{"meta":{"query_hash":"93a2031b4512","filters":{"venue":"Human Genetics and Genomics Advances"},"cohort_total":63,"direct_labels_cover":0,"predictions_cover":63,"exported":63,"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/93a2031b4512","api":"https://metacan.xera.ac/api/v1/cohort?venue=Human+Genetics+and+Genomics+Advances"},"results":[{"id":"W3080906952","doi":"10.1016/j.xhgg.2020.100010","title":"Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis","year":2020,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Iron 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":"University of Toronto; Memorial University of Newfoundland","funders":"National Heart, Lung, and Blood Institute; National Cancer Institute; National Institutes of Health; Cancer Research UK; National Human Genome Research Institute; World Health Organization; Centre International de Recherche sur le Cancer; Johns Hopkins University","keywords":"Hereditary hemochromatosis; Medicine; Hemochromatosis; Odds ratio; Colorectal cancer; Internal medicine; Genotype; Penetrance; Allele; Confidence interval; Cancer; Epidemiology; Population; Gastroenterology; Oncology; Genetics; Biology; Gene; Phenotype","score_opus":0.024835974921611426,"score_gpt":0.2744212281653014,"score_spread":0.24958525324368996,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3080906952","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":[0.99101007,0.00035424842,0.0004857271,0.00007834608,0.0000128571155,0.000012245411,0.007151202,0.00002163156,0.0008736624],"genre_scores_gemma":[0.9943961,0.00007944204,0.000230278,0.00002939552,0.000007701854,0.00001136724,0.004966158,0.000008210059,0.00027130998],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9980028,0.0005335912,0.00025207544,0.00076389365,0.00023690413,0.0002107057],"domain_scores_gemma":[0.99486935,0.0012713223,0.001684246,0.0015836264,0.0002924808,0.00029898135],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0014129075,0.0002723363,0.00063244783,0.00067650405,0.00043382234,0.0008905003,0.00046903596,0.00059307023,0.0024339687],"category_scores_gemma":[0.006699892,0.00035401358,0.00090051926,0.0011738412,0.0003132286,0.00038170288,0.0004937057,0.0004914604,0.00035980213],"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":[0.0007938996,0.000024116676,0.9944969,0.000048483016,0.00064350374,0.00013109228,0.000051304127,0.00016033999,0.0013017022,0.00005001154,0.00054792967,0.0017506956],"study_design_scores_gemma":[0.000028728664,0.000047473597,0.9978459,0.000014813148,0.00018083717,0.0003535107,0.000034424625,0.0003278757,0.00026418717,0.00005465512,0.00084214273,0.0000054557086],"about_ca_topic_score_codex":0.0047949688,"about_ca_topic_score_gemma":0.007357863,"teacher_disagreement_score":0.0047949688,"about_ca_system_score_codex":0.00023483559,"about_ca_system_score_gemma":0.00030387918,"threshold_uncertainty_score":0.009534121},"labels":[],"label_agreement":null},{"id":"W3096966615","doi":"10.1016/j.xhgg.2020.100013","title":"Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits","year":2020,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","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":"University of Manitoba","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Erasmus Universitair Medisch Centrum Rotterdam; University of California, Irvine; School of Medicine, University of Alabama at Birmingham; National Institutes of Health; Amsterdam Neuroscience; Kuopion Yliopistollinen Sairaala; Háskóli Íslands; Tampereen Yliopisto; Leids Universitair Medisch Centrum; Universiteit Leiden; Vrije Universiteit Amsterdam; University of Oxford; Kaiser Permanente Washington Health Research Institute; Capital Medical University; Washington University in St. Louis; Deutsches Zentrum für Herz-Kreislaufforschung; University of Washington; Helsingin Yliopisto; National University of Singapore; Itä-Suomen Yliopisto; Kaiser Permanente; University of Minnesota; Case Western Reserve University; Jackson State University; University of Southern California","keywords":"Psychosocial; Genome-wide association study; Blood pressure; Anxiety; Gene; Genetics; Biology; Pulse pressure; Genetic association; Psychology; Clinical psychology; Psychiatry; Single-nucleotide polymorphism; Endocrinology; Genotype","score_opus":0.04175990629418738,"score_gpt":0.3240140068622607,"score_spread":0.2822541005680733,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3096966615","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":[0.96695596,0.020600663,0.009716962,0.0005116882,0.0001345985,0.000044079872,0.0010999598,0.00016592299,0.00077010394],"genre_scores_gemma":[0.99497014,0.0015463121,0.0026299064,0.00008553121,0.000048481757,0.000029390507,0.00042241908,0.000028706501,0.00023916713],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99684817,0.0015532428,0.00024823888,0.0008714889,0.00023168503,0.00024708247],"domain_scores_gemma":[0.99672973,0.0016132327,0.0005029268,0.0007650092,0.00016732051,0.0002217106],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004876144,0.0012423357,0.0016841823,0.0016605826,0.0009324387,0.0015496543,0.00088499073,0.0012647597,0.0021916493],"category_scores_gemma":[0.0051672114,0.000679283,0.0065715425,0.0032567298,0.0004311849,0.0005540454,0.0011422456,0.0013678559,0.0001917468],"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":[0.0037733235,0.00013353558,0.86341894,0.0005123308,0.09723391,0.0010714461,0.0002156836,0.0016674106,0.012028133,0.0005008958,0.00067007,0.018774394],"study_design_scores_gemma":[0.00035975405,0.00051366986,0.9271052,0.000109148445,0.06147204,0.0007754076,0.00012806781,0.0051619997,0.0018710755,0.0009867396,0.0014795519,0.000037348524],"about_ca_topic_score_codex":0.004680618,"about_ca_topic_score_gemma":0.007738255,"teacher_disagreement_score":0.004876144,"about_ca_system_score_codex":0.00031988265,"about_ca_system_score_gemma":0.0006270174,"threshold_uncertainty_score":0.02578789},"labels":[],"label_agreement":null},{"id":"W3107502971","doi":"10.1016/j.xhgg.2020.100015","title":"Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome","year":2020,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Histone Deacetylase Inhibitors Research","field":"Biochemistry, Genetics and Molecular Biology","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":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; McGill University Health Centre","funders":"Wellcome Trust","keywords":"Missense mutation; Intellectual disability; Genetics; Biology; Histone; Chromatin; Gene; Allele; Binding site; Loss function; Microcephaly; HDAC4; Mutation; Histone deacetylase; Phenotype","score_opus":0.039646142496672296,"score_gpt":0.29660328779022643,"score_spread":0.2569571452935541,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3107502971","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":[0.99678254,0.00022213737,0.0015124187,0.00010692486,0.00003635403,0.000035572157,0.00019671237,0.00007557267,0.0010316732],"genre_scores_gemma":[0.9977957,0.000110810935,0.0011452384,0.00008565901,0.00004404796,0.000011608772,0.00018505062,0.000016039612,0.00060589606],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.9997074,0.000027964938,0.00003618428,0.0000812874,0.00009859593,0.00004848507],"domain_scores_gemma":[0.9996259,0.000105470914,0.00010916349,0.000020962187,0.00002232469,0.00011622144],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00014105435,0.0015946894,0.00052092946,0.0011007435,0.0005572423,0.00029618267,0.00072695606,0.0008693438,0.002017147],"category_scores_gemma":[0.00064229633,0.00025870648,0.0006143891,0.00047773612,0.0008565415,0.00015536441,0.00074663106,0.00053183624,0.000334696],"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":[0.0008199386,0.0004188735,0.094007164,0.00021277997,0.00059269037,0.459589,0.0009755048,0.0009357614,0.41393492,0.0015179516,0.0012933116,0.02570215],"study_design_scores_gemma":[0.00033666115,0.0010519653,0.33983585,0.000056885357,0.0005234169,0.5978069,0.000431883,0.0025010495,0.05096358,0.00070909,0.0056921965,0.0000904263],"about_ca_topic_score_codex":0.0011535008,"about_ca_topic_score_gemma":0.0013431093,"teacher_disagreement_score":0.002017147,"about_ca_system_score_codex":0.0003306485,"about_ca_system_score_gemma":0.00027609,"threshold_uncertainty_score":0.0067480206},"labels":[],"label_agreement":null},{"id":"W3159323407","doi":"10.1016/j.xhgg.2021.100034","title":"Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease","year":2021,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"RNA regulation and disease","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":"Centre Hospitalier Universitaire Sainte-Justine; McGill University; Université de Montréal; Montreal Clinical Research Institute; McGill University Health Centre","funders":"Canadian Institutes of Health Research; Institut de Recherche Clinique De Montréal; Fonds de Recherche du Québec - Santé; Compute Canada","keywords":"Zebrafish; Biology; Leukodystrophy; Exome sequencing; Gene knockdown; Oligodendrocyte; Disease; RNA splicing; Genetics; Myelin; Neurodegeneration; Neuroscience; Gene; Central nervous system; Mutation; Medicine; RNA; Pathology","score_opus":0.015569108651045839,"score_gpt":0.25781332215092284,"score_spread":0.24224421349987701,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3159323407","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":[0.9915559,0.0009473233,0.0043683513,0.00021992919,0.000055745393,0.000023212,0.000933026,0.00016981963,0.0017266186],"genre_scores_gemma":[0.99198663,0.00037013125,0.002805702,0.0001107288,0.0000058529404,0.000023962384,0.0006415358,0.000057801553,0.003997727],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.999851,0.00001582653,0.000016558404,0.00003408205,0.00006281221,0.000019736655],"domain_scores_gemma":[0.9998785,0.000021347434,0.00005285012,0.000010233804,0.000010755867,0.000026396032],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00011722343,0.00051143044,0.00016661927,0.0004959386,0.00025628216,0.00019130157,0.0002581073,0.0006301017,0.002108346],"category_scores_gemma":[0.00021051019,0.00016367463,0.00031721286,0.00016306649,0.00040346655,0.000139234,0.00042148287,0.0004453254,0.00055358355],"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":[0.00005611918,0.000009848513,0.00093532284,0.000031275355,0.000017141601,0.0006987516,0.000021702019,0.00009632211,0.99648017,0.00025049737,0.000109302564,0.0012935619],"study_design_scores_gemma":[0.000033255637,0.0002705038,0.056417987,0.00003754504,0.000111658825,0.004626971,0.00013984361,0.0034108493,0.925845,0.0005558437,0.008517127,0.00003329642],"about_ca_topic_score_codex":0.002850564,"about_ca_topic_score_gemma":0.00654837,"teacher_disagreement_score":0.002850564,"about_ca_system_score_codex":0.00049181655,"about_ca_system_score_gemma":0.00029687697,"threshold_uncertainty_score":0.007053077},"labels":[],"label_agreement":null},{"id":"W3166983059","doi":"10.1016/j.xhgg.2021.100041","title":"Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals","year":2021,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","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":"Sinai Health System; Université Laval","funders":"European Society for Medical Oncology; National Institute of Environmental Health Sciences; Ipsen; National Institute for Health and Care Research; National Cancer Institute; National Institutes of Health; Cancer Research UK; Celgene; American Society of Clinical Oncology; World Health Organization; Eli Lilly and Company","keywords":"Cancer; Prostate cancer; Oncology; Ovarian cancer; Genome-wide association study; Breast cancer; Pancreatic cancer; Colorectal cancer; Biology; Carcinogenesis; Internal medicine; Medicine; Gene; Genetics; Single-nucleotide polymorphism; Genotype","score_opus":0.02257330647258867,"score_gpt":0.30006601097969,"score_spread":0.27749270450710134,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3166983059","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":[0.91646546,0.0038157913,0.0736979,0.00026274114,0.000081628634,0.000128244,0.0033489626,0.00074196706,0.0014572849],"genre_scores_gemma":[0.98431695,0.00037834834,0.012193322,0.00021854145,0.000021887277,0.00008289442,0.0022703153,0.00014822397,0.0003693274],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9953982,0.0013415926,0.00032831333,0.0021296619,0.00044063255,0.000361612],"domain_scores_gemma":[0.9912622,0.0058195814,0.00074022193,0.0015151057,0.00040305892,0.00025978012],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0075642182,0.0014474143,0.0017934078,0.00234344,0.0012313407,0.0015345197,0.0012638818,0.00082720886,0.004189411],"category_scores_gemma":[0.0100309625,0.0008094786,0.005716156,0.0024626427,0.00066701655,0.00046619878,0.0021303075,0.0012936163,0.0005250193],"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":[0.0019122886,0.00015029113,0.82460505,0.0006670264,0.025082394,0.0046964437,0.0007881089,0.012060941,0.07094724,0.0016471257,0.0015804166,0.05586276],"study_design_scores_gemma":[0.00037136857,0.0006067784,0.91810673,0.00013035815,0.018542403,0.0035075203,0.0003195856,0.025740834,0.018147325,0.0040760944,0.010332256,0.00011877251],"about_ca_topic_score_codex":0.0076480773,"about_ca_topic_score_gemma":0.01589813,"teacher_disagreement_score":0.0076480773,"about_ca_system_score_codex":0.00037605452,"about_ca_system_score_gemma":0.0009630421,"threshold_uncertainty_score":0.040003896},"labels":[],"label_agreement":null},{"id":"W3167899697","doi":"10.1016/j.xhgg.2021.100042","title":"Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer","year":2021,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"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 Laval; University Health Network; Foothills Medical Centre; Princess Margaret Cancer Centre; Centre hospitalier universitaire de Québec; University of Calgary","funders":"National Institute of Neurological Disorders and Stroke; National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; National Institute on Drug Abuse; National Institute of Mental Health; National Heart, Lung, and Blood Institute; NIH Office of the Director; Cancer Research UK; Horizon 2020 Framework Programme; European Commission; Ovarian Cancer Research Fund; National Institutes of Health; Common Fund; Ministère de l'Économie, de la Science et de l'Innovation - Québec; Government of Canada; National Cancer Institute; Seventh Framework Programme; Génome Québec; Canadian Institutes of Health Research; Genome Canada","keywords":"Breast cancer; Ovarian cancer; Candidate gene; Genome-wide association study; Biology; Transcriptome; Genetic association; Cancer; Genetics; Gene; Genotype; Single-nucleotide polymorphism; Gene expression","score_opus":0.014015758640390815,"score_gpt":0.2945173859333368,"score_spread":0.280501627292946,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3167899697","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":[0.9003793,0.00036549714,0.09650615,0.00018538117,0.000016195321,0.000035819117,0.0013807854,0.00044771482,0.00068317796],"genre_scores_gemma":[0.9786204,0.00011254615,0.018539527,0.00009870973,0.000011431669,0.000042903303,0.0022118348,0.00007143941,0.00029117457],"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","domain_scores_codex":[0.9987594,0.0005219198,0.000066734545,0.00039517705,0.00013928265,0.000117429445],"domain_scores_gemma":[0.9980983,0.0010465531,0.00026819226,0.00042130103,0.00009100319,0.000074635274],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0036675348,0.00039663567,0.00080543867,0.00067714066,0.00056355365,0.0007631261,0.0006328039,0.00040060133,0.001506563],"category_scores_gemma":[0.0047212676,0.0003909438,0.0015418204,0.0008251864,0.00038209773,0.00029153956,0.00085756846,0.00087516377,0.00028633],"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":[0.0018162202,0.00017919912,0.78896713,0.00022161845,0.0022415547,0.0012745291,0.0004082034,0.03959105,0.10197618,0.0019495405,0.0015005283,0.059874263],"study_design_scores_gemma":[0.00028362626,0.00038684494,0.686836,0.00004207149,0.0018741912,0.0016063848,0.000396841,0.27949986,0.018220883,0.00768052,0.0031107604,0.0000620595],"about_ca_topic_score_codex":0.001987219,"about_ca_topic_score_gemma":0.004433338,"teacher_disagreement_score":0.0036675348,"about_ca_system_score_codex":0.00022713453,"about_ca_system_score_gemma":0.00075978925,"threshold_uncertainty_score":0.019396007},"labels":[],"label_agreement":null},{"id":"W3170317933","doi":"10.1016/j.xhgg.2021.100037","title":"Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease","year":2021,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Biomedical Imaging and Bioengineering; National Institutes of Health; Heart and Stroke Foundation of Canada; National Heart, Lung, and Blood Institute; Chinese University of Hong Kong","keywords":"Bicuspid aortic valve; Internal medicine; Ventricular outflow tract obstruction; Odds ratio; Compound heterozygosity; Hypoplastic left heart syndrome; Heart disease; Cardiology; Genetics; Medicine; Aorta; Biology; Mitral valve; Phenotype; Gene","score_opus":0.024420011876294497,"score_gpt":0.31420323447176746,"score_spread":0.28978322259547296,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3170317933","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":[0.997186,0.0008076747,0.0013929819,0.000039699295,0.000010288404,0.0000119993865,0.0001574896,0.000025448093,0.0003684212],"genre_scores_gemma":[0.9984744,0.00025744174,0.00085450464,0.000019957508,0.000018223982,0.000005402536,0.00013519033,0.00001086387,0.00022402791],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.999271,0.00016492294,0.00006967351,0.00025411198,0.00018484537,0.000055386274],"domain_scores_gemma":[0.99904424,0.00042282243,0.00031347957,0.000059072525,0.00004550063,0.00011484295],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00029081138,0.0008372435,0.0005079996,0.0014766137,0.00030398287,0.00038957264,0.00037110635,0.00056243455,0.0019696532],"category_scores_gemma":[0.0012908077,0.00024391632,0.0003716217,0.0007332339,0.00054897845,0.00015849363,0.00057256897,0.00044586952,0.00015956907],"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":[0.001903111,0.0001642042,0.8038044,0.00013374047,0.0008220953,0.02249221,0.00051696185,0.0006669999,0.14362359,0.0013467505,0.00041113098,0.024114773],"study_design_scores_gemma":[0.00009910249,0.00035389993,0.9368067,0.00003905034,0.00033724698,0.05123893,0.00021070288,0.0014724878,0.0076122074,0.0006206912,0.0011823854,0.00002651421],"about_ca_topic_score_codex":0.001415895,"about_ca_topic_score_gemma":0.0013493232,"teacher_disagreement_score":0.0019696532,"about_ca_system_score_codex":0.00015380536,"about_ca_system_score_gemma":0.00013416249,"threshold_uncertainty_score":0.0065891743},"labels":[],"label_agreement":null},{"id":"W3207046163","doi":"10.1016/j.xhgg.2021.100063","title":"From GWAS variant to function: A study of ∼148,000 variants for blood cell traits","year":2021,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","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":"Université de Montréal; Montreal Heart Institute","funders":"National Center for Advancing Translational Sciences; National Institute of General Medical Sciences; National Institute on Drug Abuse; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institutes of Health; New York Stem Cell Foundation","keywords":"Genome-wide association study; Computational biology; Phenome; Biology; Epigenomics; Genetic association; Gene; Genome; Quantitative trait locus; Function (biology); Chromatin; Genetics; Single-nucleotide polymorphism; DNA methylation; Gene expression; Genotype","score_opus":0.015330028821954889,"score_gpt":0.26736785448816486,"score_spread":0.25203782566620997,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3207046163","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":[0.97801334,0.0034502218,0.011118361,0.00030288435,0.000050571074,0.00004201779,0.0056537483,0.0003521534,0.0010166871],"genre_scores_gemma":[0.97602004,0.00090827286,0.013448307,0.00038253466,0.000055172,0.000066915185,0.008142591,0.00020362185,0.0007727118],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99856275,0.00035369044,0.00011083649,0.0006545639,0.00022659558,0.00009152905],"domain_scores_gemma":[0.9965959,0.0019402591,0.00039089253,0.00061063154,0.0001952984,0.0002669639],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0020965503,0.0005727035,0.0006830999,0.0019194146,0.00071912614,0.0011267891,0.0005267755,0.00071226206,0.002543406],"category_scores_gemma":[0.0062506585,0.00031145505,0.00091353897,0.0022365982,0.00041626248,0.0003262544,0.00090653426,0.00075595325,0.0007112334],"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":[0.001843429,0.00022122782,0.7872236,0.0005164222,0.0020364337,0.0032532762,0.00084945327,0.0017240903,0.07457402,0.0024929906,0.008029223,0.11723579],"study_design_scores_gemma":[0.00027176796,0.00061581586,0.9389553,0.00012354745,0.001735879,0.0077875094,0.00032278354,0.0066788383,0.012624068,0.0048658843,0.025917696,0.00010091556],"about_ca_topic_score_codex":0.001391028,"about_ca_topic_score_gemma":0.002130344,"teacher_disagreement_score":0.002543406,"about_ca_system_score_codex":0.00021219367,"about_ca_system_score_gemma":0.0004028524,"threshold_uncertainty_score":0.011087716},"labels":[],"label_agreement":null},{"id":"W3215295275","doi":"10.1016/j.xhgg.2021.100070","title":"Genetic factors associated with prostate cancer conversion from active surveillance to treatment","year":2021,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Prostate Cancer Treatment and Research","field":"Medicine","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":"Sunnybrook Health Science Centre; Princess Margaret Cancer Centre; University of British Columbia; University Health Network","funders":"National Center for Advancing Translational Sciences; U.S. Department of Defense; National Heart, Lung, and Blood Institute; NorthShore University HealthSystem; National Cancer Institute; National Institutes of Health; Vanderbilt University","keywords":"Prostate cancer; Medicine; Cancer; Oncology; Internal medicine; Environmental health","score_opus":0.03102467114616855,"score_gpt":0.31071044049039626,"score_spread":0.27968576934422773,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W3215295275","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":[0.9980945,0.0006451108,0.0002381912,0.00017885503,0.000019114987,0.0000068996037,0.00031273445,0.000013852468,0.0004906504],"genre_scores_gemma":[0.9994874,0.000094213705,0.00010442778,0.0000426814,0.000010821445,0.0000022555882,0.000155272,0.0000037787795,0.00009898874],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9995315,0.00014428214,0.00004406668,0.00015334136,0.000072974704,0.00005389697],"domain_scores_gemma":[0.9987412,0.00034571683,0.00051182834,0.00012283504,0.00007739357,0.00020108622],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003502554,0.0002014616,0.00021779056,0.00041667777,0.00044263285,0.00069639855,0.00029252964,0.00043132756,0.0015289155],"category_scores_gemma":[0.0024346483,0.00013961503,0.0004984458,0.0009873789,0.00036438942,0.00015795954,0.00024137912,0.0007686543,0.00010351755],"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":[0.0005927921,0.00007627453,0.9877251,0.00003368522,0.0003778044,0.00064570364,0.00015880338,0.00029918726,0.0041279793,0.000209475,0.0004889982,0.0052642557],"study_design_scores_gemma":[0.000021291266,0.00007163101,0.99761295,0.000009911068,0.00011647724,0.00090281304,0.00006822164,0.00037001687,0.00019834338,0.00019828982,0.00042101662,0.000009108085],"about_ca_topic_score_codex":0.0043039303,"about_ca_topic_score_gemma":0.0046787863,"teacher_disagreement_score":0.0043039303,"about_ca_system_score_codex":0.00021352731,"about_ca_system_score_gemma":0.00023028531,"threshold_uncertainty_score":0.008557737},"labels":[],"label_agreement":null},{"id":"W4200259328","doi":"10.1016/j.xhgg.2021.100075","title":"Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders","year":2021,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":157,"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; Children’s Health Research Institute; Université de Montréal; Manitoba Health; BC Children's Hospital; Children's & Women's Health Centre of British Columbia; University of British Columbia; Western University; Newborn Screening Ontario; Centre Hospitalier Universitaire Sainte-Justine; London Health Sciences Centre","funders":"Children’s Hospital of Wisconsin Research Institute; Ministero della Salute; Murdoch Children's Research Institute; Royal Children's Hospital Foundation; Children's Hospital Foundation; State Government of Victoria; London Health Sciences Centre; Ministero dell’Istruzione, dell’Università e della Ricerca; Genome Canada","keywords":"Epigenetics; DNA methylation; Mendelian inheritance; Biology; OMIM : Online Mendelian Inheritance in Man; Genetics; Computational biology; Disease; Gene; Phenotype; Copy-number variation; Bioinformatics; Medicine; Genome; Gene expression; Pathology","score_opus":0.009262011198729759,"score_gpt":0.2594213261908568,"score_spread":0.250159314992127,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4200259328","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":[0.9438208,0.0013202314,0.05218597,0.00027283124,0.000010384873,0.000034527653,0.00051403657,0.0003644832,0.0014768379],"genre_scores_gemma":[0.98831975,0.00021894711,0.011048686,0.000036948662,0.000008581073,0.0000066101043,0.0001902407,0.00002481333,0.00014536573],"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.99951756,0.0001267925,0.000043536027,0.00017023616,0.0001001352,0.000041856496],"domain_scores_gemma":[0.99849916,0.00081931,0.00038321904,0.00013227356,0.00009866327,0.00006727583],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001229033,0.0005197847,0.0004128532,0.0013493674,0.00024567638,0.00075285544,0.00028988463,0.00043451265,0.0011384635],"category_scores_gemma":[0.0036847324,0.00016825635,0.00043962096,0.0005242949,0.00049925136,0.0005340709,0.00093983236,0.0006875176,0.000155313],"study_design_candidate":"bench_or_experimental","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":[0.0010543293,0.000067428125,0.6756061,0.00017818357,0.00031739345,0.0016179001,0.00049192103,0.020820443,0.1516406,0.0051319543,0.00065140123,0.14242242],"study_design_scores_gemma":[0.00007837197,0.00046126475,0.5314006,0.00012424045,0.00045589605,0.012471501,0.00060286844,0.2946996,0.115479305,0.03740828,0.006705541,0.00011252377],"about_ca_topic_score_codex":0.001094054,"about_ca_topic_score_gemma":0.0014241908,"teacher_disagreement_score":0.0013493674,"about_ca_system_score_codex":0.00040853373,"about_ca_system_score_gemma":0.00023563742,"threshold_uncertainty_score":0.006499827},"labels":[],"label_agreement":null},{"id":"W4200340119","doi":"10.1016/j.xhgg.2021.100082","title":"Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans","year":2021,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genomic variations and chromosomal abnormalities","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":"Alberta Children's Hospital; University of Calgary","funders":"National Institute of Dental and Craniofacial Research; National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health; Massachusetts Institute of Technology; Boston Children's Hospital","keywords":"Copy-number variation; Genetics; Single-nucleotide polymorphism; Genome-wide association study; Biology; SNP; Genetic association; Bantu languages; Structural variation; SNP array; Genetic variation; Genome; Gene; Genotype","score_opus":0.005762430448366171,"score_gpt":0.2341172880231157,"score_spread":0.22835485757474955,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4200340119","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":[0.999597,0.00005561048,0.000065972104,0.00001487465,0.0000016213347,0.0000074203326,0.00010628066,0.0000027729288,0.00014839986],"genre_scores_gemma":[0.9994912,0.000057827183,0.0001290846,0.000015667014,0.000005298169,0.000011669458,0.00015107948,0.0000032361804,0.00013497588],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99966896,0.00006350344,0.00002264384,0.0001251734,0.00006070501,0.00005909131],"domain_scores_gemma":[0.9995908,0.00011549134,0.00011176344,0.000066121094,0.000037362304,0.00007833989],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00042315904,0.00039339648,0.0003561618,0.0012407268,0.001231458,0.00044731714,0.00036399584,0.00048688686,0.0023191762],"category_scores_gemma":[0.0014886588,0.0003644754,0.0003373496,0.0010885166,0.0005549211,0.0002987854,0.00050791417,0.0004614334,0.00017792148],"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":[0.0003539614,0.000066024004,0.98548174,0.000019496434,0.00012171941,0.0012046677,0.00083398866,0.00006932393,0.009059442,0.00011008424,0.00014803327,0.0025315476],"study_design_scores_gemma":[0.000010437618,0.000059062964,0.9981464,0.0000042171064,0.000033639837,0.0010265836,0.00024805515,0.00013752785,0.00014559705,0.000029527975,0.00015522465,0.0000036840247],"about_ca_topic_score_codex":0.009483769,"about_ca_topic_score_gemma":0.008390164,"teacher_disagreement_score":0.009483769,"about_ca_system_score_codex":0.00025090436,"about_ca_system_score_gemma":0.00018178069,"threshold_uncertainty_score":0.018857121},"labels":[],"label_agreement":null},{"id":"W4207038128","doi":"10.1016/j.xhgg.2022.100093","title":"First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Esophageal and GI Pathology","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":"Queen's University","funders":"Heinz Nixdorf Stiftung; Deutsche Krebshilfe; Shire; Deutsche Forschungsgemeinschaft; Stichting Wetenschappelijk Onderzoek Oogziekenhuis; Else Kröner-Fresenius-Stiftung; Klarman Family Foundation","keywords":"Genome-wide association study; Biology; Genetics; Single-nucleotide polymorphism; Tracheoesophageal fistula; Odds ratio; Genetic architecture; Atresia; Candidate gene; Heritability; Gene; Genotype; Quantitative trait locus; Medicine; Internal medicine; Anatomy","score_opus":0.011148524448350785,"score_gpt":0.2491013769207377,"score_spread":0.2379528524723869,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4207038128","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":[0.99618393,0.00094470946,0.0013785166,0.00011758303,0.000021130953,0.000016272894,0.0006672049,0.000026526963,0.00064409943],"genre_scores_gemma":[0.997695,0.00027380005,0.00095437735,0.00006324527,0.0000123801,0.000011894375,0.0005299978,0.000010098765,0.000449101],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99961436,0.00008661473,0.000030160194,0.00014204618,0.000069566624,0.000057197707],"domain_scores_gemma":[0.99942553,0.0001528783,0.00013496946,0.00008317226,0.000074505515,0.00012896032],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00054559397,0.00044570613,0.0004060231,0.00048993813,0.0005230311,0.000373768,0.00024622932,0.0005368118,0.001992538],"category_scores_gemma":[0.0014764139,0.00018732529,0.00093060645,0.0006435387,0.00034344487,0.00013235144,0.00041938777,0.0005710647,0.0001523985],"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":[0.0012493387,0.000100475154,0.9078059,0.00010376319,0.001292647,0.001932334,0.00024836225,0.000241146,0.07375978,0.00026180397,0.0005832463,0.012421061],"study_design_scores_gemma":[0.000053982196,0.00023181157,0.9911856,0.00001618365,0.0005240054,0.0012712971,0.000067539484,0.00038450616,0.004674052,0.00009764757,0.0014818033,0.000011532098],"about_ca_topic_score_codex":0.0054733143,"about_ca_topic_score_gemma":0.009721399,"teacher_disagreement_score":0.0054733143,"about_ca_system_score_codex":0.00026394753,"about_ca_system_score_gemma":0.00034056243,"threshold_uncertainty_score":0.010882914},"labels":[],"label_agreement":null},{"id":"W4221066745","doi":"10.1016/j.xhgg.2022.100091","title":"Stability of polygenic scores across discovery genome-wide association studies","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","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":"Université de Montréal","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Children's Hospital of Philadelphia; National Institute on Drug Abuse; National Institute of Mental Health; University of Pennsylvania; National Institutes of Health","keywords":"Genome-wide association study; Biobank; Population; Genetic association; Trait; Percentile; Biology; Genetics; Medicine; Demography; Single-nucleotide polymorphism; Statistics; Genotype; Mathematics; Computer science","score_opus":0.022469424772782645,"score_gpt":0.3072403538678668,"score_spread":0.28477092909508417,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4221066745","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":[0.947832,0.004098904,0.042547934,0.0004936968,0.0001294258,0.00007406006,0.0023151983,0.0003849996,0.0021237857],"genre_scores_gemma":[0.99312496,0.00023941371,0.004187932,0.00015504942,0.000060558676,0.000054699503,0.0019328665,0.000071190116,0.00017328284],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.97168297,0.013176647,0.0024136761,0.008977799,0.002783614,0.00096531387],"domain_scores_gemma":[0.8800943,0.08184902,0.0125038605,0.01856852,0.0053247046,0.0016597338],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.032420397,0.0006247581,0.0012200588,0.0048433635,0.0012831687,0.0028773067,0.0011488152,0.00089477334,0.0016160312],"category_scores_gemma":[0.09503638,0.0004985717,0.0017084171,0.006483135,0.0016979374,0.0015974628,0.0026367425,0.0015570638,0.0003386548],"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":[0.00061514124,0.000024363622,0.9646659,0.00012841857,0.005876269,0.0004002854,0.0006793109,0.0025623103,0.0035156417,0.0014891808,0.000735729,0.019307533],"study_design_scores_gemma":[0.000041668547,0.0001569669,0.9848477,0.000046332374,0.0010383182,0.0006344071,0.00023902496,0.005473398,0.0008157781,0.0050382395,0.0016188477,0.000049278715],"about_ca_topic_score_codex":0.0023801494,"about_ca_topic_score_gemma":0.0022682694,"teacher_disagreement_score":0.9675796,"about_ca_system_score_codex":0.0005852738,"about_ca_system_score_gemma":0.0005981432,"threshold_uncertainty_score":0.17145747},"labels":[],"label_agreement":null},{"id":"W4224035361","doi":"10.1016/j.xhgg.2022.100107","title":"Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Tracheal and airway disorders","field":"Medicine","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":"Centre Hospitalier Universitaire Sainte-Justine","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of General Medical Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Biology; Genetics; Phenotype; Foregut; Gene; Bioinformatics; Anatomy","score_opus":0.008304521330814055,"score_gpt":0.240661855749508,"score_spread":0.23235733441869394,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4224035361","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":[0.99543375,0.00020540689,0.003750332,0.000034086188,0.0000061737032,0.000016635742,0.00034996282,0.000030371113,0.00017328496],"genre_scores_gemma":[0.9953869,0.00013301973,0.003813841,0.000014390991,0.0000032613855,0.000012747925,0.00047652534,0.000011192122,0.00014820161],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99971956,0.00010021363,0.00002400576,0.00008315025,0.000043683005,0.000029359393],"domain_scores_gemma":[0.9994048,0.00036977304,0.0000967443,0.000033259406,0.00003031057,0.00006513255],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006581283,0.00039084893,0.0004788721,0.00065959984,0.0002742036,0.00042778577,0.00038810272,0.00043843494,0.0014321725],"category_scores_gemma":[0.0019212929,0.00014906019,0.0009714127,0.00062361645,0.00022500557,0.00013371716,0.00032343526,0.0002797449,0.00017226118],"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":[0.0017228542,0.00019282027,0.8146963,0.00020448047,0.00085203204,0.006638006,0.00022038475,0.026704008,0.12073496,0.0022310417,0.00045184515,0.025351303],"study_design_scores_gemma":[0.00025315184,0.00055173604,0.79137963,0.00007635405,0.0009118617,0.007200341,0.00030284672,0.16893634,0.026011966,0.0019707393,0.0023481904,0.00005687999],"about_ca_topic_score_codex":0.0025623061,"about_ca_topic_score_gemma":0.001999434,"teacher_disagreement_score":0.0025623061,"about_ca_system_score_codex":0.00020250637,"about_ca_system_score_gemma":0.0005596491,"threshold_uncertainty_score":0.0050947666},"labels":[],"label_agreement":null},{"id":"W4224273409","doi":"10.1016/j.xhgg.2022.100108","title":"Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"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; Women's Health Research Institute; University of British Columbia","funders":"Provincial Health Services Authority; Strong; BC Children's Hospital; Genome British Columbia; BC Children’s Hospital Foundation","keywords":"Medical genetics; Exome sequencing; Context (archaeology); Reinterpretation; Genetic counseling; Genetic testing; Medical diagnosis; Disease; Genomics; Biology; Multidisciplinary approach; Genetics; Genome; Family medicine; Medicine; Mutation; Pathology; Gene","score_opus":0.022183353971539123,"score_gpt":0.2970020050511915,"score_spread":0.27481865107965237,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4224273409","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":[0.99410796,0.0015501481,0.0011230515,0.00055294216,0.000028251341,0.000049049133,0.0010150203,0.000014551409,0.0015591052],"genre_scores_gemma":[0.99706036,0.00057527627,0.0009063461,0.0002263345,0.000037671223,0.00004288777,0.000826218,0.000010765005,0.00031400847],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9965018,0.002190518,0.00023840947,0.00045000503,0.00042756714,0.00019168142],"domain_scores_gemma":[0.9959376,0.0014027185,0.0013611319,0.0004538612,0.00041999968,0.0004245972],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0036205654,0.00031978477,0.0003217339,0.0017414737,0.0005539593,0.0008429078,0.00028611688,0.00077213085,0.0011084641],"category_scores_gemma":[0.0089894505,0.00021807295,0.00036744835,0.0016985647,0.00038303246,0.0003499038,0.00096302194,0.0004709225,0.00015794644],"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":[0.00018228006,0.000028267097,0.9896136,0.000027768889,0.00013343501,0.00067546684,0.0002689566,0.0001018996,0.0006445051,0.00029249417,0.0010602195,0.0069712056],"study_design_scores_gemma":[0.000028884637,0.000092257345,0.9936405,0.00004348119,0.00008852626,0.002707058,0.00021663975,0.00038727498,0.0003408085,0.00030812892,0.0021372666,0.000009317155],"about_ca_topic_score_codex":0.0051031196,"about_ca_topic_score_gemma":0.0064514237,"teacher_disagreement_score":0.0051031196,"about_ca_system_score_codex":0.00029169192,"about_ca_system_score_gemma":0.0007395331,"threshold_uncertainty_score":0.019147635},"labels":[],"label_agreement":null},{"id":"W4225343821","doi":"10.1016/j.xhgg.2022.100099","title":"Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","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":"Amgen (Canada)","funders":"National Institute of General Medical Sciences; National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Eye Institute; National Institute on Aging; National Institute of Diabetes and Digestive and Kidney Diseases; Biotechnology and Biological Sciences Research Council; National Institutes of Health; Leverhulme Trust; Ministry of Science and Technology of the People's Republic of China; Aix-Marseille Université; Novo Nordisk Fonden; National Natural Science Foundation of China; American Heart Association; American Diabetes Association; National Cancer Institute; Higher Education Discipline Innovation Project; California Breast Cancer Research Program; National Heart, Lung, and Blood Institute; Science and Technology Commission of Shanghai Municipality; Eunice Kennedy Shriver National Institute of Child Health and Human Development; U.S. Department of Defense","keywords":"Anthropometry; Genome-wide association study; Body mass index; Overweight; Demography; Single-nucleotide polymorphism; Genetics; Population; Obesity; Locus (genetics); Medicine; Biology; Genotype; Internal medicine; Gene","score_opus":0.02174159606080672,"score_gpt":0.2754267829324711,"score_spread":0.25368518687166436,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4225343821","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":[0.9649505,0.004540183,0.020918101,0.0013194265,0.00009964151,0.000107922955,0.0030953933,0.0002303338,0.0047384882],"genre_scores_gemma":[0.98712176,0.0007345707,0.008718661,0.00058432366,0.00009885045,0.00010714735,0.0019480464,0.000103624225,0.00058311253],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99350315,0.003550062,0.00052611163,0.0017057646,0.00038887272,0.00032618296],"domain_scores_gemma":[0.9865458,0.005903548,0.0017642908,0.004097257,0.0009448884,0.0007442467],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.013142672,0.0006333813,0.00091649184,0.0025643567,0.0017088506,0.002719225,0.0008605521,0.0006905392,0.0046308474],"category_scores_gemma":[0.021035539,0.00041639266,0.0018212914,0.004167471,0.001135304,0.00093503075,0.0035328283,0.0012949624,0.00041236958],"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":[0.0009727012,0.00008546871,0.93248564,0.00025645026,0.0051256954,0.0008373466,0.0012891743,0.0016418124,0.008804506,0.0021826085,0.0020209297,0.04429771],"study_design_scores_gemma":[0.00040518164,0.0003092196,0.9575306,0.00026833254,0.0048118047,0.0015172701,0.0009404898,0.0062451274,0.0030722388,0.009678258,0.015133185,0.00008826351],"about_ca_topic_score_codex":0.008503862,"about_ca_topic_score_gemma":0.011831102,"teacher_disagreement_score":0.013142672,"about_ca_system_score_codex":0.00039725742,"about_ca_system_score_gemma":0.0010270748,"threshold_uncertainty_score":0.06950593},"labels":[],"label_agreement":null},{"id":"W4225716713","doi":"10.1016/j.xhgg.2022.100090","title":"Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Cystic Fibrosis Research Advances","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":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; University of Michigan; University of North Carolina at Chapel Hill; Cystic Fibrosis Foundation","keywords":"Imputation (statistics); Genome-wide association study; Genotyping; Genotype; Genetic association; 1000 Genomes Project; Computational biology; Genetics; Medicine; Biology; Missing data; Single-nucleotide polymorphism; Statistics; Gene; Mathematics","score_opus":0.02108922250732254,"score_gpt":0.2936597822772448,"score_spread":0.2725705597699223,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4225716713","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":[0.05719266,0.0016368243,0.88972294,0.0014672372,0.0004900205,0.00022449797,0.03603837,0.010704078,0.0025233948],"genre_scores_gemma":[0.29605657,0.00088328775,0.56037354,0.0023334513,0.00053391844,0.0007724621,0.13395184,0.0019899511,0.003104934],"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.9943234,0.0025094005,0.0005420574,0.0016797185,0.00067486643,0.00027060075],"domain_scores_gemma":[0.9820908,0.007657777,0.00082417624,0.005208783,0.0037413642,0.00047708533],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.015670164,0.001202027,0.002282574,0.002391311,0.0010298912,0.0025430033,0.003329794,0.0016391386,0.0066280114],"category_scores_gemma":[0.04291566,0.0009451583,0.0028624118,0.0029897175,0.00037533283,0.0011003913,0.0026335383,0.0026266398,0.004009596],"study_design_candidate":"bench_or_experimental","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":[0.0029182925,0.00050139555,0.18373205,0.0008507124,0.0043803686,0.0026246642,0.0009881357,0.27152374,0.013162961,0.012474106,0.11535343,0.39149013],"study_design_scores_gemma":[0.00067381683,0.00031788988,0.029767241,0.0002902417,0.0012459811,0.0012570451,0.00014814867,0.8817145,0.009453008,0.032711335,0.04214486,0.00027592212],"about_ca_topic_score_codex":0.0070305723,"about_ca_topic_score_gemma":0.010040119,"teacher_disagreement_score":0.015670164,"about_ca_system_score_codex":0.00056075724,"about_ca_system_score_gemma":0.0021222075,"threshold_uncertainty_score":0.08287275},"labels":[],"label_agreement":null},{"id":"W4297092991","doi":"10.1016/j.xhgg.2022.100146","title":"Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","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":"National Institute of General Medical Sciences; CHEO Research Institute; National Institutes of Health; Children's Hospital of Philadelphia; CHDI Foundation","keywords":"Huntingtin; Genetics; Biology; Exon; Allele; Trinucleotide repeat expansion; Multiplex; Haplotype; Single-nucleotide polymorphism; SNP; Gene; Genotype","score_opus":0.07819855769946896,"score_gpt":0.2930842926352817,"score_spread":0.21488573493581273,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4297092991","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":[0.66814905,0.001787414,0.3037132,0.00025674433,0.0001486501,0.0004251087,0.015226206,0.0047337012,0.0055599567],"genre_scores_gemma":[0.6747384,0.00059827894,0.30998647,0.00039839128,0.000027318238,0.0004196437,0.009606125,0.0008767898,0.0033485051],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.99944276,0.00008604139,0.000051659485,0.00023643688,0.00013536276,0.00004771715],"domain_scores_gemma":[0.9993043,0.000304136,0.00013035335,0.00009686142,0.00009432931,0.00006999545],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00088859914,0.000432609,0.00059708377,0.0006325087,0.00028920636,0.0005062167,0.0004442764,0.00046998853,0.002243645],"category_scores_gemma":[0.0015500253,0.00027224908,0.0006793011,0.00049796334,0.00018767695,0.00024393748,0.0005559699,0.0005767596,0.0009372749],"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":[0.00062387914,0.00014583321,0.036660273,0.00059613626,0.0004995495,0.0009380195,0.0007281567,0.008826301,0.8618936,0.0030654757,0.0033723016,0.082650445],"study_design_scores_gemma":[0.00016571966,0.0006546178,0.118349366,0.00017892916,0.0006034257,0.002266836,0.00036055967,0.122976266,0.71340024,0.0052238987,0.035615485,0.00020468778],"about_ca_topic_score_codex":0.0010616817,"about_ca_topic_score_gemma":0.0048798015,"teacher_disagreement_score":0.002243645,"about_ca_system_score_codex":0.00024268756,"about_ca_system_score_gemma":0.0003417152,"threshold_uncertainty_score":0.007505715},"labels":[],"label_agreement":null},{"id":"W4306932083","doi":"10.1016/j.xhgg.2022.100156","title":"High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Cystic Fibrosis Research Advances","field":"Medicine","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":"Public Health Ontario; University of Toronto; University of Alberta Hospital; Alberta Hospital Edmonton; St. Michael's Hospital; Queen Elizabeth II Health Sciences Centre; St. Paul's Hospital; Alberta Children's Hospital; Izaak Walton Killam Health Centre; London Health Sciences Centre; Hospital for Sick Children; Université de Montréal; University of Calgary; BC Children's Hospital; Centre Hospitalier de l’Université de Montréal; Memorial University of Newfoundland; SickKids Foundation; Kingston Health Sciences Centre","funders":"National Institute of Neurological Disorders and Stroke; National Cancer Institute; National Human Genome Research Institute; National Institute on Drug Abuse; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Hospital for Sick Children; National Institutes of Health; Government of Canada; Cystic Fibrosis Foundation; Government of Ontario; Natural Sciences and Engineering Research Council of Canada; Cystic Fibrosis Canada; Canadian Institutes of Health Research; Genome Canada","keywords":"Meconium Ileus; Haplotype; Genetics; Allele; Cystic fibrosis; Locus (genetics); Biology; Missense mutation; Exome sequencing; Bioinformatics; Gene; Meconium; Mutation; Pregnancy; Fetus","score_opus":0.04812154549821666,"score_gpt":0.33922298628428516,"score_spread":0.2911014407860685,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4306932083","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":[0.73213315,0.002920969,0.2118445,0.0008193017,0.00027150946,0.0003329885,0.041545615,0.0035642444,0.006567669],"genre_scores_gemma":[0.77967685,0.001001234,0.18122077,0.0006723301,0.00016594077,0.00038866716,0.0311146,0.0017327364,0.004026889],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99841225,0.0004799824,0.00016317937,0.0004958234,0.00032185795,0.00012693887],"domain_scores_gemma":[0.9931149,0.0033642903,0.0007394627,0.0014744633,0.0010051567,0.0003018268],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00410998,0.00059187814,0.0008238083,0.0021711376,0.0008001133,0.0013192672,0.00053454994,0.00086061447,0.0071209264],"category_scores_gemma":[0.010090753,0.0004155102,0.001021094,0.0015822976,0.0003774581,0.00052897376,0.0010697208,0.0008421034,0.0020797846],"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":[0.002235464,0.0002848968,0.43372345,0.0011466525,0.0020424447,0.0019222769,0.0022949537,0.012078926,0.3597134,0.005089999,0.01808664,0.16138098],"study_design_scores_gemma":[0.00028161952,0.00062340277,0.7745931,0.0003854789,0.0012480034,0.002499387,0.0010973033,0.046652608,0.0774665,0.019530078,0.07535157,0.00027089092],"about_ca_topic_score_codex":0.004080914,"about_ca_topic_score_gemma":0.01008454,"teacher_disagreement_score":0.0071209264,"about_ca_system_score_codex":0.00026573424,"about_ca_system_score_gemma":0.00071395014,"threshold_uncertainty_score":0.02382189},"labels":[],"label_agreement":null},{"id":"W4307761827","doi":"10.1016/j.xhgg.2022.100157","title":"A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","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":"Dalhousie University; University of Calgary; Children's Hospital of Eastern Ontario; Centre Hospitalier Universitaire Sainte-Justine; Alberta Children's Hospital; Université de Montréal","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; European Regional Development Fund; Max-Planck-Gesellschaft; National Eye Institute; Center for Mendelian Genomics, University of Washington; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Eesti Teadusagentuur; ZonMw","keywords":"Missense mutation; Genetics; Neurodevelopmental disorder; Chromatin; Biology; Mutation; Gene","score_opus":0.011418382469432125,"score_gpt":0.24207028735526703,"score_spread":0.2306519048858349,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4307761827","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":[0.9975426,0.00024537658,0.0010215136,0.000031252916,0.000009327902,0.000020900614,0.00031754057,0.00002669586,0.0007848584],"genre_scores_gemma":[0.99775296,0.00017665893,0.0010767757,0.00004494317,0.000015292311,0.000009889884,0.00046525922,0.000013055804,0.00044506093],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.9997136,0.00001745345,0.000036548383,0.00013738078,0.00005964844,0.00003528163],"domain_scores_gemma":[0.9997799,0.00005142475,0.00006994839,0.000018107563,0.000015964517,0.00006462423],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00012391304,0.000808109,0.00047377122,0.0011872816,0.0004443984,0.00034149914,0.00036217086,0.0005069011,0.0016959736],"category_scores_gemma":[0.00039473025,0.00022697475,0.00031268678,0.00085304084,0.0007079573,0.00018107246,0.00055796147,0.00030969505,0.00031637025],"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":[0.0011455672,0.00032801778,0.24788892,0.00020326802,0.00044425135,0.20873451,0.001002549,0.0006782253,0.50833786,0.001381493,0.0014265002,0.028428907],"study_design_scores_gemma":[0.000057338595,0.00052037707,0.69154793,0.000032590357,0.00024358318,0.28135487,0.00027393925,0.0012217241,0.020166382,0.00037839147,0.004162241,0.00004061145],"about_ca_topic_score_codex":0.0013408056,"about_ca_topic_score_gemma":0.0022234577,"teacher_disagreement_score":0.0016959736,"about_ca_system_score_codex":0.00024340894,"about_ca_system_score_gemma":0.00019095805,"threshold_uncertainty_score":0.0056735277},"labels":[],"label_agreement":null},{"id":"W4315884113","doi":"10.1016/j.xhgg.2023.100178","title":"Guidelines for genetic ancestry inference created through roundtable discussions","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Race, Genetics, and Society","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":false,"ca_institutions":"Centre for Global Health Research","funders":"Medical Research Council; National Institutes of Health; National Human Genome Research Institute; Duke University; American Society of Human Genetics","keywords":"Terminology; Stakeholder; Inference; Genetic genealogy; Population; Variety (cybernetics); Data science; Political science; Computer science; Sociology; Public relations; Artificial intelligence","score_opus":0.08893006164219049,"score_gpt":0.3862007425517241,"score_spread":0.2972706809095336,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4315884113","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":[0.0072864396,0.004746514,0.26202288,0.59250295,0.017056122,0.017475884,0.0019836728,0.0020586764,0.09486672],"genre_scores_gemma":[0.095249854,0.003737016,0.62472785,0.18417144,0.0033748427,0.03629452,0.0025389532,0.0014199739,0.048485614],"study_design_codex":"not_applicable","study_design_gemma":"qualitative","domain_scores_codex":[0.6462772,0.25952917,0.040388197,0.009458061,0.03266045,0.011686963],"domain_scores_gemma":[0.5927849,0.22332488,0.017170534,0.024729943,0.1282632,0.013726605],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.3106147,0.0021074715,0.0016680611,0.006938698,0.011448704,0.01757573,0.012888487,0.032325577,0.012195575],"category_scores_gemma":[0.36988747,0.0028258183,0.0036166285,0.004255215,0.012955201,0.015872525,0.018535387,0.026150543,0.0080260895],"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":[0.00015371926,0.00025806474,0.0011247784,0.0017149375,0.00006332931,0.0017478621,0.057603344,0.0023102032,0.0018156942,0.3546373,0.48119307,0.09737768],"study_design_scores_gemma":[0.00009257875,0.00007116641,0.0005711831,0.00407727,0.00004110399,0.00025382053,0.013307796,0.0012860742,0.0008401402,0.09836153,0.8809177,0.00017953895],"about_ca_topic_score_codex":0.01810453,"about_ca_topic_score_gemma":0.023018304,"teacher_disagreement_score":0.3106147,"about_ca_system_score_codex":0.020595038,"about_ca_system_score_gemma":0.06496903,"threshold_uncertainty_score":0.8501348},"labels":[],"label_agreement":null},{"id":"W4317241007","doi":"10.1016/j.xhgg.2023.100181","title":"Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","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":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Horizon 2020 Framework Programme; Stichting tot Verbetering van het Lot der Blinden; Foundation Fighting Blindness; Stichting Blindenhulp; Algemene Nederlandse Vereniging ter voorkoming van Blindheid; Stichting Blinden-Penning; Landelijke Stichting voor Blinden en Slechtzienden; Velux Stiftung; Rotterdamse Stichting Blindenbelangen; Horizon 2020; Oogfonds; European Commission","keywords":"splice; Genetics; Biology; Genome; Computational biology; Whole genome sequencing; Gene","score_opus":0.01805685527968597,"score_gpt":0.25210621073719064,"score_spread":0.23404935545750466,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4317241007","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":[0.9713008,0.0013812083,0.023316022,0.0001198278,0.000024972625,0.00008613941,0.0020105431,0.0005513493,0.001209142],"genre_scores_gemma":[0.9561342,0.00063890126,0.038268175,0.0001775568,0.000022314245,0.00005096027,0.0035081443,0.00017610482,0.0010237069],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99962425,0.00006356676,0.00003711294,0.00014260734,0.000102626036,0.000029926125],"domain_scores_gemma":[0.9995179,0.00024382472,0.000098390345,0.000057455032,0.00004509409,0.000037304748],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005075577,0.00064124033,0.00037984035,0.00073265383,0.00024644047,0.00044881075,0.00019782719,0.0006108624,0.0016098982],"category_scores_gemma":[0.0008467158,0.00021615809,0.00047972595,0.00045202512,0.00025346963,0.00012917983,0.00033930747,0.0004082005,0.00042687228],"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":[0.00037216055,0.00006345294,0.049427785,0.00013588842,0.00012322383,0.001173804,0.00029246366,0.0009862162,0.90796864,0.00016046944,0.0002778081,0.03901811],"study_design_scores_gemma":[0.000062745945,0.0008830695,0.37060568,0.0000687251,0.0003775219,0.00968933,0.000320943,0.013061957,0.5955047,0.0007101118,0.008654045,0.000061229744],"about_ca_topic_score_codex":0.0010427614,"about_ca_topic_score_gemma":0.0034512677,"teacher_disagreement_score":0.0016098982,"about_ca_system_score_codex":0.00013553823,"about_ca_system_score_gemma":0.00016118637,"threshold_uncertainty_score":0.0053856373},"labels":[],"label_agreement":null},{"id":"W4317568439","doi":"10.1016/j.xhgg.2023.100182","title":"Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Mitochondrial Function and Pathology","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":"Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research","keywords":"Phosphoenolpyruvate carboxykinase; Gluconeogenesis; Peripheral neuropathy; Phenotype; Biology; Compound heterozygosity; Endocrinology; Hypoglycemia; Internal medicine; Gene; Medicine; Pathology; Genetics; Metabolism; Insulin; Diabetes mellitus","score_opus":0.01749300409026396,"score_gpt":0.2611404562379214,"score_spread":0.24364745214765746,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4317568439","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":[0.9958585,0.0005784202,0.001738639,0.00013656678,0.000021984733,0.000029111989,0.00022102785,0.000090546724,0.0013252689],"genre_scores_gemma":[0.9981615,0.00021584993,0.00074917346,0.00007307978,0.00001985072,0.000008582261,0.00012386474,0.000024103681,0.00062398944],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.9996413,0.000045249235,0.00004064208,0.00013485075,0.00009241713,0.00004545771],"domain_scores_gemma":[0.99970216,0.00006858099,0.00008570416,0.000022954078,0.00002233553,0.00009830154],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00021545355,0.0018618709,0.00043030534,0.0008896654,0.00072760996,0.00032895943,0.00036160572,0.0011339637,0.0025446548],"category_scores_gemma":[0.0005488657,0.0003516965,0.00021803366,0.0008473748,0.0005306355,0.00026642936,0.0007865828,0.00063497823,0.00051426596],"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":[0.0020105036,0.0004110337,0.09681416,0.00030516385,0.00035867273,0.19350629,0.0008611828,0.00071418803,0.682256,0.0012902906,0.0012556141,0.02021699],"study_design_scores_gemma":[0.00017594986,0.0013967893,0.3704483,0.00011031366,0.00040520815,0.54801434,0.00052368967,0.00243111,0.07109342,0.0010549654,0.0042593842,0.00008659263],"about_ca_topic_score_codex":0.00069875625,"about_ca_topic_score_gemma":0.0012759609,"teacher_disagreement_score":0.0025446548,"about_ca_system_score_codex":0.00024246598,"about_ca_system_score_gemma":0.00021881358,"threshold_uncertainty_score":0.008512676},"labels":[],"label_agreement":null},{"id":"W4319871816","doi":"10.1016/j.xhgg.2023.100183","title":"The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Acute Lymphoblastic Leukemia research","field":"Medicine","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":"University of California, San Francisco; Universitatea de Medicină şi Farmacie din Tîrgu Mureș; Terry Fox Foundation","keywords":"Mercaptopurine; Vietnamese; Lymphoblastic Leukemia; Neutropenia; Medicine; Internal medicine; Leukemia; Chemotherapy; Philosophy","score_opus":0.015466687885750108,"score_gpt":0.2967171551153533,"score_spread":0.2812504672296032,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4319871816","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":[0.9997081,0.00013262684,0.000018676441,0.000008568109,9.398186e-7,0.0000010563763,0.000040645147,5.6762127e-7,0.000088734916],"genre_scores_gemma":[0.9998217,0.000058542806,0.000022131666,0.000006787578,9.073878e-7,9.774033e-7,0.000044830584,9.4951605e-7,0.000043125936],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99968207,0.000095329924,0.000037808477,0.00008043248,0.000052789368,0.00005164308],"domain_scores_gemma":[0.9993623,0.00015047596,0.0002997713,0.00003231022,0.000050916064,0.00010428823],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00029938333,0.00016597958,0.00016806938,0.00025836186,0.00016303756,0.00032721908,0.0001495428,0.0001318085,0.00086706184],"category_scores_gemma":[0.0010043842,0.0001256309,0.0002105096,0.0004055419,0.0001971072,0.00014777589,0.00019882298,0.00022873795,0.00008751034],"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":[0.0001691725,0.000017112088,0.99492764,0.0000113199585,0.000038540402,0.000766132,0.00025443995,0.00006530839,0.0013010283,0.00002905223,0.000034230423,0.0023860014],"study_design_scores_gemma":[0.0000055863024,0.00012377306,0.9964206,0.000009895449,0.000033713048,0.0020351696,0.00034654466,0.00017500803,0.0004515641,0.000021676378,0.00037269873,0.000003821415],"about_ca_topic_score_codex":0.0056196903,"about_ca_topic_score_gemma":0.0065762037,"teacher_disagreement_score":0.0056196903,"about_ca_system_score_codex":0.00030944182,"about_ca_system_score_gemma":0.00023713439,"threshold_uncertainty_score":0.011173964},"labels":[],"label_agreement":null},{"id":"W4320004634","doi":"10.1016/j.xhgg.2022.100161","title":"Community partnerships are fundamental to ethical ancient DNA research","year":2023,"lang":"en","type":"letter","venue":"Human Genetics and Genomics Advances","topic":"Forensic and Genetic Research","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":"Simon Fraser University; McGill University","funders":"","keywords":"Indigenous; Engineering ethics; Political science; Multidisciplinary approach; Public relations; Environmental ethics; Research ethics; Globe; Sociology; Law; Biology; Ecology; Engineering","score_opus":0.20793493120845777,"score_gpt":0.4197582258507334,"score_spread":0.21182329464227564,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4320004634","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":[0.013386362,0.0076272674,0.1297889,0.7173754,0.0053717755,0.0007114197,0.00006947392,0.00023184027,0.12543757],"genre_scores_gemma":[0.6004263,0.004648725,0.10169919,0.24145672,0.0040712315,0.003210497,0.00015186256,0.00044924582,0.043886226],"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.7260909,0.19942138,0.008133568,0.01683696,0.039589837,0.009927362],"domain_scores_gemma":[0.72633076,0.16394785,0.01772085,0.035721827,0.027476404,0.02880236],"candidate_categories":["metaresearch","research_integrity"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.19582857,0.00075709884,0.0019617819,0.0014434748,0.01947567,0.020573666,0.0046457783,0.023119636,0.0058117826],"category_scores_gemma":[0.18597068,0.0016050043,0.0012483312,0.0012636026,0.08483705,0.024476584,0.031005973,0.027663749,0.002890066],"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":[0.000029923809,0.00007842084,0.0010682448,0.00023196226,0.000034925743,0.00042123508,0.051449932,0.0002507584,0.00038716,0.88990957,0.030743117,0.025394758],"study_design_scores_gemma":[0.000038507955,0.000050441762,0.00041345542,0.000612156,0.000016465792,0.00052219024,0.010450052,0.00035901146,0.00033205826,0.69467926,0.29246277,0.0000635814],"about_ca_topic_score_codex":0.002792108,"about_ca_topic_score_gemma":0.0046428265,"teacher_disagreement_score":0.9768804,"about_ca_system_score_codex":0.0056277914,"about_ca_system_score_gemma":0.04124481,"threshold_uncertainty_score":0.9916865},"labels":[],"label_agreement":null},{"id":"W4320921963","doi":"10.1016/j.xhgg.2023.100185","title":"Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"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":"Cancer Research UK; National Health and Medical Research Council; National Cancer Institute; Seventh Framework Programme; European Research Council; National Institutes of Health; Wellcome Trust; QIMR Berghofer Medical Research Institute; Medical Research Council; Ovarian Cancer Research Foundation; Canadian Institutes of Health Research; Genome Canada","keywords":"Biology; Endometrial cancer; Genome-wide association study; Genetics; Alternative splicing; Single-nucleotide polymorphism; Quantitative trait locus; Locus (genetics); RNA splicing; Expression quantitative trait loci; Gene; Cancer; Exon; Genotype","score_opus":0.014512434417101414,"score_gpt":0.3170440665799367,"score_spread":0.3025316321628353,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4320921963","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":[0.72139233,0.005309854,0.16638687,0.0020896723,0.00057117076,0.00017600563,0.08395961,0.0056421715,0.01447239],"genre_scores_gemma":[0.8295598,0.0014929895,0.10991231,0.0006877576,0.00013404517,0.00012360237,0.053245507,0.0010582828,0.0037858828],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9989743,0.0002336755,0.00012424054,0.00039156614,0.00019322027,0.00008290937],"domain_scores_gemma":[0.9967667,0.0017128552,0.0005015887,0.00047954652,0.00036034983,0.0001789564],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002687018,0.0006399137,0.0006162546,0.0017342822,0.0009740838,0.0013584527,0.00044612287,0.0004853598,0.008154582],"category_scores_gemma":[0.0040029995,0.0002821551,0.0012316803,0.001547662,0.00033254054,0.00046127092,0.0007944166,0.00076098565,0.0019691929],"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":[0.0029802134,0.00014129786,0.45690337,0.0019518407,0.0013963165,0.0047394666,0.0011882897,0.009692834,0.3432391,0.01203556,0.015296517,0.15043521],"study_design_scores_gemma":[0.00049319793,0.0005262009,0.53434914,0.0012270733,0.0028314725,0.009811696,0.0013671777,0.06054473,0.15187591,0.050213393,0.18646085,0.0002991522],"about_ca_topic_score_codex":0.002905946,"about_ca_topic_score_gemma":0.008187007,"teacher_disagreement_score":0.008154582,"about_ca_system_score_codex":0.0004331717,"about_ca_system_score_gemma":0.001163336,"threshold_uncertainty_score":0.027279735},"labels":[],"label_agreement":null},{"id":"W4366525930","doi":"10.1016/j.xhgg.2023.100198","title":"De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"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 Calgary","funders":"National Institute on Deafness and Other Communication Disorders; National Human Genome Research Institute; Genome Alberta; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Research Foundation; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Ontario Genomics Institute","keywords":"Chromatin remodeling; Biology; Chromatin; Genetics; Histone; Nucleosome; Epigenetics; Neurodevelopmental disorder; Histone deacetylase; Cell biology; Gene","score_opus":0.0072665624875109195,"score_gpt":0.23240129037869256,"score_spread":0.22513472789118164,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4366525930","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":[0.9970092,0.00021685161,0.0008703622,0.00014664157,0.00002728787,0.000026921181,0.00033245835,0.00002288129,0.0013474108],"genre_scores_gemma":[0.9988668,0.000081218044,0.00053562643,0.0000576265,0.000012445514,0.0000067255783,0.00009896936,0.000005249848,0.00033529504],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9996338,0.000031638323,0.000042888252,0.00015826528,0.00009156547,0.000041861724],"domain_scores_gemma":[0.9997199,0.0000853766,0.00006614174,0.000015960315,0.00003127588,0.00008139291],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00019623054,0.0009132304,0.00030129697,0.0013233047,0.0008652032,0.00033840517,0.00035249942,0.0008048138,0.002261539],"category_scores_gemma":[0.000996808,0.00024703846,0.00031307995,0.0006100066,0.0005139477,0.00021617893,0.00051726383,0.00046999237,0.00019934481],"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":[0.00064825796,0.00026456616,0.7041202,0.0000782565,0.000165113,0.20170979,0.0020321542,0.0006244634,0.07405895,0.001319251,0.0010561636,0.0139227845],"study_design_scores_gemma":[0.000066243876,0.00046403953,0.64383787,0.000060552557,0.00024070976,0.33327183,0.00073812413,0.0011748405,0.016210081,0.0008102786,0.0030731822,0.000052222375],"about_ca_topic_score_codex":0.004767193,"about_ca_topic_score_gemma":0.004773992,"teacher_disagreement_score":0.004767193,"about_ca_system_score_codex":0.0003444287,"about_ca_system_score_gemma":0.00028769163,"threshold_uncertainty_score":0.009478867},"labels":[],"label_agreement":null},{"id":"W4377138039","doi":"10.1016/j.xhgg.2023.100209","title":"Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","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":"Université du Québec à Chicoutimi; Université Laval; Occupational Cancer Research Centre","funders":"Canadian Institutes of Health Research","keywords":"Multivariate statistics; Univariate; Heritability; Statistics; Trait; Genome-wide association study; Biology; Single-nucleotide polymorphism; Genetic architecture; Quantitative trait locus; Genetics; Mathematics; Genotype; Computer science; Gene","score_opus":0.020697850674740382,"score_gpt":0.3166412133835023,"score_spread":0.2959433627087619,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4377138039","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":[0.034094173,0.00017603069,0.9638727,0.00016099824,0.00002711503,0.00005257734,0.00047216538,0.0008888022,0.00025545107],"genre_scores_gemma":[0.5265234,0.00038182235,0.46630487,0.0003375817,0.00014116264,0.0004274638,0.0031412062,0.0006083675,0.0021340938],"study_design_codex":"simulation_or_modeling","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.9970605,0.0021946272,0.00012462137,0.00034647994,0.00016811864,0.000105708605],"domain_scores_gemma":[0.9753827,0.019714387,0.0017548674,0.0018966807,0.00096570514,0.00028572473],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.008811996,0.0011105642,0.0011070463,0.001147511,0.0002562885,0.00084041036,0.0012425807,0.00063410366,0.0024832545],"category_scores_gemma":[0.03180137,0.0005216567,0.001520274,0.0011490526,0.0007005015,0.0011587914,0.0011943727,0.0016608752,0.0005033099],"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":[0.000762583,0.00012631368,0.04990441,0.00027851065,0.0011309913,0.00042865402,0.00023100655,0.7577792,0.0045547793,0.03395811,0.004657977,0.14618744],"study_design_scores_gemma":[0.00002579425,0.0000717688,0.0028839868,0.000016738504,0.0000380921,0.000051493855,0.000007629355,0.9858242,0.00057629537,0.009816062,0.0006671507,0.000020764981],"about_ca_topic_score_codex":0.004579082,"about_ca_topic_score_gemma":0.004863684,"teacher_disagreement_score":0.008811996,"about_ca_system_score_codex":0.00046451006,"about_ca_system_score_gemma":0.00085195806,"threshold_uncertainty_score":0.046602845},"labels":[],"label_agreement":null},{"id":"W4380886788","doi":"10.1016/j.xhgg.2023.100213","title":"Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Cardiomyopathy and Myosin Studies","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 Toronto; Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institutes of Health; National Heart, Lung, and Blood Institute; University of Washington","keywords":"MYH7; Sarcomere; Skeletal muscle; Actin; Biology; Cardiac muscle; Myosin; Cardiomyopathy; Tropomyosin; Missense mutation; MYH6; Myocyte; Arthrogryposis; Genetics; Internal medicine; Gene; Anatomy; Medicine; Cell biology; Phenotype; Heart failure; Myosin light-chain kinase","score_opus":0.021771067136560632,"score_gpt":0.2877996301291127,"score_spread":0.26602856299255206,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4380886788","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":[0.9843179,0.0027535418,0.004497791,0.0006423576,0.00009978152,0.00008292067,0.00081579224,0.00019318413,0.006596735],"genre_scores_gemma":[0.9957496,0.0009247235,0.0015026308,0.0001656672,0.00009589371,0.000020846002,0.00037339376,0.000024760315,0.0011424649],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.9995944,0.00006157646,0.000032369484,0.00013483014,0.00013687233,0.00003987906],"domain_scores_gemma":[0.99924695,0.0002333958,0.00031036758,0.00002527441,0.00004222,0.00014175272],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002840404,0.0021013992,0.00038057723,0.0017933949,0.00074764737,0.0003191887,0.0005705114,0.0010386612,0.0026426392],"category_scores_gemma":[0.0010725694,0.00022230971,0.0002731023,0.0011602958,0.0009800713,0.00017869387,0.00057547796,0.0005831181,0.00047373577],"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":[0.0010401065,0.00019967729,0.19027519,0.00045195722,0.00044576768,0.36820993,0.0014263075,0.0019340517,0.38965556,0.004793793,0.004897497,0.036670174],"study_design_scores_gemma":[0.00013994057,0.00045694222,0.3314344,0.00020542496,0.00047225488,0.605779,0.00041558943,0.0026433973,0.044408157,0.0013596613,0.01260541,0.00007979148],"about_ca_topic_score_codex":0.001980366,"about_ca_topic_score_gemma":0.003123659,"teacher_disagreement_score":0.0026426392,"about_ca_system_score_codex":0.00046375702,"about_ca_system_score_gemma":0.00046476917,"threshold_uncertainty_score":0.008840501},"labels":[],"label_agreement":null},{"id":"W4385623879","doi":"10.1016/j.xhgg.2023.100229","title":"USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"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":"Gelderse Blinden Stichting; Université de Montpellier; Fondation de France; Deutsche Forschungsgemeinschaft; Agence Nationale de la Recherche; Union Nationale des Aveugles et Déficients Visuels; Foundation Fighting Blindness","keywords":"Retinitis pigmentosa; Biology; Usher syndrome; Phenotype; Induced pluripotent stem cell; Genetics; Genetic heterogeneity; Organoid; Gene","score_opus":0.019926478954328516,"score_gpt":0.25516423524147047,"score_spread":0.23523775628714194,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4385623879","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":[0.98705673,0.0022286584,0.005747764,0.00008923616,0.000052845222,0.00006184888,0.0009370006,0.0002486183,0.0035774533],"genre_scores_gemma":[0.99432015,0.00090977957,0.001626865,0.00008202729,0.000007690551,0.000047248417,0.00093871367,0.00004122515,0.0020262105],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.99963343,0.00005181619,0.000055823137,0.00008978515,0.00013343875,0.00003577256],"domain_scores_gemma":[0.999736,0.00007389805,0.00005041193,0.000073016505,0.000022018154,0.00004454857],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00022808505,0.00038238213,0.0002942538,0.0004719765,0.0001960596,0.00043718997,0.00016619131,0.00041347058,0.0012614736],"category_scores_gemma":[0.0002260864,0.00018433003,0.00044174705,0.00017351784,0.0003297966,0.00022890791,0.0006518069,0.00069786713,0.00049686595],"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":[0.00009728491,0.000021237398,0.0012145564,0.000040809045,0.000016872467,0.0009686133,0.00012826799,0.00009507119,0.9953557,0.000176791,0.00006938941,0.001815447],"study_design_scores_gemma":[0.00002509532,0.00054377137,0.036814842,0.000037471447,0.00009221312,0.012078342,0.00040037453,0.0011425413,0.94112897,0.00029666693,0.007408993,0.000030681844],"about_ca_topic_score_codex":0.00044180427,"about_ca_topic_score_gemma":0.00074091885,"teacher_disagreement_score":0.0012614736,"about_ca_system_score_codex":0.00017376736,"about_ca_system_score_gemma":0.0001127905,"threshold_uncertainty_score":0.0042200685},"labels":[],"label_agreement":null},{"id":"W4385732756","doi":"10.1016/j.xhgg.2023.100230","title":"Genetically predicted waist-to-hip circumference ratio and coronary artery disease: A sex-specific Mendelian randomization study","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","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":"Montreal Heart Institute; Université de Montréal","funders":"Canadian Institutes of Health Research; Alliance de recherche numérique du Canada; Fonds de Recherche du Québec - Santé; Institut de Valorisation des Données","keywords":"Mendelian randomization; Waist; Coronary artery disease; Body mass index; Waist–hip ratio; Medicine; Circumference; Disease; Internal medicine; Causal inference; Demography; Biology; Genetics; Pathology; Genotype; Genetic variants; Gene","score_opus":0.019373275007623394,"score_gpt":0.27246602761061783,"score_spread":0.25309275260299446,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4385732756","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":[0.9506562,0.0014984036,0.043917976,0.000699925,0.00024253612,0.00049338455,0.00129713,0.00019301384,0.0010014788],"genre_scores_gemma":[0.9839766,0.00017280823,0.013980391,0.00028717183,0.00007659256,0.0003834485,0.000583983,0.00006297833,0.0004760775],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9823307,0.012784647,0.0008061607,0.0027594196,0.000879313,0.00043982803],"domain_scores_gemma":[0.9831988,0.009771512,0.0018098421,0.0042388677,0.0005876137,0.00039344278],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.017827034,0.00092977384,0.0014167981,0.00064688973,0.0006424108,0.0007069181,0.0011291573,0.0014410574,0.003469675],"category_scores_gemma":[0.034215163,0.00057812425,0.002609327,0.0008847362,0.0008933984,0.00057807355,0.0005955515,0.0013101783,0.00031065315],"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":[0.064169884,0.0018878838,0.79492813,0.00093988335,0.03204815,0.007175682,0.001567819,0.007895516,0.01726202,0.01584618,0.008407499,0.0478713],"study_design_scores_gemma":[0.018795148,0.013758734,0.79187423,0.00032868786,0.026426893,0.013831673,0.00055813446,0.09317944,0.0041573383,0.023175558,0.013467586,0.00044647517],"about_ca_topic_score_codex":0.0026013104,"about_ca_topic_score_gemma":0.0020172803,"teacher_disagreement_score":0.017827034,"about_ca_system_score_codex":0.00037084715,"about_ca_system_score_gemma":0.00073786505,"threshold_uncertainty_score":0.09427947},"labels":[],"label_agreement":null},{"id":"W4385782227","doi":"10.1016/j.xhgg.2023.100232","title":"Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Congenital heart defects research","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":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Human Genome Research Institute; Centers for Disease Control and Prevention; National Institutes of Health; Sydäntutkimussäätiö; Lastentautien Tutkimussäätiö; Academy of Finland; Children's Hospital Foundation; Canadian Institutes of Health Research; Suomen Lääketieteen Säätiö; California Department of Public Health; University of Washington; National Heart, Lung, and Blood Institute; Hospital for Sick Children; Heart and Stroke Foundation of Canada; U.S. Department of Veterans Affairs; Foundation for Cardiovascular Research; Helsingin Yliopisto; Nationwide Children's Hospital","keywords":"Hypoplastic left heart syndrome; Zebrafish; Hypoplasia; Internal medicine; Ventricle; Biology; Genetics; Cardiology; Heart disease; Medicine; Gene","score_opus":0.013223882514155728,"score_gpt":0.2867544206553736,"score_spread":0.27353053814121786,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4385782227","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":[0.9937125,0.0008405945,0.001326928,0.00027652414,0.000074189906,0.000025997451,0.00083136914,0.00010196659,0.0028098852],"genre_scores_gemma":[0.9972759,0.00021624289,0.00090429187,0.000121757446,0.00010383901,0.0000150649985,0.00062675634,0.00003292639,0.00070337515],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9994086,0.000087900145,0.000040499224,0.00027543493,0.0001428695,0.00004469315],"domain_scores_gemma":[0.99922514,0.0002521811,0.00022625986,0.000050124057,0.000053266893,0.00019305048],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00025561254,0.0013208211,0.00051957247,0.0013512791,0.00059887936,0.0005376311,0.00054211594,0.0012743834,0.007006914],"category_scores_gemma":[0.0017005105,0.0002691851,0.000697315,0.00092086353,0.0005222552,0.00024869273,0.00058660604,0.0007065803,0.00053020846],"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":[0.0017668323,0.00016051813,0.88267606,0.00013927395,0.0008239666,0.042078346,0.00053199055,0.0007609345,0.0493365,0.0008970849,0.0029176627,0.017910862],"study_design_scores_gemma":[0.00008852418,0.00024695994,0.9217676,0.00006934204,0.00043610838,0.06793759,0.00022102648,0.0017696491,0.003642707,0.00080006104,0.0029747016,0.000045867397],"about_ca_topic_score_codex":0.0019357724,"about_ca_topic_score_gemma":0.0017679974,"teacher_disagreement_score":0.007006914,"about_ca_system_score_codex":0.00019183877,"about_ca_system_score_gemma":0.00019228415,"threshold_uncertainty_score":0.02344048},"labels":[],"label_agreement":null},{"id":"W4386398823","doi":"10.1016/j.xhgg.2023.100236","title":"Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Neurological diseases and metabolism","field":"Neuroscience","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":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; Chinese Academy of Medical Sciences; Robert Wood Johnson Foundation; Division of Chemistry; University of California, San Francisco; Burroughs Wellcome Fund; Children's Hospital of Philadelphia; National Cancer Institute; National Institutes of Health; National Science Foundation","keywords":"Ferritin; Neuropathology; Neurodegeneration; Biology; Exome sequencing; Oxidative stress; Genetics; Phenotype; Gene; Biochemistry; Disease; Medicine; Pathology","score_opus":0.05607408555115141,"score_gpt":0.3020192627899889,"score_spread":0.24594517723883752,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4386398823","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":[0.9983565,0.00024271781,0.0005519966,0.000058851085,0.000011135797,0.000016589693,0.00012765617,0.000036933234,0.000597485],"genre_scores_gemma":[0.99880743,0.00015197144,0.000502892,0.00004956484,0.000024827685,0.000005041203,0.0001084588,0.000009540029,0.0003401623],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.9998048,0.000017126316,0.000015623682,0.000069632595,0.00006174974,0.00003117291],"domain_scores_gemma":[0.99969697,0.000110871835,0.00009244335,0.000015062493,0.000020090592,0.00006450768],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00012534289,0.0012291424,0.000330058,0.00047210543,0.0006773956,0.00020004933,0.00030049228,0.0006617429,0.0012365828],"category_scores_gemma":[0.0006144262,0.00023341543,0.00022424418,0.0003225155,0.00062315696,0.00014339804,0.00030385974,0.0004265873,0.00025570492],"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":[0.0007067034,0.00037567437,0.28598034,0.0001930932,0.0003305788,0.47259757,0.0016944093,0.0008332372,0.20353784,0.001105574,0.0022665542,0.030378379],"study_design_scores_gemma":[0.000109039815,0.0009943278,0.36442292,0.00003731847,0.0002715869,0.5987576,0.000405524,0.0012609818,0.02897244,0.00045691317,0.004275941,0.000035422607],"about_ca_topic_score_codex":0.0015056588,"about_ca_topic_score_gemma":0.0018232188,"teacher_disagreement_score":0.0015056588,"about_ca_system_score_codex":0.00032470073,"about_ca_system_score_gemma":0.00023046673,"threshold_uncertainty_score":0.0041368008},"labels":[],"label_agreement":null},{"id":"W4386629989","doi":"10.1016/j.xhgg.2023.100237","title":"Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"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; Stichting tot Verbetering van het Lot der Blinden; Rotterdamse Stichting Blindenbelangen; Stichting Blinden-Penning; Landelijke Stichting voor Blinden en Slechtzienden; Gelderse Blinden Stichting; Horizon 2020; Oogfonds; Pro Retina-Stiftung; Israel Science Foundation; Retina UK; Stichting voor Ooglijders; Stichting Steunfonds Uitzicht; National Institutes of Health; Stichting Blindenhulp; Foundation Fighting Blindness; Grantová Agentura, Univerzita Karlova; H2020 Marie Skłodowska-Curie Actions; Research to Prevent Blindness","keywords":"ABCA4; Genetics; Biology; Sanger sequencing; Allele; splice; Proband; Stargardt disease; Gene; Compound heterozygosity; DNA sequencing; Phenotype; Mutation","score_opus":0.011652979455371745,"score_gpt":0.24915311994055347,"score_spread":0.23750014048518173,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4386629989","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":[0.98958415,0.0014242842,0.0077122995,0.00013716103,0.0000155952,0.000013202495,0.00048802738,0.00006275534,0.0005625452],"genre_scores_gemma":[0.9937365,0.000981256,0.004207311,0.00011145676,0.000031102423,0.000014009872,0.0006011107,0.000034072884,0.000283111],"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.99886703,0.00033091256,0.0001334363,0.00035368168,0.00023097346,0.000083889194],"domain_scores_gemma":[0.9987802,0.00060977036,0.00026876558,0.00017960697,0.00009938998,0.00006228582],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009989181,0.00063999486,0.00061019737,0.0011140422,0.00026058513,0.0005106284,0.00028615564,0.0003996245,0.0010486301],"category_scores_gemma":[0.0021007983,0.00025664622,0.00037812552,0.0007548684,0.00039785868,0.0002310414,0.00037643168,0.0005113032,0.0003265413],"study_design_candidate":"bench_or_experimental","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":[0.00048818302,0.00007610054,0.47828788,0.00021293675,0.00040067593,0.005001297,0.0008197044,0.0016507438,0.45566773,0.001025082,0.00044747425,0.055922173],"study_design_scores_gemma":[0.000061226405,0.0005268775,0.8659377,0.00008479749,0.000587055,0.015425447,0.0005373023,0.0057932897,0.10203586,0.0022884833,0.0066718175,0.00005018549],"about_ca_topic_score_codex":0.0011752067,"about_ca_topic_score_gemma":0.0014496815,"teacher_disagreement_score":0.0011752067,"about_ca_system_score_codex":0.00017830581,"about_ca_system_score_gemma":0.00015119929,"threshold_uncertainty_score":0.0052828193},"labels":[],"label_agreement":null},{"id":"W4386799849","doi":"10.1016/j.xhgg.2023.100240","title":"BRCA1 frameshift variants leading to extended incorrect protein C termini","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","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":false,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"Princess Margaret Cancer Centre","funders":"National Institutes of Health; National Cancer Institute; Ovarian Cancer Research Alliance; Breast Cancer Research Foundation","keywords":"Frameshift mutation; Biology; Genetics; Computational biology; Loss function; Family history; Phenotype; Gene; Medicine; Internal medicine","score_opus":0.015439957004160738,"score_gpt":0.30383143451971234,"score_spread":0.2883914775155516,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4386799849","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":[0.9977452,0.000603778,0.00088081893,0.000023306846,0.000007266482,0.000017691676,0.00022400374,0.000017824688,0.00048009856],"genre_scores_gemma":[0.9986517,0.00017235857,0.00078102923,0.00003267784,0.000005025581,0.0000048872034,0.00020129305,0.0000069609778,0.0001441697],"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.9993887,0.000114302806,0.000079904814,0.0001532329,0.00018835627,0.00007542384],"domain_scores_gemma":[0.998845,0.0004177242,0.00043035744,0.00011755762,0.00011715604,0.000072173134],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008153466,0.0004488835,0.00029722817,0.0009497015,0.00036396255,0.00035127197,0.00027151007,0.00029169998,0.0009827586],"category_scores_gemma":[0.0022591152,0.00014026728,0.00029228933,0.0006382899,0.00038735443,0.0001854615,0.00023840256,0.00028541207,0.00021064734],"study_design_candidate":"bench_or_experimental","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":[0.00055726786,0.00008121848,0.89116204,0.00010243583,0.00012967442,0.008395905,0.000489726,0.00072067423,0.0761083,0.00032795584,0.00026312075,0.021661695],"study_design_scores_gemma":[0.00001603286,0.00034907353,0.92978317,0.000052226726,0.00014409196,0.02555235,0.00028217916,0.0011891363,0.03894559,0.00034932612,0.0033089435,0.000027827464],"about_ca_topic_score_codex":0.0019400415,"about_ca_topic_score_gemma":0.003114542,"teacher_disagreement_score":0.0019400415,"about_ca_system_score_codex":0.00024632068,"about_ca_system_score_gemma":0.00020331063,"threshold_uncertainty_score":0.0043120384},"labels":[],"label_agreement":null},{"id":"W4389242863","doi":"10.1016/j.xhgg.2023.100259","title":"Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Cellular transport and secretion","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":"BC Children's Hospital; University of British Columbia","funders":"University of British Columbia; Children's Hospital Foundation; Government of Canada; Genome British Columbia; BC Children’s Hospital Foundation; BC Children's Hospital","keywords":"Phosphorylation; Serine; Germline; mTORC1; Ribosomal protein s6; Neurodevelopmental disorder; Kinase; Missense mutation; Protein kinase A; Biology; Genetics; Cancer research; Mutation; Gene; Protein phosphorylation; Protein kinase B","score_opus":0.006182645136511307,"score_gpt":0.20370214864828246,"score_spread":0.19751950351177114,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4389242863","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":[0.997439,0.00022810078,0.0008193159,0.00016513743,0.00002304459,0.000016984368,0.00026346816,0.000052365307,0.000992569],"genre_scores_gemma":[0.99837995,0.00015000095,0.00079479784,0.000040026487,0.000032741184,0.000007556053,0.00013773423,0.00001686473,0.00044032393],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.9996829,0.000031816646,0.00003289845,0.0000940836,0.000096833544,0.00006145642],"domain_scores_gemma":[0.99940944,0.00014581313,0.00023919565,0.00002185213,0.000035623245,0.00014801361],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00016351318,0.0015591356,0.00046924438,0.001409357,0.0007027217,0.00030249864,0.00047647182,0.0010276958,0.0038375747],"category_scores_gemma":[0.000849195,0.00027403867,0.00033731584,0.0007264657,0.0007053649,0.0002907335,0.0006171442,0.0005523046,0.00032271512],"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":[0.00053336995,0.00017036761,0.2406125,0.00010289342,0.000119358,0.64681536,0.0006561373,0.00050004775,0.10107984,0.00080624764,0.00087122415,0.007732677],"study_design_scores_gemma":[0.000034597906,0.00027267446,0.25272885,0.000027346756,0.00016537374,0.71494704,0.00030922753,0.0009721687,0.028250635,0.00038837176,0.0018728339,0.000030861826],"about_ca_topic_score_codex":0.0020717138,"about_ca_topic_score_gemma":0.0020037538,"teacher_disagreement_score":0.0038375747,"about_ca_system_score_codex":0.0003522399,"about_ca_system_score_gemma":0.00048928545,"threshold_uncertainty_score":0.012838006},"labels":[],"label_agreement":null},{"id":"W4391349613","doi":"10.1016/j.xhgg.2024.100273","title":"Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genomics and Chromatin Dynamics","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":"London Health Sciences Centre","funders":"National Institutes of Health, Pakistan; National Institute of Diabetes and Digestive and Kidney Diseases; National Eye Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Cornelia de Lange Syndrome Foundation; University of California, San Diego; Manchester Biomedical Research Centre; Deutsche Forschungsgemeinschaft; Medical Research Council; Cotton Research and Development Corporation; Foundation Fighting Blindness; National Institutes of Health; National Human Genome Research Institute; Wellcome Trust; Microsoft; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research","keywords":"Biology; Missense mutation; Genetics; Loss function; Human genetics; Phenotype; Population; Indel; Intellectual disability; Gene; Single-nucleotide polymorphism; Genotype","score_opus":0.005573232063548968,"score_gpt":0.2100930684733141,"score_spread":0.20451983640976515,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4391349613","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":[0.99931824,0.000040308616,0.00030636432,0.000007448292,0.0000011456395,0.0000029348375,0.00014429868,0.000017457302,0.00016176737],"genre_scores_gemma":[0.9992889,0.00003366733,0.00029849642,0.000008884429,0.000003381269,0.0000023658993,0.00024675785,0.000008812634,0.00010870653],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9997209,0.00002773229,0.000038320668,0.00008938666,0.00007981299,0.00004376362],"domain_scores_gemma":[0.9994936,0.00012792008,0.00024359892,0.000038530226,0.00002507982,0.00007141518],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00017872266,0.00043772187,0.0002540241,0.001173512,0.000307631,0.00026168162,0.00019000887,0.00032176523,0.0014348173],"category_scores_gemma":[0.0007085172,0.0001490528,0.00022326197,0.0007322319,0.00035382883,0.00012926299,0.00038071894,0.00022725498,0.00025141105],"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":[0.00095013867,0.000100654404,0.65750545,0.00006912527,0.00015058601,0.015704792,0.0004889589,0.00045484139,0.31012323,0.00029227155,0.00033899662,0.013820966],"study_design_scores_gemma":[0.000023955128,0.00030748214,0.909874,0.000012480551,0.00010403361,0.05854449,0.00027165626,0.0017008566,0.027714333,0.00024849875,0.0011760104,0.000022138418],"about_ca_topic_score_codex":0.0006878233,"about_ca_topic_score_gemma":0.00096718455,"teacher_disagreement_score":0.0014348173,"about_ca_system_score_codex":0.000108307766,"about_ca_system_score_gemma":0.00012847054,"threshold_uncertainty_score":0.0047999024},"labels":[],"label_agreement":null},{"id":"W4392706222","doi":"10.1016/j.xhgg.2024.100282","title":"Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications","year":2024,"lang":"en","type":"editorial","venue":"Human Genetics and Genomics Advances","topic":"BRCA gene mutations in cancer","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":"University of British Columbia","funders":"National Institutes of Health; Genome British Columbia; National Human Genome Research Institute; Nationwide Children's Hospital; U.S. Department of Health and Human Services","keywords":"Race (biology); Genetic genealogy; Ethnic group; Demography; Geography; Evolutionary biology; Genealogy; Biology; Anthropology; Sociology; History; Population; Paleontology","score_opus":0.026779273965661016,"score_gpt":0.33888671775011536,"score_spread":0.3121074437844543,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4392706222","genre_codex":"editorial","genre_gemma":"editorial","domain_codex":null,"domain_gemma":"reporting","model_version":"metacan-v3-hybrid-931329e0061c","genre_candidate":"editorial","genre_consensus":"editorial","domain_candidate":"reporting","domain_consensus":null,"prediction_status":"machine_predicted_unvalidated","genre_scores_codex":[0.000030252877,0.0076738778,0.00053783046,0.21268347,0.77632624,0.00003705593,0.00008716823,0.00009862385,0.0025255035],"genre_scores_gemma":[0.00065423705,0.008074963,0.0014781605,0.18755762,0.787927,0.00008214063,0.00007050944,0.00017788306,0.013977417],"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","domain_scores_codex":[0.96890837,0.010198651,0.0055857487,0.002405016,0.012013653,0.0008885488],"domain_scores_gemma":[0.82496434,0.0861797,0.006346295,0.0045769713,0.069597535,0.008335117],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.04681773,0.0029318137,0.003275793,0.006434937,0.005446141,0.0128448885,0.0050829155,0.024356714,0.0078118816],"category_scores_gemma":[0.12900405,0.002021804,0.0024615594,0.0029323297,0.008695303,0.0121645825,0.0033808786,0.045777462,0.012640252],"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":[0.00001252848,0.0000057807447,0.000019801537,0.00008076341,0.0000056583917,0.000022381828,0.000033481043,0.000010702246,0.000020534353,0.0007395989,0.9953531,0.0036957255],"study_design_scores_gemma":[0.000036203637,0.000008808171,0.00013993793,0.0006151907,0.00001793925,0.0001062864,0.000066776855,0.000071520626,0.000050765364,0.0024000292,0.9964652,0.00002140848],"about_ca_topic_score_codex":0.0056278603,"about_ca_topic_score_gemma":0.013774738,"teacher_disagreement_score":0.9531823,"about_ca_system_score_codex":0.006353448,"about_ca_system_score_gemma":0.007795861,"threshold_uncertainty_score":0.24759883},"labels":[],"label_agreement":null},{"id":"W4393120122","doi":"10.1016/j.xhgg.2024.100285","title":"Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"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":"The Wellcome Trust DBT India Alliance; Department of Biotechnology, Ministry of Science and Technology, India; Tata Trusts; Department of Science and Technology, Ministry of Science and Technology, India; Wellcome Trust; Centre for Blood Research, University of British Columbia; Indian Institute of Science","keywords":"Genetics; Biology; Structural variation; Gene; Population; Phenotype; Coding region; Copy-number variation; Genome; Evolutionary biology; Medicine","score_opus":0.007563602662745176,"score_gpt":0.2646337913500077,"score_spread":0.2570701886872625,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4393120122","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":[0.9934917,0.0014488575,0.0009772745,0.0003352727,0.000014026057,0.000013589439,0.0016999822,0.00004143871,0.0019777808],"genre_scores_gemma":[0.99784684,0.0005723796,0.00041930538,0.000097167336,0.00001817505,0.000009122375,0.0008201251,0.000014815889,0.00020203301],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99929965,0.00011865163,0.00005786773,0.00029682167,0.00011375261,0.000113224014],"domain_scores_gemma":[0.99921167,0.0001899073,0.0002626077,0.00013188724,0.00010237678,0.00010159481],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005746747,0.00022896728,0.000336449,0.0016303259,0.000556025,0.001020988,0.0005002734,0.00030607905,0.0020146624],"category_scores_gemma":[0.0015442338,0.00018327062,0.00045532588,0.0028350372,0.0005182173,0.0002998944,0.00078838307,0.000604629,0.00023769827],"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":[0.00016814574,0.000016060598,0.9808708,0.000065744665,0.00023099962,0.0004998427,0.0006942855,0.0002008702,0.00293602,0.0004109473,0.00058472424,0.013321545],"study_design_scores_gemma":[0.0000031665948,0.00002458797,0.9963726,0.000015222094,0.000114371134,0.0009575744,0.00051945564,0.00021981413,0.00024041273,0.0002610731,0.001261301,0.000010523453],"about_ca_topic_score_codex":0.012134885,"about_ca_topic_score_gemma":0.014080968,"teacher_disagreement_score":0.012134885,"about_ca_system_score_codex":0.00030035365,"about_ca_system_score_gemma":0.0004774145,"threshold_uncertainty_score":0.024128497},"labels":[],"label_agreement":null},{"id":"W4393321211","doi":"10.1016/j.xhgg.2024.100287","title":"Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Epigenetics and DNA Methylation","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":"Western University; London Health Sciences Centre","funders":"Manchester Biomedical Research Centre; Janivo Stichting; Ontario Genomics Institute; Children's Hospital Foundation; Government of Canada; Children’s Hospital Foundation; National Institute for Health and Care Research; Genome Canada; Ontario Genomics; Ministero della Salute; Amsterdam University Medical Centers","keywords":"DNA methylation; Computational biology; Methylation; Domain (mathematical analysis); Biology; Genetics; DNA; Evolutionary biology; Medicine; Bioinformatics; Gene; Mathematics; Gene expression","score_opus":0.01799357436335033,"score_gpt":0.29807886484243723,"score_spread":0.2800852904790869,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4393321211","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":[0.99890864,0.00022386025,0.0002263986,0.000011632377,0.0000014399377,0.000010506,0.00016693109,0.000007337868,0.00044332826],"genre_scores_gemma":[0.9988918,0.000085472566,0.00035087156,0.000013986919,0.0000047198723,0.000009337809,0.000251672,0.0000037942636,0.00038833273],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99984443,0.000021501537,0.000019368414,0.00006523612,0.00002846815,0.000020972948],"domain_scores_gemma":[0.99981636,0.000051661646,0.00004869305,0.000016366595,0.000016568145,0.000050324037],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00018164242,0.00038681403,0.0003104536,0.0010476046,0.00026285084,0.00019406987,0.00019390618,0.00028646816,0.0011569886],"category_scores_gemma":[0.0005568468,0.00012238306,0.00018096736,0.00028989013,0.00033843037,0.00013365838,0.00031134873,0.0001589601,0.00023396978],"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":[0.0017795333,0.0001051116,0.80443364,0.00011876653,0.00014986146,0.01657089,0.0009860233,0.00042308457,0.15508787,0.0005948586,0.0003810882,0.019369291],"study_design_scores_gemma":[0.00006215177,0.00028129935,0.93824655,0.00001777673,0.000058557045,0.052059263,0.00028449824,0.0005353193,0.0068851174,0.00027005892,0.0012784482,0.000020984437],"about_ca_topic_score_codex":0.0013466123,"about_ca_topic_score_gemma":0.002005616,"teacher_disagreement_score":0.0013466123,"about_ca_system_score_codex":0.00014333434,"about_ca_system_score_gemma":0.0001563588,"threshold_uncertainty_score":0.0038704872},"labels":[],"label_agreement":null},{"id":"W4393544560","doi":"10.1016/j.xhgg.2024.100289","title":"DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetics and Neurodevelopmental 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":false,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Government of Canada; Amsterdam University Medical Centers; Ontario Genomics; Ontario Genomics Institute; Genome Canada","keywords":"dNaM; TCF4; DNA methylation; Epigenetics; Neurodevelopmental disorder; Missense mutation; Cohort; Methylation; Bioinformatics; Biology; Genetics; Medicine; Internal medicine; Gene; Phenotype; Transcription factor; Gene expression; Enhancer","score_opus":0.019159682880254485,"score_gpt":0.2783961602760565,"score_spread":0.259236477395802,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4393544560","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":[0.9980532,0.00009119063,0.0014260943,0.000010157437,0.0000013289724,0.00000653304,0.00022473933,0.00001818793,0.00016854316],"genre_scores_gemma":[0.9983316,0.000039513154,0.0011295296,0.00000874699,0.000001921367,0.000007625354,0.0002826552,0.0000060066977,0.0001924903],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9998332,0.000028759128,0.000012122875,0.00006673918,0.00004105115,0.000018091476],"domain_scores_gemma":[0.99980515,0.00007088353,0.000048785467,0.000018600946,0.00003505377,0.000021648131],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002197972,0.00023038237,0.00018936013,0.0011004668,0.00015523113,0.00022179101,0.0001273199,0.00021901188,0.00066778465],"category_scores_gemma":[0.00093220244,0.000099688084,0.00015196882,0.000353353,0.00014134368,0.000067743116,0.0002138323,0.00019017037,0.00009846331],"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":[0.00084721483,0.000042800726,0.62083995,0.000035137884,0.0001483743,0.0012012178,0.00037257266,0.001425817,0.3393294,0.0001502522,0.00019511918,0.035412196],"study_design_scores_gemma":[0.00000849014,0.00023246818,0.9354369,0.000006396885,0.000067378394,0.0034362846,0.0001339513,0.009223929,0.050633065,0.00014637095,0.00065907487,0.000015692913],"about_ca_topic_score_codex":0.0024946267,"about_ca_topic_score_gemma":0.0026000598,"teacher_disagreement_score":0.0024946267,"about_ca_system_score_codex":0.00016761263,"about_ca_system_score_gemma":0.00007906495,"threshold_uncertainty_score":0.004960239},"labels":[],"label_agreement":null},{"id":"W4395080506","doi":"10.1016/j.xhgg.2024.100299","title":"A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"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; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Sickkids Research Institute; Hospital for Sick Children; McLaughlin Centre, University of Toronto; University of Toronto; Canada Research Chairs; Canadian Institutes of Health Research; Genome Canada","keywords":"In silico; RNA splicing; Genetics; Intron; Biology; Ensembl; Frameshift mutation; Computational biology; Exon skipping; Exon; Gene; splice; Alternative splicing; RNA; Genome; Genomics","score_opus":0.028319544504466856,"score_gpt":0.39763679275342106,"score_spread":0.36931724824895423,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4395080506","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":[0.86872315,0.002764259,0.112982005,0.0001810581,0.00009016369,0.00032005427,0.00961183,0.0026971342,0.0026303043],"genre_scores_gemma":[0.8841768,0.0007554643,0.09768116,0.00019912576,0.000039274182,0.0002848463,0.015859833,0.00052092003,0.00048257306],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99613416,0.0014731562,0.0003848556,0.0010531194,0.00080109003,0.00015366399],"domain_scores_gemma":[0.99017525,0.0070544286,0.0010183367,0.00082379783,0.00074089534,0.00018730428],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0079860035,0.0015621277,0.0010739532,0.0024151914,0.0005639631,0.0011166619,0.0009043429,0.0006304597,0.001490346],"category_scores_gemma":[0.00995566,0.0004908576,0.0020939251,0.0012538603,0.0005997502,0.0005339345,0.000740777,0.00065054366,0.000742711],"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":[0.0029709053,0.00048567893,0.40491918,0.0039397907,0.0038560645,0.0015324183,0.0005355839,0.0816196,0.35661748,0.0029181533,0.0034346231,0.13717046],"study_design_scores_gemma":[0.00022774981,0.0034681763,0.27657506,0.00047269996,0.0044817547,0.003414459,0.00030901257,0.43341586,0.25709552,0.0050414335,0.015237928,0.00026042908],"about_ca_topic_score_codex":0.00061347807,"about_ca_topic_score_gemma":0.0014768619,"teacher_disagreement_score":0.0079860035,"about_ca_system_score_codex":0.00044415166,"about_ca_system_score_gemma":0.00095413334,"threshold_uncertainty_score":0.04223454},"labels":[],"label_agreement":null},{"id":"W4396623620","doi":"10.1016/j.xhgg.2024.100303","title":"A functional schizophrenia-associated genetic variant near the TSNARE1 and ADGRB1 genes","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","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":"National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Institute of General Medical Sciences; National Human Genome Research Institute; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Schizophrenia (object-oriented programming); Gene; Genetics; Biology; Computational biology; Psychology; Psychiatry","score_opus":0.012897082147764099,"score_gpt":0.250327207005063,"score_spread":0.2374301248572989,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4396623620","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":[0.9972479,0.0002557352,0.0013896904,0.00006391826,0.000008639547,0.000009459907,0.0005411238,0.000031211344,0.00045222076],"genre_scores_gemma":[0.9971343,0.00010280284,0.001793926,0.00003955047,0.0000048431793,0.000011935879,0.000431819,0.00001057775,0.00047012715],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99971634,0.000034232635,0.00003066315,0.00009959439,0.00009181788,0.00002745436],"domain_scores_gemma":[0.99978834,0.000054778433,0.00008423204,0.000018881698,0.000012492091,0.000041257666],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00019035631,0.00057072466,0.00033947264,0.00063273724,0.00025948932,0.00022524898,0.00019678196,0.0004327645,0.002223829],"category_scores_gemma":[0.00051021075,0.00015980583,0.00040604535,0.00037735325,0.00027167914,0.000066764325,0.00034620592,0.0004183121,0.0002480257],"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":[0.00070746004,0.000041937972,0.025468618,0.000064631815,0.000103429695,0.0024299282,0.00013532296,0.0005435478,0.9641666,0.000489417,0.00008817313,0.005760959],"study_design_scores_gemma":[0.00022902475,0.0007348609,0.77030843,0.00007720608,0.00038803965,0.018631127,0.00030712277,0.0059991158,0.19701913,0.0012428495,0.00497993,0.00008317199],"about_ca_topic_score_codex":0.002264365,"about_ca_topic_score_gemma":0.003488672,"teacher_disagreement_score":0.002264365,"about_ca_system_score_codex":0.00029548488,"about_ca_system_score_gemma":0.00027140163,"threshold_uncertainty_score":0.0074394345},"labels":[],"label_agreement":null},{"id":"W4396933810","doi":"10.1016/j.xhgg.2024.100309","title":"DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetics and Neurodevelopmental Disorders","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":"Western University; London Health Sciences Centre","funders":"Manchester Biomedical Research Centre; Università degli Studi di Torino; National Institute for Health and Care Research; Ministero dell’Istruzione, dell’Università e della Ricerca; Ministero dell'Istruzione e del Merito; European Commission; Dipartimenti di Eccellenza","keywords":"DNA methylation; Interpretation (philosophy); Genetics; Computational biology; Methylation; DNA; Psychology; Biology; Medicine; Computer science; Bioinformatics; Gene","score_opus":0.006219517177531798,"score_gpt":0.23245770434428462,"score_spread":0.2262381871667528,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4396933810","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":[0.99536186,0.00049767655,0.0029899804,0.000051985702,0.0000061165774,0.000014932398,0.00029415105,0.000050617786,0.0007325348],"genre_scores_gemma":[0.9980034,0.00016598597,0.0013983906,0.000019142464,0.000007712056,0.000006470438,0.00022785968,0.00000976775,0.00016121639],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9996239,0.00008668538,0.0000514866,0.00012166202,0.000075828364,0.00004043558],"domain_scores_gemma":[0.9995012,0.00019675892,0.00013747794,0.000056261517,0.000064977394,0.000043284774],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00051778625,0.00036624656,0.00026730052,0.0010161046,0.00018808559,0.00034153607,0.00019317854,0.00028731144,0.0014254934],"category_scores_gemma":[0.0018265418,0.00010078711,0.0001924452,0.00042307755,0.00021428519,0.00019595251,0.00045258712,0.00022651104,0.00023937557],"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":[0.00043041995,0.000025660023,0.9009644,0.00005012139,0.00009196414,0.0013590025,0.00026294563,0.00039278073,0.05563737,0.000097554774,0.00017620233,0.040511537],"study_design_scores_gemma":[0.000017633836,0.0002493242,0.9506219,0.000022007242,0.00009279101,0.008224239,0.00025772405,0.0032179474,0.035210177,0.00046801864,0.0016040327,0.0000141869805],"about_ca_topic_score_codex":0.0009686822,"about_ca_topic_score_gemma":0.0015547652,"teacher_disagreement_score":0.0014254934,"about_ca_system_score_codex":0.00014761956,"about_ca_system_score_gemma":0.000112328205,"threshold_uncertainty_score":0.004768789},"labels":[],"label_agreement":null},{"id":"W4399446177","doi":"10.1016/j.xhgg.2024.100316","title":"Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders","year":2024,"lang":"en","type":"review","venue":"Human Genetics and Genomics Advances","topic":"Genetics and Neurodevelopmental 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":"Discovery Centre","funders":"Agència de Gestió d'Ajuts Universitaris i de Recerca; Generalitat de Catalunya; Wellcome Trust; Hartwell Foundation; Simons Foundation","keywords":"Identification (biology); Copy-number variation; Genetics; Gene; Biology; Computational biology; Medicine; Genome","score_opus":0.015416461141982266,"score_gpt":0.2747248566266427,"score_spread":0.25930839548466045,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4399446177","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":[0.98281384,0.009818534,0.0036015527,0.00018781322,0.000066077315,0.000047254816,0.0023131075,0.00009199869,0.0010598239],"genre_scores_gemma":[0.99608094,0.0011872257,0.0011354788,0.00007101398,0.0000490314,0.000020933416,0.0012099543,0.000029889063,0.00021568491],"study_design_codex":"observational","study_design_gemma":"not_applicable","domain_scores_codex":[0.9978387,0.00033429888,0.00023872657,0.0010219385,0.0003794014,0.0001868868],"domain_scores_gemma":[0.99784386,0.0011157099,0.0005590884,0.00019986615,0.00013079458,0.00015057222],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0015362083,0.0008217503,0.0012677013,0.0030668993,0.0004962199,0.0010978485,0.00077839714,0.0008539712,0.0020845155],"category_scores_gemma":[0.005003711,0.0003815244,0.002495594,0.003324919,0.00048106653,0.0005460615,0.0008726673,0.0006144623,0.00022988385],"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":[0.0010772864,0.000057655205,0.9295338,0.0005483686,0.008456924,0.005442431,0.00034430635,0.0014865397,0.026833089,0.00066344603,0.00084079214,0.024715345],"study_design_scores_gemma":[0.00016318145,0.00018731716,0.97235245,0.00011667025,0.009391184,0.006226159,0.00016760315,0.0034058995,0.0039118044,0.0011835608,0.002847435,0.000046781708],"about_ca_topic_score_codex":0.0039577093,"about_ca_topic_score_gemma":0.005501713,"teacher_disagreement_score":0.0039577093,"about_ca_system_score_codex":0.00040737345,"about_ca_system_score_gemma":0.00053883315,"threshold_uncertainty_score":0.0081243515},"labels":[],"label_agreement":null},{"id":"W4401503473","doi":"10.1016/j.xhgg.2024.100340","title":"Copy-number variants differ in frequency across genetic ancestry groups","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genomic variations and chromosomal abnormalities","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":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Mental Health; Simons Foundation Autism Research Initiative","keywords":"Copy-number variation; Genetics; Biology; Genetic genealogy; Evolutionary biology; Allele frequency; Genotype; Gene; Population; Genome; Demography; Sociology","score_opus":0.012339404744580777,"score_gpt":0.2812995748213163,"score_spread":0.2689601700767355,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4401503473","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":[0.9974571,0.00035537317,0.00067712343,0.000036155307,0.0000056394833,0.000008364062,0.00045304414,0.000020053609,0.000987135],"genre_scores_gemma":[0.9987476,0.0000959231,0.00034721073,0.000026917349,0.000005685475,0.000008933962,0.000468648,0.000012243136,0.00028669424],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9988373,0.00026529082,0.00011949294,0.00045379132,0.00019551824,0.0001285628],"domain_scores_gemma":[0.99801207,0.00091981504,0.0004494295,0.0002937494,0.00020474847,0.00012016596],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007255023,0.00019844402,0.00045139756,0.0015637855,0.0003088117,0.00061168213,0.00029514587,0.00040914488,0.002800939],"category_scores_gemma":[0.0055905245,0.00014934059,0.0003305004,0.0008430109,0.00040281282,0.0003301776,0.00069626054,0.00025362748,0.00038425543],"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":[0.00073491875,0.000031856947,0.9085004,0.000056031797,0.0005757498,0.0007654878,0.0012121615,0.00022653912,0.07082717,0.00062059506,0.0003430037,0.016106186],"study_design_scores_gemma":[0.000011167163,0.000076855926,0.9961039,0.000008287499,0.00007385765,0.0009581249,0.00013215348,0.00019587275,0.0014423652,0.00040365598,0.0005846838,0.000009034694],"about_ca_topic_score_codex":0.003163064,"about_ca_topic_score_gemma":0.0035605528,"teacher_disagreement_score":0.003163064,"about_ca_system_score_codex":0.00018923973,"about_ca_system_score_gemma":0.000103056314,"threshold_uncertainty_score":0.009370089},"labels":[],"label_agreement":null},{"id":"W4401822209","doi":"10.1016/j.xhgg.2024.100344","title":"The performance of AlphaMissense to identify genes influencing disease","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genomics and Rare Diseases","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":"McGill University Health Centre; McGill University; Jewish General Hospital","funders":"Medical Research Council; Fonds de Recherche du Québec - Santé; National Institutes of Health; Fondation de l'Hôpital général juif; Medical Research Council Canada; Public Health Agency; European Commission; TD Bank; King's College London; Jewish General Hospital; National Institute for Health and Care Research; Wellcome Trust; Canada Foundation for Innovation; Génome Québec; Public Health Agency of Canada; McGill University; Canadian Institutes of Health Research; Compute Canada; Japan Society for the Promotion of Science; Cancer Research UK","keywords":"Gene; Genetics; Biology; Disease; Computational biology; Evolutionary biology; Medicine; Internal medicine","score_opus":0.0077716291809660915,"score_gpt":0.28405405447502025,"score_spread":0.27628242529405417,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4401822209","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":[0.9002995,0.0025298798,0.0865335,0.0007075354,0.00020353906,0.00011808338,0.0016219434,0.004310071,0.0036759179],"genre_scores_gemma":[0.91511494,0.00036915982,0.078904375,0.00036461276,0.00009370046,0.00009846413,0.003578989,0.00025283833,0.0012228726],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9972868,0.00090121274,0.00027107148,0.0007769721,0.00054349896,0.0002203827],"domain_scores_gemma":[0.9862135,0.0107245995,0.0008459154,0.0009308646,0.0009439006,0.0003412417],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0069413492,0.0013724039,0.0013149413,0.0027924627,0.0007878919,0.0020540222,0.001078222,0.0015828093,0.0016974662],"category_scores_gemma":[0.0131544955,0.00041488645,0.0017679604,0.0012112511,0.0006138582,0.0013461001,0.0013469915,0.0011424093,0.00087453396],"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":[0.008009554,0.000730223,0.41846278,0.00066544145,0.0021824166,0.0009318866,0.0006150455,0.11560762,0.048211984,0.0032679995,0.007582644,0.39373243],"study_design_scores_gemma":[0.00039453205,0.0020333081,0.06144328,0.00010204482,0.00047461607,0.002372869,0.00025689346,0.8946515,0.024260301,0.008164998,0.0057212757,0.00012448979],"about_ca_topic_score_codex":0.0015992267,"about_ca_topic_score_gemma":0.0020534955,"teacher_disagreement_score":0.0069413492,"about_ca_system_score_codex":0.0004061216,"about_ca_system_score_gemma":0.00092266966,"threshold_uncertainty_score":0.036709785},"labels":[],"label_agreement":null},{"id":"W4402025728","doi":"10.1016/j.xhgg.2024.100349","title":"Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Autophagy in Disease and Therapy","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":"Université de Montréal; Collège Montmorency","funders":"Ministero dell'Istruzione e del Merito; Fondazione Telethon; National Institute of Neurological Disorders and Stroke; U.S. Department of Health and Human Services; National Institutes of Health; Universitätsklinikum Hamburg-Eppendorf; Health Resources and Services Administration; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Fondazione Bambino Gesù; National Institute of Child Health and Human Development; Ministero dell’Istruzione, dell’Università e della Ricerca; Ministero della Salute","keywords":"Phenotype; Autophagy; Cell biology; Biology; Function (biology); Autophagosome; Genetics; Computational biology; Gene","score_opus":0.01642224199045167,"score_gpt":0.287651379932893,"score_spread":0.27122913794244136,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4402025728","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":[0.995893,0.0006178316,0.0018868884,0.000117236574,0.000035970363,0.000026054373,0.0003099395,0.00007435895,0.0010388403],"genre_scores_gemma":[0.99718577,0.00024137726,0.0011460357,0.00006985825,0.000017370181,0.000015001132,0.00021363601,0.000020415864,0.0010905484],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.99972254,0.000028009135,0.000035680685,0.000105293264,0.00006465024,0.00004397111],"domain_scores_gemma":[0.9998735,0.000031478015,0.000033135828,0.000009773891,0.000008337424,0.00004376742],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001040746,0.0008567341,0.00035039368,0.00050092733,0.00041605937,0.0002465648,0.00027969398,0.0006151444,0.0023490642],"category_scores_gemma":[0.0002564804,0.00014078425,0.00026083944,0.00025496533,0.00046572508,0.00014449198,0.00050470745,0.000443829,0.0002651628],"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":[0.00038253822,0.00018106509,0.021339688,0.00010991352,0.00009911741,0.080303274,0.0004408705,0.00038515724,0.881731,0.00089915656,0.00054083945,0.013587442],"study_design_scores_gemma":[0.00012406195,0.0010908558,0.1579517,0.000061023482,0.0002509619,0.54060054,0.00082073204,0.0029154532,0.2831993,0.0010005159,0.011908864,0.0000759803],"about_ca_topic_score_codex":0.00079294405,"about_ca_topic_score_gemma":0.0012901385,"teacher_disagreement_score":0.0023490642,"about_ca_system_score_codex":0.000186394,"about_ca_system_score_gemma":0.00014867763,"threshold_uncertainty_score":0.007858455},"labels":[],"label_agreement":null},{"id":"W4404032139","doi":"10.1016/j.xhgg.2024.100380","title":"CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"route_ca_aff":true,"route_ca_fund":true,"route_ca_venue":false,"route_about_ca":false,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Japan Society for the Promotion of Science; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; ZonMw; Ontario Genomics Institute; Government of Canada; Amsterdam University Medical Centers; Genome Canada; Ontario Genomics; Citizens United for Research in Epilepsy","keywords":"Phenotype; Identification (biology); Clinical phenotype; Genetics; Biology; Gene","score_opus":0.0076361360341275575,"score_gpt":0.2742556034280083,"score_spread":0.26661946739388076,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4404032139","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":[0.99857175,0.0002043503,0.00051011506,0.000036472433,0.0000070682786,0.000035162644,0.00015602354,0.000018461009,0.00046059745],"genre_scores_gemma":[0.9977463,0.00020687527,0.000997077,0.00007706609,0.000012796995,0.00003140296,0.00034405847,0.000009413416,0.00057496486],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99969757,0.000024952924,0.000036540514,0.0001305374,0.00005840845,0.000051988955],"domain_scores_gemma":[0.9997336,0.000047511272,0.00005444862,0.00003012688,0.00003399732,0.00010034366],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002224242,0.0009060447,0.0004128416,0.0010750638,0.00059419754,0.0003179056,0.00029295555,0.0005579037,0.0010376326],"category_scores_gemma":[0.0013748857,0.00025148105,0.0002983152,0.00047564297,0.0005345051,0.0002556586,0.0007653448,0.00032980007,0.00024426077],"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":[0.00070442655,0.00057697896,0.6695886,0.00011060534,0.000094864416,0.22538984,0.002359692,0.00041427868,0.05816759,0.00035510084,0.0008671005,0.041370954],"study_design_scores_gemma":[0.000050494713,0.0010766572,0.70297796,0.000027408294,0.00008221332,0.28195047,0.0005294431,0.0007833543,0.008664254,0.00023607133,0.0035746899,0.000046960795],"about_ca_topic_score_codex":0.0018805213,"about_ca_topic_score_gemma":0.0020288096,"teacher_disagreement_score":0.0018805213,"about_ca_system_score_codex":0.0003801972,"about_ca_system_score_gemma":0.000229342,"threshold_uncertainty_score":0.0037391782},"labels":[],"label_agreement":null},{"id":"W4404727330","doi":"10.1016/j.xhgg.2024.100387","title":"MGA-related syndrome: A proposed novel disorder","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Neurofibromatosis and Schwannoma Cases","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":"University of Toronto; Mount Sinai Hospital","funders":"","keywords":"Computer science; Medicine; Psychology","score_opus":0.014342453861135248,"score_gpt":0.2708171695430746,"score_spread":0.25647471568193936,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4404727330","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":[0.94928825,0.007169793,0.009535062,0.005060398,0.00044192752,0.0001885891,0.0006985497,0.0008752122,0.026742216],"genre_scores_gemma":[0.9837646,0.0020672274,0.006672105,0.0008810249,0.00048185524,0.000068420646,0.00036689194,0.000034676177,0.005663104],"study_design_codex":"case_report","study_design_gemma":"case_report","domain_scores_codex":[0.9997482,0.00002566723,0.000023414606,0.00009180566,0.000052644846,0.00005827659],"domain_scores_gemma":[0.999796,0.00003472008,0.000071696544,0.000013621134,0.000018210168,0.00006570417],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00013068777,0.0016322285,0.00062742986,0.0011968178,0.0010028435,0.0009629752,0.0010728994,0.0022984268,0.0032579543],"category_scores_gemma":[0.00091826357,0.00024181264,0.00043391803,0.0009637907,0.001563645,0.0008308337,0.0011042068,0.00076955365,0.0009470034],"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":[0.00020191309,0.0001265468,0.030603224,0.0002017233,0.00006618004,0.87302285,0.0007177297,0.00044954938,0.051951528,0.015719049,0.0030012405,0.023938475],"study_design_scores_gemma":[0.000056028694,0.00013832893,0.015494485,0.000042325682,0.0000565473,0.96743673,0.00018050753,0.00095750013,0.004127564,0.0029246851,0.008564277,0.000021072748],"about_ca_topic_score_codex":0.0010819178,"about_ca_topic_score_gemma":0.0015127704,"teacher_disagreement_score":0.0032579543,"about_ca_system_score_codex":0.00049135665,"about_ca_system_score_gemma":0.00071642286,"threshold_uncertainty_score":0.010898948},"labels":[],"label_agreement":null},{"id":"W4406741911","doi":"10.1016/j.xhgg.2025.100409","title":"Caution when using network partners for target identification in drug discovery","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Computational Drug Discovery Methods","field":"Computer Science","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":"McGill University Health Centre; McGill University; Jewish General Hospital","funders":"Medical Research Council; Fonds de Recherche du Québec - Santé; National Institutes of Health; Fondation de l'Hôpital général juif; Medical Research Council Canada; Public Health Agency; European Commission; King's College London; Jewish General Hospital; National Institute for Health and Care Research; Public Health Agency of Canada; McGill University; Génome Québec; Canada Foundation for Innovation; Canadian Institutes of Health Research; Compute Canada; Cancer Research UK; Wellcome Trust","keywords":"Drug discovery; Identification (biology); Drug; Computational biology; Computer science; Data science; Medicine; Pharmacology; Bioinformatics; Biology","score_opus":0.0284690901370335,"score_gpt":0.3528599769450116,"score_spread":0.32439088680797806,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4406741911","genre_codex":"methods","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":[0.051825423,0.058177017,0.54654,0.24142593,0.029474398,0.0030907246,0.005059054,0.013292369,0.051115025],"genre_scores_gemma":[0.23439172,0.010665727,0.64315546,0.088168025,0.0043727453,0.0047572786,0.0017009097,0.0022288975,0.010559174],"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","domain_scores_codex":[0.7202858,0.20779766,0.021747965,0.009742621,0.038634166,0.0017917772],"domain_scores_gemma":[0.61044145,0.28155914,0.017128777,0.04809084,0.03859917,0.004180734],"candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.22685952,0.0016240227,0.004247871,0.005158047,0.0027807464,0.010929222,0.006947252,0.004519477,0.0040474855],"category_scores_gemma":[0.39089018,0.0017606274,0.00270029,0.0050149476,0.005907178,0.009912008,0.007757056,0.011912691,0.006205002],"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":[0.0047614924,0.00044084064,0.050005715,0.010326067,0.00290713,0.003593015,0.012105738,0.0055005196,0.019765826,0.06902624,0.31590784,0.5056595],"study_design_scores_gemma":[0.00061052863,0.00091328856,0.018342119,0.0059774835,0.001230129,0.0062020463,0.0034351165,0.023532236,0.0307985,0.10910968,0.79931194,0.0005368806],"about_ca_topic_score_codex":0.002989163,"about_ca_topic_score_gemma":0.006266267,"teacher_disagreement_score":0.22685952,"about_ca_system_score_codex":0.0021045723,"about_ca_system_score_gemma":0.0041271835,"threshold_uncertainty_score":0.95341986},"labels":[],"label_agreement":null},{"id":"W4406864822","doi":"10.1016/j.xhgg.2025.100410","title":"Context-specific eQTLs provide deeper insight into causal genes underlying shared genetic architecture of COVID-19 and idiopathic pulmonary fibrosis","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","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":"St. Paul's Hospital; University of British Columbia; Institut universitaire de cardiologie et de pneumologie de Québec","funders":"National Institute of Allergy and Infectious Diseases; National Institute of General Medical Sciences; Triangle Comparative and Evolutionary Medicine Center, Duke University","keywords":"Context (archaeology); Coronavirus disease 2019 (COVID-19); Genetic architecture; Gene; Genome-wide association study; Pulmonary fibrosis; Biology; Computational biology; Disease; Medicine; Genetics; Fibrosis; Quantitative trait locus; Infectious disease (medical specialty); Pathology; Genotype","score_opus":0.022633178911032763,"score_gpt":0.29373352405801706,"score_spread":0.2711003451469843,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4406864822","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":[0.9682815,0.0024323273,0.023202771,0.00040610795,0.000044263812,0.000029039824,0.0035983135,0.00018815986,0.0018175917],"genre_scores_gemma":[0.99535674,0.00022298915,0.0031313102,0.00015358155,0.000018402992,0.000016177006,0.00080005615,0.000040204686,0.00026046962],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9986852,0.00022146675,0.00011212091,0.0006700232,0.00014971063,0.00016145888],"domain_scores_gemma":[0.99800414,0.0011615915,0.00043129313,0.000244959,0.00007331354,0.00008476851],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009999198,0.000513356,0.0006659165,0.0014024416,0.000412671,0.0008691202,0.00044249423,0.0006669505,0.005342394],"category_scores_gemma":[0.0025953231,0.0002842937,0.0012824856,0.0014410081,0.00078541104,0.00044933087,0.0009461986,0.00094143074,0.00030307713],"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":[0.0012371191,0.00007504459,0.73031753,0.00044844623,0.003046247,0.0029319006,0.00051860925,0.0031089578,0.22661953,0.0046078777,0.00062027416,0.0264684],"study_design_scores_gemma":[0.00006324405,0.00019809084,0.97270864,0.00006271814,0.0012834794,0.0019074545,0.00021650568,0.005957246,0.008948982,0.006092226,0.0025159162,0.00004549351],"about_ca_topic_score_codex":0.0027702502,"about_ca_topic_score_gemma":0.0042158663,"teacher_disagreement_score":0.005342394,"about_ca_system_score_codex":0.00033580922,"about_ca_system_score_gemma":0.0002827985,"threshold_uncertainty_score":0.017872095},"labels":[],"label_agreement":null},{"id":"W4407943090","doi":"10.1016/j.xhgg.2025.100421","title":"De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"RNA modifications and cancer","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":"McGill University Health Centre","funders":"","keywords":"Missense mutation; Genetics; Biology; Medicine; Mutation; Gene","score_opus":0.008262018601506948,"score_gpt":0.2630549759230341,"score_spread":0.2547929573215272,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4407943090","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":[0.9983975,0.00014285842,0.00063587795,0.00008629184,0.0000071901536,0.000011855645,0.00009012047,0.000023040726,0.0006052194],"genre_scores_gemma":[0.9988888,0.00006353587,0.00066260155,0.000046758152,0.0000123888985,0.0000048024535,0.0000586891,0.0000075332177,0.00025497784],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.9994393,0.00007672164,0.000074699,0.00021304618,0.00010831358,0.00008791953],"domain_scores_gemma":[0.9995121,0.00017437799,0.00015322538,0.000044394117,0.00003060022,0.00008529847],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002808012,0.0008796376,0.00037368073,0.0014595232,0.0007342397,0.00033501108,0.0003096115,0.0012083695,0.0016654887],"category_scores_gemma":[0.0013741906,0.00031862987,0.00042951564,0.0005384768,0.00070320634,0.0002619025,0.000583291,0.0005284044,0.00029044758],"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":[0.0005302512,0.00016130284,0.38208202,0.00008149046,0.00014620158,0.50450045,0.001979266,0.00063880126,0.09031801,0.0005317255,0.0005204042,0.018510154],"study_design_scores_gemma":[0.000030407313,0.0004436377,0.24674504,0.000026613932,0.00012543934,0.73687303,0.0005353801,0.0008275488,0.012743459,0.00031613826,0.0012853431,0.00004801705],"about_ca_topic_score_codex":0.0013859775,"about_ca_topic_score_gemma":0.002000165,"teacher_disagreement_score":0.0016654887,"about_ca_system_score_codex":0.0002627421,"about_ca_system_score_gemma":0.00019315882,"threshold_uncertainty_score":0.0055716634},"labels":[],"label_agreement":null},{"id":"W4409912100","doi":"10.1016/j.xhgg.2025.100445","title":"Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis","year":2025,"lang":"en","type":"review","venue":"Human Genetics and Genomics Advances","topic":"Lung Cancer Research Studies","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":"Toronto General Hospital; Princess Margaret Cancer Centre; Canada Research Chairs; Ontario Institute for Cancer Research; St. Michael's Hospital; Western University","funders":"National Cancer Institute; National Institutes of Health; Terry Fox Research Institute; Memorial Sloan-Kettering Cancer Center; University of Toronto; Canada Foundation for Innovation; Princess Margaret Cancer Foundation; Canadian Institutes of Health Research; Cancer Research Society","keywords":"Meta-analysis; Germline; Lung cancer; Biology; Cancer; Genetics; Medicine; Oncology; Internal medicine; Gene","score_opus":0.07090975319869,"score_gpt":0.41188827442225434,"score_spread":0.3409785212235643,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4409912100","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":[0.0039517735,0.99419445,0.00054258836,0.00019646244,0.000115391034,0.00018045901,0.00057909405,0.000023770719,0.00021596035],"genre_scores_gemma":[0.15285838,0.8412648,0.0024895153,0.00079653173,0.00027459228,0.0009845388,0.0009956518,0.000033861394,0.00030220207],"study_design_codex":"meta_analysis","study_design_gemma":"meta_analysis","domain_scores_codex":[0.9918791,0.004027033,0.0021144096,0.0008733943,0.00077593705,0.0003302283],"domain_scores_gemma":[0.98517954,0.011288854,0.0017590153,0.0004436234,0.0011431703,0.00018566071],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.012190142,0.0028944418,0.016682513,0.0069514206,0.00064050406,0.0031045985,0.0020258394,0.0020332846,0.003386782],"category_scores_gemma":[0.028225008,0.0015651166,0.03883703,0.008810297,0.0005721268,0.0016104195,0.0014741247,0.0016657622,0.00033148366],"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":[0.0011612474,0.000018150306,0.004597157,0.3558555,0.62561774,0.00016023373,0.00007712339,0.00074256427,0.00021975081,0.00015876662,0.00072870404,0.010663037],"study_design_scores_gemma":[0.00027019158,0.00012448177,0.0033721044,0.023187695,0.9710726,0.00010590415,0.000038841063,0.00017304007,0.000079977406,0.00017495314,0.0013804447,0.000019742442],"about_ca_topic_score_codex":0.008887907,"about_ca_topic_score_gemma":0.019967373,"teacher_disagreement_score":0.016682513,"about_ca_system_score_codex":0.002531971,"about_ca_system_score_gemma":0.0036449202,"threshold_uncertainty_score":0.06446844},"labels":[],"label_agreement":null},{"id":"W4410083423","doi":"10.1016/j.xhgg.2025.100448","title":"Aortic valve-specific genes dysregulated in calcific aortic valve stenosis as potential biomarkers and therapeutic targets","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Cardiac Valve Diseases and Treatments","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 Laval; Institut universitaire de cardiologie et de pneumologie de Québec","funders":"Canadian Institutes of Health Research; Université Laval; Fondation Institut Universitaire de Cardiologie et de Pneumologie de Québec; Heart and Stroke Foundation of Canada","keywords":"Cardiology; Stenosis; Internal medicine; Aortic valve; Medicine; Aortic valve stenosis","score_opus":0.01229930478866974,"score_gpt":0.31083771497391727,"score_spread":0.2985384101852475,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4410083423","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":[0.9896449,0.00755992,0.0011215742,0.00018473662,0.00003348792,0.000018655493,0.0006582708,0.000028757651,0.0007495961],"genre_scores_gemma":[0.99330294,0.0021313298,0.0031444372,0.00015735655,0.0000311019,0.000025381269,0.0006615902,0.000007304341,0.00053855474],"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","domain_scores_codex":[0.99987936,0.000026656997,0.000009355684,0.00003615339,0.000030022706,0.000018431738],"domain_scores_gemma":[0.99982494,0.00006303356,0.00006114325,0.000008669277,0.000015473224,0.000026701726],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002491009,0.00020543857,0.00034188075,0.00063265767,0.00012726989,0.00042647813,0.00013159162,0.00025023424,0.0005421692],"category_scores_gemma":[0.00028303693,0.000096076204,0.00016171626,0.00061947014,0.00025698682,0.000100019264,0.00014174049,0.00025760036,0.000106494146],"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":[0.0021008698,0.00012770794,0.16456233,0.00048092523,0.00017149831,0.00096503505,0.00021914688,0.0008289128,0.7929591,0.00040347676,0.00046688397,0.03671413],"study_design_scores_gemma":[0.00006344851,0.0005222634,0.9313787,0.000059352846,0.00024151118,0.0017080168,0.0002657918,0.0023401997,0.058864728,0.00068017596,0.0038588943,0.000016785954],"about_ca_topic_score_codex":0.00032159287,"about_ca_topic_score_gemma":0.0006141994,"teacher_disagreement_score":0.00063265767,"about_ca_system_score_codex":0.0001396763,"about_ca_system_score_gemma":0.00017030722,"threshold_uncertainty_score":0.0018137097},"labels":[],"label_agreement":null},{"id":"W4410878401","doi":"10.1016/j.xhgg.2025.100462","title":"Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","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":"DuPont (Canada); Roche (Canada)","funders":"Horizon Therapeutics; F. Hoffmann-La Roche; Roche","keywords":"General partnership; Rare disease; Open science; Engineering ethics; Disease; Knowledge management; Political science; Sociology; Medicine; Public relations; Engineering; Computer science; Physics; Pathology","score_opus":0.16588352666076203,"score_gpt":0.43429528680198765,"score_spread":0.2684117601412256,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4410878401","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":[0.009736228,0.0064695138,0.043385554,0.9278117,0.0042850925,0.00033493334,0.0009248913,0.0003036212,0.006748547],"genre_scores_gemma":[0.38385835,0.009051862,0.2758027,0.30404463,0.011833959,0.005188533,0.0039560837,0.0009453572,0.005318586],"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"not_applicable","domain_scores_codex":[0.71718407,0.22289415,0.011395068,0.014953771,0.02579935,0.007773622],"domain_scores_gemma":[0.23414859,0.6455455,0.013199043,0.045930583,0.028709024,0.03246728],"candidate_categories":["metaresearch","open_science"],"consensus_categories":[],"category_scores_codex":[0.3674611,0.0010207488,0.0025006402,0.0047966097,0.011156443,0.030015513,0.007039479,0.016866036,0.008145216],"category_scores_gemma":[0.50937515,0.0014857167,0.0028734433,0.0052630412,0.021417564,0.045510117,0.043418016,0.03194346,0.002485015],"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":[0.0008391641,0.0004089379,0.016826734,0.0022128625,0.0006249724,0.0011889247,0.024984412,0.0035881447,0.00074365496,0.5480556,0.23602566,0.16450095],"study_design_scores_gemma":[0.00030098707,0.00018753253,0.0022802127,0.0018636563,0.00006818835,0.00044956355,0.010648833,0.0038986115,0.00037090425,0.7643875,0.21534738,0.0001965328],"about_ca_topic_score_codex":0.00787784,"about_ca_topic_score_gemma":0.009284236,"teacher_disagreement_score":0.9929605,"about_ca_system_score_codex":0.0084813805,"about_ca_system_score_gemma":0.034928113,"threshold_uncertainty_score":0.7800331},"labels":[],"label_agreement":null},{"id":"W4412523349","doi":"10.1016/j.xhgg.2025.100481","title":"Comprehensive genotype-phenotype analysis in POLR3-related disorders","year":2025,"lang":"en","type":"review","venue":"Human Genetics and Genomics Advances","topic":"Molecular Biology Techniques and Applications","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":"Montreal Neurological Institute and Hospital; Université Laval; Centre hospitalier de l'Université Laval; Mount Sinai Hospital; McGill University; McGill University Health Centre","funders":"Natural Sciences and Engineering Research Council of Canada; Fonds de Recherche du Québec - Santé; Fondation du Grand défi Pierre Lavoie; Fondation de l'Hôpital de Montréal pour enfants; Faculty of Medicine, McGill University; Canadian Institutes of Health Research; Université Laval","keywords":"Phenotype; Biology; Genotype; Genetics; Pleiotropy; Genotype-phenotype distinction; Gene; Bioinformatics; Computational biology","score_opus":0.011652564721945577,"score_gpt":0.3244005751706954,"score_spread":0.31274801044874984,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4412523349","genre_codex":"dataset","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":[0.38006318,0.011733001,0.018755699,0.00079449103,0.00018614448,0.00039961367,0.5792719,0.0018977304,0.00689816],"genre_scores_gemma":[0.3098358,0.003960019,0.026716108,0.000658809,0.00012308342,0.0008780806,0.6560526,0.00054369704,0.0012318741],"study_design_codex":"observational","study_design_gemma":"not_applicable","domain_scores_codex":[0.996439,0.0005719456,0.0009814597,0.0013560997,0.00047889675,0.0001725469],"domain_scores_gemma":[0.98965794,0.0048387265,0.0021625268,0.0016961772,0.0011432457,0.0005014375],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0026991065,0.0006975832,0.0015239815,0.008270436,0.0006114906,0.0017071611,0.0011211081,0.0009140348,0.0063444986],"category_scores_gemma":[0.011363745,0.0003805342,0.0012026002,0.00649478,0.0002971174,0.0007687335,0.0019055298,0.00067424926,0.0024478328],"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":[0.0025572334,0.00039613075,0.63472027,0.009686134,0.0035520399,0.010014073,0.001094352,0.007073101,0.02408929,0.0042179744,0.10860071,0.19399872],"study_design_scores_gemma":[0.0003896608,0.0003910248,0.70411164,0.0023329384,0.002943134,0.02455446,0.00073147716,0.0063502016,0.01029696,0.0069386098,0.24070431,0.00025556362],"about_ca_topic_score_codex":0.002322367,"about_ca_topic_score_gemma":0.0042244485,"teacher_disagreement_score":0.008270436,"about_ca_system_score_codex":0.00048574954,"about_ca_system_score_gemma":0.0017809846,"threshold_uncertainty_score":0.02122444},"labels":[],"label_agreement":null},{"id":"W4413094602","doi":"10.1016/j.xhgg.2025.100491","title":"Early-onset multivalvular disease caused by a missense variant in lamin A/C","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","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":"Université Laval; Institut universitaire de cardiologie et de pneumologie de Québec","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Université Laval; Heart and Stroke Foundation of Canada","keywords":"LMNA; Progeria; Missense mutation; Sanger sequencing; Lamin; Cardiomyopathy; Exome sequencing; Genetics; Medicine; Biology; Bioinformatics; Internal medicine; Phenotype; Heart failure; Mutation; Gene","score_opus":0.004255495752434976,"score_gpt":0.2365755406924806,"score_spread":0.23232004494004563,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413094602","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":[0.99504256,0.0020555677,0.0012173988,0.00013020592,0.000046664456,0.000012683994,0.0001778401,0.000055476015,0.0012616635],"genre_scores_gemma":[0.99788684,0.00049183937,0.0005394048,0.0000704486,0.000033222295,0.0000025085358,0.00008806369,0.0000071926465,0.00088053907],"study_design_codex":"case_report","study_design_gemma":"observational","domain_scores_codex":[0.999908,0.000010038878,0.000013871088,0.00003430732,0.000014555045,0.000019360446],"domain_scores_gemma":[0.9997956,0.00005791236,0.00007002245,0.000012207037,0.000012296842,0.0000518923],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000096465534,0.00042660054,0.00025164895,0.0003858741,0.00042811333,0.00021412937,0.00019403637,0.000588242,0.0012936674],"category_scores_gemma":[0.00041027536,0.00013499895,0.00022647344,0.00026965135,0.00028447944,0.00015671166,0.0002485574,0.0003529539,0.0002566247],"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":[0.00039609955,0.00009815116,0.047197133,0.00019177627,0.00006298416,0.7980966,0.00041040347,0.00012984638,0.1407197,0.00032173656,0.00040950216,0.011966122],"study_design_scores_gemma":[0.000023247607,0.0002737758,0.085910425,0.000035938123,0.000077011595,0.88587767,0.00021826645,0.0002400118,0.02395792,0.0002396399,0.0031254191,0.000020566364],"about_ca_topic_score_codex":0.0005065261,"about_ca_topic_score_gemma":0.00073399453,"teacher_disagreement_score":0.0012936674,"about_ca_system_score_codex":0.00019111161,"about_ca_system_score_gemma":0.00015926505,"threshold_uncertainty_score":0.0043277144},"labels":[],"label_agreement":null},{"id":"W4413841265","doi":"10.1016/j.xhgg.2025.100499","title":"Whole-genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","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 de Montréal; Montreal Heart Institute","funders":"National Human Genome Research Institute; University of Michigan; National Institute on Drug Abuse; National Heart, Lung, and Blood Institute; Fonds de recherche du Québec; National Institute of Mental Health","keywords":"Schizophrenia (object-oriented programming); Bipolar disorder; Association (psychology); Genome-wide association study; Sequence (biology); Whole genome sequencing; Genetic association; Psychology; Genetics; Psychiatry; Genome; Biology; Single-nucleotide polymorphism; Genotype; Gene; Psychotherapist; Cognition","score_opus":0.008137202049135001,"score_gpt":0.2637023866756438,"score_spread":0.2555651846265088,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4413841265","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":[0.99904853,0.00014557765,0.00035621962,0.000021121623,0.0000031913921,0.000005784146,0.00021287861,0.0000072819025,0.00019946611],"genre_scores_gemma":[0.99861455,0.0000957471,0.0008180686,0.000023686936,0.000004503398,0.0000093772,0.00027998764,0.000006225087,0.00014785654],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.9995104,0.00019393758,0.000030914227,0.00015597403,0.00005297925,0.000055762317],"domain_scores_gemma":[0.9995328,0.00014222083,0.00015354877,0.00006450354,0.000042526546,0.00006429706],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00091940037,0.00033076768,0.0002630336,0.0013640735,0.0006117792,0.00032124692,0.00018132833,0.0002891377,0.002214329],"category_scores_gemma":[0.0020290483,0.00017698157,0.0004959877,0.0012831148,0.00031467187,0.00014547545,0.0003309229,0.00025739806,0.00013841475],"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":[0.001164305,0.000060103826,0.9618765,0.000042610853,0.0006267958,0.00045271634,0.00046500727,0.00043316436,0.024305431,0.00022899931,0.00026546433,0.010078955],"study_design_scores_gemma":[0.000024912817,0.000070256254,0.9976568,0.00000879377,0.00012951034,0.00024790084,0.00011070922,0.0006523303,0.0006294848,0.00013109547,0.0003329968,0.00000518033],"about_ca_topic_score_codex":0.010287402,"about_ca_topic_score_gemma":0.014454283,"teacher_disagreement_score":0.010287402,"about_ca_system_score_codex":0.00018231514,"about_ca_system_score_gemma":0.0002748721,"threshold_uncertainty_score":0.020455062},"labels":[],"label_agreement":null},{"id":"W4415901454","doi":"10.1016/j.xhgg.2025.100542","title":"CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","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":"Centre Hospitalier Universitaire Sainte-Justine","funders":"Shenzhen Science and Technology Innovation Program; Natural Science Foundation of Hunan Province; Sanming Project of Medicine in Shenzhen; National Natural Science Foundation of China; Génome Québec; Genome Canada","keywords":"Microcephaly; Zebrafish; Phenotype; Exome sequencing; Gene; Intellectual disability; Frameshift mutation; Genetic heterogeneity","score_opus":0.008476871437932876,"score_gpt":0.24039473949670873,"score_spread":0.23191786805877584,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4415901454","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":[0.9896372,0.0013395529,0.005086431,0.00036448904,0.000029417499,0.000092791255,0.0011072168,0.00011354416,0.0022294808],"genre_scores_gemma":[0.99264306,0.001389821,0.0038906187,0.000103799954,0.000009311344,0.000040616982,0.00036695125,0.000038070746,0.0015177279],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99973136,0.00004251058,0.000025527457,0.00007606337,0.00008370642,0.000040832463],"domain_scores_gemma":[0.9998729,0.00003632994,0.000041058927,0.0000127883895,0.000010279445,0.000026681573],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00022191012,0.0011006708,0.00048142183,0.0011499795,0.00039525158,0.00020872203,0.0003148351,0.00054103066,0.0018508735],"category_scores_gemma":[0.00031331342,0.00025101585,0.00039325003,0.00032401548,0.0007997589,0.00017540925,0.0007126895,0.00049505936,0.00017667],"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":[0.000382257,0.00009098834,0.0061740777,0.000097861746,0.00008310513,0.013311179,0.00018123687,0.00078843895,0.970108,0.0013222694,0.0005143443,0.0069462117],"study_design_scores_gemma":[0.00038457522,0.0019565185,0.18638726,0.00016588334,0.00068236724,0.0833626,0.00066806696,0.009767593,0.698432,0.0019691593,0.016055003,0.00016890153],"about_ca_topic_score_codex":0.008472692,"about_ca_topic_score_gemma":0.014431627,"teacher_disagreement_score":0.008472692,"about_ca_system_score_codex":0.00064763863,"about_ca_system_score_gemma":0.0005448688,"threshold_uncertainty_score":0.016846716},"labels":[],"label_agreement":null},{"id":"W4416411161","doi":"10.1016/j.xhgg.2025.100547","title":"Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","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 of Manitoba; Health Sciences Centre","funders":"Canadian Institutes of Health Research; Natural Sciences and Engineering Research Council of Canada; Canada Research Chairs; Research Manitoba","keywords":"Gene; Druggability; Disease; Human genetics; Trait; Candidate gene; Phenotype; Drug discovery","score_opus":0.061206512866200845,"score_gpt":0.3189898649513778,"score_spread":0.257783352085177,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4416411161","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":[0.3687808,0.02964814,0.52207977,0.004441024,0.0007454716,0.000901687,0.036272522,0.0020949922,0.035035577],"genre_scores_gemma":[0.7617032,0.015471927,0.18141422,0.0024854164,0.00023998252,0.0005763303,0.026585853,0.00045542963,0.011067706],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99964285,0.00010140473,0.0000286279,0.000114840885,0.000060266473,0.000051960033],"domain_scores_gemma":[0.9995821,0.00011445038,0.000080619335,0.0001231397,0.000058588026,0.000041047766],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00081215805,0.00043962893,0.00044611373,0.0010303112,0.00039702968,0.00063492765,0.0003821988,0.0006526526,0.0060802503],"category_scores_gemma":[0.00093069335,0.00021673161,0.00050239323,0.00061315304,0.0003678735,0.00034064832,0.0006832806,0.00083041255,0.0020192475],"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":[0.00031559556,0.00015749475,0.015766636,0.0006281864,0.00018994052,0.0012773772,0.00022561761,0.0016857223,0.8542664,0.015381831,0.007106093,0.102999166],"study_design_scores_gemma":[0.00014763247,0.0011177309,0.14071664,0.0004469719,0.0005844983,0.010559146,0.0004612505,0.009179988,0.5283508,0.027820798,0.28048137,0.00013323638],"about_ca_topic_score_codex":0.0016937308,"about_ca_topic_score_gemma":0.0056378194,"teacher_disagreement_score":0.0060802503,"about_ca_system_score_codex":0.00038540023,"about_ca_system_score_gemma":0.0007620582,"threshold_uncertainty_score":0.020340443},"labels":[],"label_agreement":null},{"id":"W4417178302","doi":"10.1016/j.xhgg.2025.100555","title":"Lack of association between G6PD variants and Parkinson disease","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Neonatal Health and Biochemistry","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":"McGill University Health Centre; Institut Universitaire de Gériatrie de Montréal; McGill University; Université Laval; Montreal Neurological Institute and Hospital","funders":"Canada First Research Excellence Fund; Consortium canadien en neurodégénérescence associée au vieillissement; Brookdale Foundation Group; Parkinson's Disease Foundation; Michael J. Fox Foundation for Parkinson's Research; Foundation for the National Institutes of Health","keywords":"Disease; Regulator; Logistic regression; Dopaminergic; Oxidative stress; Gene; Allele; Genotype","score_opus":0.021337965949923113,"score_gpt":0.32982081839396626,"score_spread":0.30848285244404317,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4417178302","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":[0.9618031,0.031441934,0.0029998568,0.0006013421,0.000116932744,0.00002359356,0.0013365243,0.000049065977,0.0016276499],"genre_scores_gemma":[0.9980388,0.0012145288,0.00025774722,0.000081693965,0.00002336666,0.0000042482566,0.00024787686,0.0000090084095,0.00012275453],"study_design_codex":"observational","study_design_gemma":"observational","domain_scores_codex":[0.99643624,0.001013954,0.0004958432,0.0015009248,0.00039495615,0.00015813317],"domain_scores_gemma":[0.9945082,0.0029855876,0.0010335647,0.000908006,0.00035415683,0.00021054938],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004906211,0.00046056832,0.001219838,0.00095635216,0.0005079645,0.0012063668,0.00057028496,0.00062038976,0.0018866523],"category_scores_gemma":[0.009125021,0.00032013404,0.0025251026,0.0014801839,0.0005790584,0.0005094405,0.0006611178,0.00052514416,0.00012692195],"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":[0.002152051,0.000020799764,0.957609,0.0006424197,0.02314786,0.0005952762,0.00014654327,0.0005146771,0.002434982,0.00027154523,0.00034221314,0.012122633],"study_design_scores_gemma":[0.00012187848,0.00039016813,0.9746153,0.00017732284,0.018534191,0.0012608343,0.00014860723,0.0008913543,0.00053898786,0.0009195463,0.0023882524,0.000013516635],"about_ca_topic_score_codex":0.004789793,"about_ca_topic_score_gemma":0.0060440176,"teacher_disagreement_score":0.004906211,"about_ca_system_score_codex":0.00032420366,"about_ca_system_score_gemma":0.00042876764,"threshold_uncertainty_score":0.025946796},"labels":[],"label_agreement":null},{"id":"W4417214974","doi":"10.1016/j.xhgg.2025.100557","title":"A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"RNA modifications and cancer","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":"Université de Sherbrooke","funders":"Deutsche Forschungsgemeinschaft","keywords":"Small nucleolar RNA; Proband; Ribonucleoprotein; Fibrillarin; Ribosome biogenesis; Neurodevelopmental disorder; Ribosomal RNA; Nucleolus; Exon","score_opus":0.0043834334886496094,"score_gpt":0.2473419592078083,"score_spread":0.24295852571915869,"validation_status":"score_only:v0-immature-baseline","prediction":{"id":"W4417214974","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":[0.9967469,0.0004894943,0.0011553795,0.00009044411,0.000052650335,0.000023341263,0.00051899144,0.00008109075,0.0008417429],"genre_scores_gemma":[0.9973398,0.00023873514,0.0008758006,0.00006074381,0.000020711414,0.000014201648,0.00029836403,0.000024393774,0.0011272705],"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","domain_scores_codex":[0.99983263,0.000012571764,0.000021316853,0.00006492868,0.00004867722,0.000019936475],"domain_scores_gemma":[0.99978226,0.00006298034,0.000067654764,0.0000140972425,0.00001513253,0.000057878176],"candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000079131176,0.0012043145,0.00038205655,0.00047985426,0.0003136909,0.00015614128,0.0003554849,0.0006958585,0.0021613715],"category_scores_gemma":[0.00036826002,0.00016752299,0.00027457898,0.00023545393,0.0004598233,0.00010138397,0.00032548298,0.0003352498,0.00058393064],"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":[0.0006300043,0.00010306157,0.022921126,0.00016120565,0.00011025913,0.21553604,0.00031475,0.0003201368,0.7468466,0.0005015078,0.0006152928,0.011940088],"study_design_scores_gemma":[0.0001417489,0.0010699815,0.27937543,0.00014366426,0.00032364868,0.43359306,0.0004964277,0.0029567855,0.2698846,0.0011250097,0.010813678,0.00007597524],"about_ca_topic_score_codex":0.0013355243,"about_ca_topic_score_gemma":0.0018215888,"teacher_disagreement_score":0.0021613715,"about_ca_system_score_codex":0.00022301413,"about_ca_system_score_gemma":0.00019944918,"threshold_uncertainty_score":0.0072305202},"labels":[],"label_agreement":null}]}