,0.00018313472,0.00002878643,0.000017329166,0.0000013695504,0.000004995376,0.00024979655,0.000002024203,0.00009218793],"genre_scores_gemma":[0.9991812,0.000119370954,0.0000714511,0.000010325184,0.000004071015,0.000010310956,0.0005397415,0.0000014971899,0.00006209443],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99942833,0.00013809402,0.000066228604,0.00012418552,0.000091285634,0.0001519082],"domain_scores_gemma":[0.99764735,0.00045625525,0.0014361057,0.00008242139,0.00013985044,0.00023802706],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008395095,0.0002979207,0.00041259138,0.0009455254,0.00048099778,0.0005044335,0.00046627413,0.0004977574,0.0010671827],"category_scores_gemma":[0.0035008476,0.0002541576,0.00062887545,0.0009801773,0.0003561679,0.00039543267,0.00046903885,0.000640893,0.000162753],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00005215063,0.0000113046835,0.9992161,0.0000044944027,0.0000113129,0.00014800404,0.00007169536,0.00003326461,0.000045872297,0.0000039603474,0.000021251253,0.000380602],"study_design_scores_gemma":[0.000002375593,0.00007895219,0.99921894,0.000004506175,0.0000078679,0.00050380646,0.00008543559,0.000042332507,0.000017009144,0.000004149431,0.000032960037,0.0000016294888],"about_ca_topic_score_codex":0.013979786,"about_ca_topic_score_gemma":0.013595278,"teacher_disagreement_score":0.013979786,"about_ca_system_score_codex":0.0008787727,"about_ca_system_score_gemma":0.0005325097,"threshold_uncertainty_score":0.027796865},"labels":[],"label_agreement":null},{"id":"W4416596501","doi":"10.1186/s13023-025-04129-w","title":"The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Alkaline Phosphatase Research Studies","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of Manitoba","funders":"","keywords":"Hypophosphatasia; Disease; Human genetics; Population; MEDLINE; Public health; Population health","score_opus":0.07380027826583517,"score_gpt":0.40141518533138343,"score_spread":0.32761490706554824,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4416596501","genre_codex":"review","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":null,"domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.031509742,0.64840645,0.018313104,0.23674235,0.004578086,0.00085615634,0.04920499,0.001267948,0.00912122],"genre_scores_gemma":[0.1735359,0.6024399,0.08579548,0.045405153,0.006747086,0.0017514675,0.08220538,0.0010534277,0.0010663011],"study_design_codex":"design_other","study_design_gemma":"observational","domain_scores_codex":[0.9488663,0.024341526,0.011832007,0.004873243,0.008836379,0.0012505442],"domain_scores_gemma":[0.64425755,0.22708125,0.028839793,0.029501813,0.06132158,0.008998003],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.112710595,0.0014150115,0.004419641,0.0170384,0.0007417557,0.009989298,0.0054107686,0.003100852,0.003456101],"category_scores_gemma":[0.17756382,0.0012924562,0.0026872517,0.024822757,0.0027356707,0.019199302,0.0069032074,0.0068166936,0.001817232],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.0010431455,0.0003131499,0.10556879,0.043745343,0.0025700855,0.0010005442,0.0034893015,0.0025872027,0.00089369476,0.021795819,0.18806843,0.62892455],"study_design_scores_gemma":[0.0004043077,0.00061974063,0.12937373,0.120192885,0.0028480748,0.0024687683,0.0073294356,0.0031162745,0.0011740844,0.023470832,0.7085209,0.00048092142],"about_ca_topic_score_codex":0.012511449,"about_ca_topic_score_gemma":0.013294157,"teacher_disagreement_score":0.112710595,"about_ca_system_score_codex":0.004654659,"about_ca_system_score_gemma":0.015783524,"threshold_uncertainty_score":0.5960777},"labels":[],"label_agreement":null},{"id":"W4416810053","doi":"10.1186/s13023-025-04145-w","title":"Characterizing individuals with elevated sweat chloride results in the absence of CFTR variants","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"University of British Columbia","funders":"","keywords":"SWEAT; Cystic fibrosis; Human genetics; Ivacaftor; Genetic variants","score_opus":0.014266147402544525,"score_gpt":0.29800516313443776,"score_spread":0.28373901573189325,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4416810053","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.9983406,0.0002842868,0.00020591498,0.000061019648,0.000008352093,0.000020982026,0.00012540506,0.000007355079,0.000946006],"genre_scores_gemma":[0.99937445,0.000118387434,0.0002192891,0.00005306705,0.0000094700235,0.00000571912,0.000115048664,0.0000028099976,0.00010184896],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9996886,0.000045870886,0.000045941546,0.000092634786,0.00006117456,0.00006576644],"domain_scores_gemma":[0.999503,0.0001190208,0.00022453154,0.000019387038,0.000051184004,0.000082819344],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00034894058,0.00034842102,0.00029538627,0.00069077517,0.00043868597,0.00047470312,0.00023668083,0.00051927735,0.0015843691],"category_scores_gemma":[0.001081466,0.00008143432,0.00024630377,0.000493705,0.0003464978,0.00031392067,0.00040208583,0.00026460315,0.0002483532],"study_design_candidate":"observational","study_design_consensus":"observational","about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00020505003,0.00006687887,0.9741703,0.00004399236,0.000032977456,0.009662426,0.00030677853,0.000051704734,0.0101339705,0.00009192891,0.00024918572,0.004984679],"study_design_scores_gemma":[0.000011881805,0.00044189836,0.93363583,0.000047554193,0.00009105948,0.060222436,0.0008746614,0.0001906763,0.003166888,0.0001912372,0.0011130566,0.000012752253],"about_ca_topic_score_codex":0.0009306596,"about_ca_topic_score_gemma":0.0012498861,"teacher_disagreement_score":0.0015843691,"about_ca_system_score_codex":0.00015738702,"about_ca_system_score_gemma":0.00017842725,"threshold_uncertainty_score":0.0053002834},"labels":[],"label_agreement":null},{"id":"W4417112509","doi":"10.1186/s13023-025-04132-1","title":"How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases","year":2025,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":1,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":true,"ca_institutions":"York University","funders":"Social Sciences and Humanities Research Council; Social Sciences and Humanities Research Council of Canada; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Fundação de Amparo à Pesquisa do Estado de São Paulo; Agence Nationale de la Recherche","keywords":"Psychological intervention; European union; Rare disease; Pharmaceutical industry; Disease; Member states","score_opus":0.2591441516371175,"score_gpt":0.4446474258904103,"score_spread":0.18550327425329277,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4417112509","genre_codex":"empirical","genre_gemma":"empirical","domain_codex":null,"domain_gemma":null,"model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"empirical","genre_consensus":"empirical","domain_candidate":null,"domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.5022226,0.006725738,0.026514707,0.2106265,0.00065509905,0.00050540036,0.00010133047,0.00011600082,0.25253257],"genre_scores_gemma":[0.9888937,0.0013701154,0.0029874803,0.004081587,0.00008178731,0.00009670901,0.000014807572,0.000020060454,0.0024538182],"study_design_codex":"qualitative","study_design_gemma":"observational","domain_scores_codex":[0.94363177,0.043598454,0.0008910737,0.0021763602,0.006082224,0.003620205],"domain_scores_gemma":[0.9545702,0.032510597,0.005086003,0.0015312001,0.0027891889,0.003512799],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.028205663,0.00052413926,0.0004734893,0.0023821113,0.013428861,0.013871597,0.0017984171,0.0064881034,0.003503617],"category_scores_gemma":[0.03432354,0.00034124884,0.0009081807,0.0019667954,0.05243082,0.0092892945,0.011735776,0.004494734,0.0003328476],"study_design_candidate":"observational","study_design_consensus":null,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_system_candidate":false,"about_ca_system_consensus":false,"study_design_scores_codex":[0.00003887634,0.000076049575,0.00818887,0.00052117836,0.00006372525,0.0023630944,0.57943106,0.0008659921,0.0016256061,0.37260783,0.0048150993,0.029402629],"study_design_scores_gemma":[0.000059382455,0.00014849544,0.004526582,0.001002491,0.00007434341,0.0015396954,0.54970634,0.0016623145,0.0013352156,0.098852806,0.3410174,0.00007504098],"about_ca_topic_score_codex":0.02387144,"about_ca_topic_score_gemma":0.029012362,"teacher_disagreement_score":0.028205663,"about_ca_system_score_codex":0.020563047,"about_ca_system_score_gemma":0.029720766,"threshold_uncertainty_score":0.14919609},"labels":[],"label_agreement":null}]}