{"id":"W4212829112","doi":"10.1038/s44161-022-00018-8","title":"Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy","year":2022,"lang":"en","type":"article","venue":"Nature Cardiovascular Research","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":68,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Hospital for Sick Children; Sinai Health System; Toronto Centre for Phenogenomics","funders":"National Heart, Lung, and Blood Institute; Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences; Helmholtz Zentrum München; Medical Research Council; Centre National de la Recherche Scientifique; PHENOMIN; Soochow University; Université de Strasbourg; Institut National de la Santé et de la Recherche Médicale; European Commission; National Human Genome Research Institute; Agence Nationale de la Recherche; U.S. Department of Health and Human Services; National Institutes of Health; Ontario Genomics; Genome Canada","keywords":"Heart disease; Cardiomyopathy; Cardiac function curve; Disease; Medicine; Internal medicine; Cardiology; Heart failure","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002347741,0.0001290489,0.0002859861,0.0003184792,0.0002343384,0.00003791461,0.0001951815,0.0001781253,0.000007160374],"category_scores_gemma":[0.0004062408,0.0001358754,0.0002187301,0.0004964036,0.0003487649,0.00001024218,0.0008622301,0.0008220105,7.960967e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004565528,"about_ca_system_score_gemma":0.0001200394,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001868915,"about_ca_topic_score_gemma":0.0001840361,"domain_scores_codex":[0.996972,0.0009200897,0.0002099539,0.0005826753,0.0009459771,0.0003693606],"domain_scores_gemma":[0.9988959,0.00006708751,0.00002231756,0.0005692102,0.000347777,0.00009768583],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005518011,0.00006043211,0.1374308,0.0002690543,0.001140586,0.0000711912,0.0004045659,0.0005830062,0.7990877,0.0001464034,0.0003612285,0.05989326],"study_design_scores_gemma":[0.004308583,0.001273968,0.7566693,0.00002364626,0.0001379887,0.0004983797,0.005358886,0.001303846,0.1457387,0.001030563,0.08278795,0.0008681837],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.865422,0.1336915,0.00001212475,0.0000869366,0.00007992444,0.0005865029,0.00004519351,0.000004504307,0.0000713578],"genre_scores_gemma":[0.9983751,0.001215331,0.00003764035,0.00001522195,0.00007282136,0.0001168669,0.00006769133,0.00002567093,0.00007361825],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.653349,"threshold_uncertainty_score":0.5540836,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01454075976704529,"score_gpt":0.3126472214588317,"score_spread":0.2981064616917864,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}