{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003456128,0.0004054176,0.0005888868,0.002172471,0.0003506849,0.0004839263,0.0003149915,0.0004534952,0.004034278],"category_scores_gemma":[0.000795957,0.0001414619,0.0005765345,0.001737106,0.0004861535,0.0002653509,0.0005597371,0.0004307388,0.001012158],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002550344,"about_ca_system_score_gemma":0.0002956136,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008020137,"about_ca_topic_score_gemma":0.001333153,"domain_scores_codex":[0.9994001,0.00005557069,0.00005763467,0.000230144,0.0001936826,0.00006282271],"domain_scores_gemma":[0.998852,0.0004977638,0.0003500341,0.0001082141,0.00006173227,0.0001302972],"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":[0.0009046438,0.0001198092,0.1160862,0.0009672489,0.0003900279,0.006271794,0.0003875135,0.0005473031,0.7606248,0.001068863,0.001233077,0.1113989],"study_design_scores_gemma":[0.00005079538,0.0003503595,0.8489155,0.0002080068,0.000326166,0.02543899,0.0002654001,0.0006471972,0.09096032,0.001270233,0.03151584,0.00005099565],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9606873,0.0199324,0.005283989,0.0004589988,0.00007530904,0.00004509775,0.009455365,0.0002106096,0.003850985],"genre_scores_gemma":[0.9672607,0.00902275,0.008897058,0.0002652209,0.00005731572,0.00006030778,0.0112652,0.00008648508,0.003085017],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004034278,"threshold_uncertainty_score":0.01349604,"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."}}