{"meta":{"query_hash":"bfff22a6d55d","filters":{"venue":"Case Reports in Genetics"},"cohort_total":12,"direct_labels_cover":0,"predictions_cover":12,"exported":12,"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/bfff22a6d55d","api":"https://metacan.xera.ac/api/v1/cohort?venue=Case+Reports+in+Genetics"},"results":[{"id":"W1530807287","doi":"10.1155/2015/474097","title":"PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication","year":2015,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Genetic Syndromes and Imprinting","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":"University of Manitoba; Shared Health; Winnipeg Regional Health Authority","funders":"","keywords":"Multiplex ligation-dependent probe amplification; Angelman syndrome; Genetics; Gene duplication; Genomic imprinting; Copy-number variation; Imprinting (psychology); Chromosome 15; Uniparental disomy; Biology; Medicine; Gene; Chromosome; DNA methylation; Genome; Karyotype","score_opus":0.023169774058054888,"score_gpt":0.2889852929844233,"score_spread":0.26581551892636845,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W1530807287","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":[0.9912985,0.0006685723,0.0055114687,0.00018056025,0.000028977138,0.000018711615,0.00028431808,0.00015771126,0.0018513312],"genre_scores_gemma":[0.996938,0.00025112275,0.0016651879,0.000042895183,0.00001270549,0.0000067757765,0.00017502761,0.000012054247,0.0008963503],"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","domain_scores_codex":[0.9997857,0.000019028741,0.000018710212,0.00007881487,0.000049989252,0.000047853628],"domain_scores_gemma":[0.9998462,0.000046333553,0.000028454277,0.000013982604,0.000025065689,0.00003997201],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00014581306,0.0003159802,0.00020513908,0.0009569511,0.00016629056,0.00015429642,0.00018257486,0.0003177668,0.0019755918],"category_scores_gemma":[0.00041796174,0.00014285241,0.00017556468,0.00018271175,0.00028405339,0.000120822,0.00026048627,0.00038820188,0.00041212555],"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":[0.00018384821,0.000029166042,0.04457896,0.000062480554,0.000020962983,0.031887095,0.0002808759,0.00010966976,0.9150905,0.00021635629,0.00026378097,0.007276398],"study_design_scores_gemma":[0.000025985337,0.00063817424,0.29255596,0.000021092028,0.000092597526,0.15409403,0.0002839254,0.0032629273,0.5425131,0.00031140665,0.0061775944,0.000023140929],"about_ca_topic_score_codex":0.0016065914,"about_ca_topic_score_gemma":0.0021341282,"teacher_disagreement_score":0.0019755918,"about_ca_system_score_codex":0.00018092594,"about_ca_system_score_gemma":0.000120890094,"threshold_uncertainty_score":0.0066090226},"labels":[],"label_agreement":null},{"id":"W2121855216","doi":"10.1155/2012/578018","title":"Autism Spectrum Disorder in a Girl with a<i>De Novo</i>X;19 Balanced Translocation","year":2012,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"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":"Universidade Estadual Paulista; Queen's University","keywords":"Chromosomal translocation; Karyotype; X chromosome; Genetics; Breakpoint; Monosomy; Girl; Autism; Medicine; Biology; Chromosome; Gene; Psychiatry","score_opus":0.00713132799962971,"score_gpt":0.2334217001781766,"score_spread":0.2262903721785469,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2121855216","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":[0.9934783,0.00066810026,0.0005859652,0.0011215024,0.000088705405,0.000047281406,0.00022867034,0.00010950982,0.003671826],"genre_scores_gemma":[0.99683833,0.00063808373,0.00067907054,0.00028470598,0.00009711358,0.000027729362,0.0001357845,0.000027729811,0.0012715615],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9997155,0.000027817274,0.000030380083,0.00009576621,0.00004922796,0.000081221886],"domain_scores_gemma":[0.99950147,0.0001370988,0.00013046189,0.000018598985,0.0000355444,0.00017681332],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00017542328,0.001462844,0.0008062844,0.0014479478,0.0013450448,0.00067370204,0.00059021293,0.0018641603,0.001961443],"category_scores_gemma":[0.0013198648,0.0005924722,0.00049057836,0.0007054674,0.0008341518,0.00061150896,0.0010711047,0.0014102268,0.00068091473],"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":[0.00005096225,0.0000620099,0.01884642,0.000026765218,0.000008437718,0.97262484,0.00050324877,0.00005077049,0.005660243,0.00016875922,0.00035296986,0.0016446158],"study_design_scores_gemma":[0.000020651212,0.00017293308,0.028640866,0.000017101675,0.00001415166,0.96885383,0.00021382587,0.00019555914,0.0006169604,0.00012270887,0.0011201565,0.000011209178],"about_ca_topic_score_codex":0.0026238433,"about_ca_topic_score_gemma":0.0024963336,"teacher_disagreement_score":0.0026238433,"about_ca_system_score_codex":0.0006185772,"about_ca_system_score_gemma":0.0004929063,"threshold_uncertainty_score":0.0065616965},"labels":[],"label_agreement":null},{"id":"W2898123873","doi":"10.1155/2018/7536832","title":"Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome","year":2018,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Genetic and Kidney Cyst Diseases","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":"NOSM University; University of Ottawa","funders":"","keywords":"Medicine; Malignancy; Dermatology; Pathology","score_opus":0.007429328947212836,"score_gpt":0.2296810186597888,"score_spread":0.22225168971257594,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W2898123873","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":[0.99117565,0.0020119732,0.0010538453,0.0012477005,0.00015422238,0.00005845911,0.0001178164,0.00011019632,0.0040701646],"genre_scores_gemma":[0.9981579,0.0005155208,0.0005520434,0.00021045466,0.00015076908,0.0000064710757,0.00003909088,0.000011849093,0.0003559114],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9996774,0.000035658664,0.00004164279,0.000090043955,0.00005181091,0.00010345085],"domain_scores_gemma":[0.99909496,0.00029611855,0.00014556372,0.000047183497,0.000040784136,0.0003754802],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00025628656,0.0011796812,0.00091650104,0.0019110871,0.0015701834,0.0010942067,0.0007432742,0.0033078936,0.0018111436],"category_scores_gemma":[0.0024796557,0.0007965929,0.0007015681,0.0011889345,0.0012613889,0.0011468274,0.0010436137,0.0018298962,0.00038106318],"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":[0.000020290769,0.000014518179,0.008357003,0.0000113335755,0.000005534168,0.9900149,0.00013713464,0.000039745213,0.0007718435,0.00008691226,0.00010966629,0.0004311053],"study_design_scores_gemma":[0.000008433794,0.00004427391,0.005945894,0.0000072140338,0.000011369916,0.9932708,0.000082594575,0.00009900184,0.00026043665,0.00008209254,0.00017818257,0.000009702351],"about_ca_topic_score_codex":0.0022305865,"about_ca_topic_score_gemma":0.0027054017,"teacher_disagreement_score":0.0033078936,"about_ca_system_score_codex":0.00081376545,"about_ca_system_score_gemma":0.00054807216,"threshold_uncertainty_score":0.0060588717},"labels":[],"label_agreement":null},{"id":"W29333303","doi":"10.1155/2017/3740524","title":"What Do British Columbia Teachers Consider To Be the Most Significant Aspects of Workload and Stress in Their Work? Analysis of Qualitative Data from the BCTF Worklife of Teachers Survey Series, 1: Workload and Stress. BCTF Research Report.","year":2001,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Stress and Burnout Research","field":"Psychology","cited_by":8,"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":"Workload; Work (physics); Psychology; Series (stratigraphy); Mathematics education; Computer science; Engineering","score_opus":0.25052068395593785,"score_gpt":0.4481942917373541,"score_spread":0.19767360778141624,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W29333303","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":[0.9965609,0.00017118263,0.000092361515,0.0007656341,0.000013114386,0.000070254144,0.00073702156,0.0000033394404,0.0015863265],"genre_scores_gemma":[0.99727875,0.00032507099,0.00021590453,0.00026702712,0.000006089724,0.00019061705,0.0005463966,0.0000055708188,0.0011645494],"study_design_codex":"observational","study_design_gemma":"qualitative","domain_scores_codex":[0.99863404,0.00044941032,0.00009565304,0.00008522606,0.0003504393,0.00038527965],"domain_scores_gemma":[0.994521,0.0015549817,0.0010643431,0.00012553626,0.0017037855,0.0010302935],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002510657,0.00020084075,0.00038432798,0.0016895627,0.0033566516,0.0015204636,0.0007216814,0.0004888736,0.0015875689],"category_scores_gemma":[0.007598656,0.00033192796,0.00021186011,0.002095753,0.0015535695,0.0005071551,0.0015323033,0.0010021954,0.00024100403],"study_design_candidate":"qualitative","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":[0.00011791388,0.00012786925,0.7055386,0.0002447206,0.000029469476,0.00037226165,0.2688768,0.00007604342,0.0010007961,0.00027329105,0.0060423836,0.017299918],"study_design_scores_gemma":[0.0000052492815,0.00003689319,0.60466164,0.00012750512,0.0000073660385,0.00006435097,0.3918876,0.000108899294,0.0001429055,0.00005701272,0.0028777695,0.000022674632],"about_ca_topic_score_codex":0.6587341,"about_ca_topic_score_gemma":0.8120173,"teacher_disagreement_score":0.34126592,"about_ca_system_score_codex":0.01093852,"about_ca_system_score_gemma":0.009041843,"threshold_uncertainty_score":0.6865514},"labels":[],"label_agreement":null},{"id":"W3041762841","doi":"10.1155/2020/7093409","title":"Chromosome 20p Partial <i>De Novo</i> Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies","year":2020,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Pediatric Hepatobiliary Diseases and Treatments","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":"","keywords":"Medicine; Facial dysmorphism; Gene duplication; Genetics; Biology; Phenotype; Gene","score_opus":0.021979352356405253,"score_gpt":0.25059925180986475,"score_spread":0.2286198994534595,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3041762841","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":[0.99022526,0.0024099513,0.0011435746,0.001042627,0.00012503323,0.00005437848,0.00055845367,0.00013628222,0.0043044374],"genre_scores_gemma":[0.99584323,0.0010933004,0.0010518123,0.0003442206,0.0002010352,0.000022867,0.00035839857,0.000032351632,0.001052833],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9996369,0.000028810575,0.000037812468,0.00015061235,0.00005958013,0.00008627768],"domain_scores_gemma":[0.9994729,0.00015441181,0.00017999295,0.000025200354,0.000027666512,0.00013986591],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00012973322,0.00088168134,0.00064587913,0.0009857876,0.0006593849,0.00064251124,0.0004864218,0.002143024,0.002166299],"category_scores_gemma":[0.0009858983,0.0004811032,0.00036794785,0.0006397241,0.00069552043,0.00051669666,0.0007520961,0.0008755027,0.00065651454],"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":[0.000047909165,0.000022038646,0.013681348,0.00005405948,0.000011414956,0.96822494,0.00037112148,0.00009267659,0.01296328,0.00022547759,0.00055425207,0.0037514984],"study_design_scores_gemma":[0.000007561389,0.000084250125,0.016784325,0.000010722627,0.000013175355,0.97928363,0.00007841899,0.00008692053,0.0017786679,0.0000646201,0.0017988074,0.000008927585],"about_ca_topic_score_codex":0.0008357713,"about_ca_topic_score_gemma":0.0010487984,"teacher_disagreement_score":0.002166299,"about_ca_system_score_codex":0.00036881512,"about_ca_system_score_gemma":0.00041238454,"threshold_uncertainty_score":0.007246971},"labels":[],"label_agreement":null},{"id":"W4281550919","doi":"10.1155/2022/9393042","title":"Pitfalls in Genetic Testing for Consanguineous Pediatric Populations","year":2022,"lang":"en","type":"article","venue":"Case Reports in Genetics","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":"London Health Sciences Centre; Western University","funders":"","keywords":"Consanguinity; Exome sequencing; Genetic testing; Medical genetics; Global developmental delay; Medicine; Microcephaly; Genetics; Exome; Population; Pediatrics; Biology; Gene; Mutation; Phenotype","score_opus":0.029463901863008953,"score_gpt":0.28105067715393406,"score_spread":0.2515867752909251,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4281550919","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":[0.5821007,0.091547295,0.073867336,0.17515317,0.007638845,0.0004100887,0.0007291272,0.002114129,0.06643936],"genre_scores_gemma":[0.91976017,0.015771756,0.040516537,0.017783582,0.0032011154,0.00012112394,0.00024385849,0.00027978065,0.0023221234],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.99254084,0.0035675843,0.0009903593,0.0007004045,0.0016875033,0.00051332003],"domain_scores_gemma":[0.9783894,0.015485127,0.0011601967,0.0011474392,0.0026826814,0.0011352268],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0122846905,0.0010541535,0.00095289375,0.0037233445,0.0018504595,0.002084942,0.0020795767,0.0026636804,0.001810897],"category_scores_gemma":[0.04137764,0.00046943067,0.0005735606,0.0012562393,0.0032439015,0.0028147455,0.0020532208,0.004239147,0.0011221883],"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":[0.0003412092,0.00015991757,0.29712307,0.00061748165,0.00015933035,0.3992033,0.008224732,0.0012224446,0.005878827,0.010667238,0.033913773,0.2424887],"study_design_scores_gemma":[0.000042589087,0.00023660144,0.046141915,0.0020421864,0.00018041913,0.8536177,0.00859795,0.004372548,0.0052258563,0.027004935,0.052440036,0.00009726878],"about_ca_topic_score_codex":0.005180629,"about_ca_topic_score_gemma":0.0060258373,"teacher_disagreement_score":0.0122846905,"about_ca_system_score_codex":0.00070556765,"about_ca_system_score_gemma":0.0013419783,"threshold_uncertainty_score":0.06496847},"labels":[],"label_agreement":null},{"id":"W4283687582","doi":"10.1155/2022/4791082","title":"De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome","year":2022,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Craniofacial Disorders and Treatments","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":"McMaster University Medical Centre","funders":"","keywords":"Medicine; Craniofacial; Mutation; Fibroblast growth factor receptor 1; Magnetic resonance imaging; Pediatrics; Genetic counseling; Internal medicine; Genetics; Gene; Fibroblast growth factor; Biology; Radiology","score_opus":0.011052587000986283,"score_gpt":0.26523689633330433,"score_spread":0.25418430933231806,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4283687582","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":[0.99161774,0.0010733124,0.0025017394,0.0005776353,0.00009580977,0.000047532798,0.00022731278,0.0000976621,0.0037613823],"genre_scores_gemma":[0.99791914,0.0003097283,0.0007573786,0.00013623593,0.0000739091,0.000007643283,0.00006264203,0.00001199492,0.0007213399],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9998202,0.00001679143,0.000023238652,0.000052319687,0.000041114745,0.00004639969],"domain_scores_gemma":[0.9997665,0.00008503335,0.0000581974,0.000012497632,0.000014664862,0.000063175576],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001213927,0.00071518513,0.00037651474,0.0005365599,0.0003770839,0.00032194413,0.0002698787,0.0013891323,0.0013607271],"category_scores_gemma":[0.0009790835,0.00022369431,0.00030939464,0.00025539135,0.00051387714,0.00025215957,0.0003302714,0.00057503383,0.00027339748],"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":[0.000031475833,0.000018431638,0.010665964,0.000018940558,0.000007347229,0.97667545,0.000144449,0.00008796438,0.009203901,0.00022126478,0.00031970942,0.0026050596],"study_design_scores_gemma":[0.000007727335,0.000058258523,0.009963267,0.000009058698,0.000010744018,0.9865433,0.000061221974,0.00018337743,0.002473935,0.00010208409,0.0005799502,0.000007114981],"about_ca_topic_score_codex":0.0010951093,"about_ca_topic_score_gemma":0.0011515525,"teacher_disagreement_score":0.0013891323,"about_ca_system_score_codex":0.00023787102,"about_ca_system_score_gemma":0.00021985105,"threshold_uncertainty_score":0.0045520663},"labels":[],"label_agreement":null},{"id":"W4380627434","doi":"10.1155/2023/3437706","title":"A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant","year":2023,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Prenatal Screening and Diagnostics","field":"Medicine","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 Saskatchewan","funders":"","keywords":"Medicine; Prenatal diagnosis; Presentation (obstetrics); Fetus; Genetic disorder; Hypotonia; Noonan syndrome; Intellectual disability; Genetics; Pregnancy; Pediatrics; Pathology; Biology; Psychiatry; Obstetrics","score_opus":0.01727953210676411,"score_gpt":0.27610519844873765,"score_spread":0.25882566634197357,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4380627434","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":[0.9807258,0.0016358894,0.007211033,0.002916085,0.00028210186,0.00012859567,0.00046775263,0.00028328426,0.0063494593],"genre_scores_gemma":[0.9949368,0.000661698,0.0026453927,0.00032502192,0.00018567665,0.00002680406,0.00010824765,0.00003154882,0.0010788379],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.99939084,0.00007133051,0.00004848636,0.00021997133,0.00013078915,0.00013848435],"domain_scores_gemma":[0.9986915,0.0005638736,0.00023173413,0.000082009756,0.000078034034,0.00035294518],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00023591662,0.0014340258,0.0008342452,0.0016306171,0.0011936448,0.0005286807,0.00083205686,0.0028501996,0.0023965803],"category_scores_gemma":[0.0029281292,0.00070327,0.00052008533,0.0008890497,0.0013683353,0.0007223544,0.0012052681,0.0017329545,0.00037579506],"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":[0.000024784227,0.000013919236,0.002830715,0.000015023437,0.0000045306256,0.9929628,0.00013475356,0.000075537944,0.0021849545,0.00032515012,0.00022034459,0.0012076255],"study_design_scores_gemma":[0.0000066119837,0.000037125166,0.002732248,0.000007546565,0.000006423037,0.9955585,0.000039405277,0.0001837094,0.0009847425,0.0001638319,0.00027288875,0.0000069183184],"about_ca_topic_score_codex":0.0026135189,"about_ca_topic_score_gemma":0.0020843896,"teacher_disagreement_score":0.0028501996,"about_ca_system_score_codex":0.0007257671,"about_ca_system_score_gemma":0.0006561067,"threshold_uncertainty_score":0.008017361},"labels":[],"label_agreement":null},{"id":"W4388823585","doi":"10.1155/2023/9127430","title":"A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening","year":2023,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Congenital heart defects research","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":"London Health Sciences Centre","funders":"","keywords":"Gene duplication; Copy-number variation; Medicine; SNP array; Microarray; Cell-free fetal DNA; Prenatal diagnosis; Germline; Genetics; Microdeletion syndrome; Karyotype; Chromosome; Fetus; Bioinformatics; Biology; Gene; Single-nucleotide polymorphism; Pregnancy; Genome; Genotype","score_opus":0.016001047438799463,"score_gpt":0.2873680349943746,"score_spread":0.2713669875555751,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4388823585","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":[0.99102986,0.0010849846,0.0034342515,0.0008780547,0.0000851656,0.000049975686,0.00018032153,0.000112043344,0.0031451904],"genre_scores_gemma":[0.9978326,0.00038756544,0.0011604835,0.00011129258,0.00007024405,0.000010781503,0.00004691184,0.0000075774924,0.0003726034],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9997031,0.00003069888,0.000024907507,0.00009512441,0.000078876634,0.00006718207],"domain_scores_gemma":[0.99931085,0.00033323158,0.00014137311,0.00004055393,0.00003682996,0.00013718015],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00020991373,0.0006300636,0.00038168032,0.0013243322,0.0004858185,0.00034526785,0.00046028223,0.0013678077,0.0018731313],"category_scores_gemma":[0.002604197,0.000381275,0.00023601788,0.0005160194,0.0007317457,0.00042147323,0.0006701461,0.0006971618,0.00029501054],"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":[0.00005322238,0.000012665666,0.02922391,0.0000232648,0.000006284404,0.9597963,0.00022520703,0.000085787644,0.0058789286,0.0002772184,0.00019497293,0.0042221327],"study_design_scores_gemma":[0.00000460625,0.000058327136,0.009317959,0.000008152818,0.0000097384955,0.9877325,0.00006727551,0.00020050367,0.002026642,0.00013709566,0.00043258618,0.0000046154137],"about_ca_topic_score_codex":0.001229509,"about_ca_topic_score_gemma":0.0013422986,"teacher_disagreement_score":0.0018731313,"about_ca_system_score_codex":0.00034742794,"about_ca_system_score_gemma":0.00042250365,"threshold_uncertainty_score":0.0062662363},"labels":[],"label_agreement":null},{"id":"W4391047190","doi":"10.1155/2024/8860889","title":"Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome","year":2024,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","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":"Medicine; Ataxia; Frataxin; Dilated cardiomyopathy; Cardiomyopathy; Disease; Osteopenia; Population; Internal medicine; Endocrinology; Pediatrics; Pathology; Heart failure; Osteoporosis","score_opus":0.008371084501543889,"score_gpt":0.22603250732060512,"score_spread":0.21766142281906123,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4391047190","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":[0.98299986,0.0017040011,0.0015640687,0.00053734466,0.00009589546,0.0000951993,0.00024558324,0.00019956124,0.012558611],"genre_scores_gemma":[0.99789184,0.0004962334,0.0005350371,0.000107508735,0.00004864017,0.0000065888676,0.000053685486,0.000013236335,0.00084717677],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9997993,0.000026143425,0.000015668644,0.00005629746,0.000041561212,0.000061100116],"domain_scores_gemma":[0.9995315,0.00009931167,0.00013355704,0.00003117964,0.000026326117,0.00017813711],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00012046869,0.0010145119,0.0003812454,0.0012820398,0.00042338684,0.0003788193,0.00041630614,0.0010250742,0.0019378295],"category_scores_gemma":[0.0009861859,0.0002834347,0.00031672817,0.00051607646,0.00087049184,0.00032588228,0.0006012239,0.0006459681,0.0003430275],"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":[0.000041603504,0.00002650931,0.025174702,0.000036774924,0.0000108524155,0.964353,0.00025424085,0.00011331493,0.0063308617,0.00033357908,0.00025926865,0.0030653353],"study_design_scores_gemma":[0.000013167482,0.000077373494,0.043985903,0.000022371805,0.000013440408,0.9525786,0.00014528606,0.00016267465,0.0016821482,0.00024594876,0.0010600975,0.000012998856],"about_ca_topic_score_codex":0.0027748488,"about_ca_topic_score_gemma":0.0026885327,"teacher_disagreement_score":0.0027748488,"about_ca_system_score_codex":0.0004968965,"about_ca_system_score_gemma":0.00045293025,"threshold_uncertainty_score":0.0064827204},"labels":[],"label_agreement":null},{"id":"W4391343246","doi":"10.1155/2024/6319030","title":"Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation","year":2024,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Genomic variations and chromosomal abnormalities","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":"Saskatchewan Health; Saskatchewan Health Authority; Manitoba Health","funders":"","keywords":"Chromothripsis; Chromosomal rearrangement; Genetics; Breakpoint; Biology; Chromosomal translocation; Microcephaly; Chromosome; Karyotype; Gene; DNA; DNA damage; Genome instability","score_opus":0.011323094701673593,"score_gpt":0.2490535567493821,"score_spread":0.2377304620477085,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4391343246","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":[0.99119943,0.0019626352,0.0017115725,0.0008692467,0.000096736316,0.00007072252,0.00023375175,0.0001506517,0.0037052366],"genre_scores_gemma":[0.9972186,0.0007262121,0.0007563087,0.00021396909,0.00025740894,0.000017009821,0.00010089897,0.000021397324,0.0006882244],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9995214,0.00004551815,0.000039535505,0.000165521,0.00007507523,0.00015294811],"domain_scores_gemma":[0.9990621,0.00024210491,0.00024009967,0.00006550896,0.00004220498,0.00034802363],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00019516137,0.0019265695,0.0009889412,0.0018266976,0.0011775262,0.0010856299,0.00091140636,0.002909694,0.0019283767],"category_scores_gemma":[0.0017320499,0.0007528669,0.0005968764,0.0014207717,0.0013057012,0.00086228445,0.0015675178,0.0015763209,0.00035077284],"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":[0.000014267496,0.000010599205,0.005101589,0.000020594845,0.000008555106,0.99196386,0.00011367812,0.000053634227,0.0015854278,0.00012217267,0.00018423259,0.0008214509],"study_design_scores_gemma":[0.00000560517,0.000025758074,0.0034758137,0.0000032318846,0.00000782412,0.9957268,0.00004839386,0.000071367846,0.000302048,0.00009588099,0.00023089071,0.000006383455],"about_ca_topic_score_codex":0.0012052906,"about_ca_topic_score_gemma":0.0015180461,"teacher_disagreement_score":0.002909694,"about_ca_system_score_codex":0.0005817192,"about_ca_system_score_gemma":0.0005272022,"threshold_uncertainty_score":0.00645113},"labels":[],"label_agreement":null},{"id":"W4415614960","doi":"10.1155/crig/2075063","title":"Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes","year":2025,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Telomeres, Telomerase, and Senescence","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":"College of Veterinarians of British Columbia","funders":"","keywords":"Telomere; Bone marrow; Bone marrow failure; Blood cancer; Germline; Telomerase; Biopsy; Clinical significance","score_opus":0.01664710524630696,"score_gpt":0.28171449194626924,"score_spread":0.26506738669996227,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4415614960","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":[0.9976273,0.0007487325,0.0006255566,0.00011667447,0.000011180179,0.000017734534,0.00009819262,0.00002333307,0.000731256],"genre_scores_gemma":[0.99932337,0.00015966977,0.00022396557,0.00006044081,0.00001883884,0.0000044951253,0.000056820918,0.0000037706757,0.00014866899],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.99977297,0.00003617837,0.000028614646,0.00007431693,0.000032901535,0.000054997337],"domain_scores_gemma":[0.99928445,0.00024732735,0.00020697773,0.000034267257,0.000034992237,0.0001920545],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00019501273,0.0012102079,0.0004984582,0.0012694575,0.00075627066,0.00042451455,0.0004273248,0.0010253774,0.0014806407],"category_scores_gemma":[0.00097534806,0.00032215228,0.00028822423,0.00060393644,0.0006156394,0.00031635637,0.00062496064,0.00064747134,0.00025897694],"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":[0.0005623895,0.00008662928,0.17487523,0.00009870916,0.00006257664,0.7838757,0.00064888806,0.00032792194,0.03137579,0.0004170103,0.0003027303,0.007366407],"study_design_scores_gemma":[0.00007144691,0.00040688983,0.09534877,0.00002874735,0.00007063298,0.89660084,0.00021569995,0.0005003189,0.0055233673,0.0002909802,0.00092220085,0.000020233196],"about_ca_topic_score_codex":0.0008556655,"about_ca_topic_score_gemma":0.0009222957,"teacher_disagreement_score":0.0014806407,"about_ca_system_score_codex":0.00022483229,"about_ca_system_score_gemma":0.00016350101,"threshold_uncertainty_score":0.0049532056},"labels":[],"label_agreement":null}]}