{"id":"W2966423463","doi":"10.1016/j.hrthm.2019.07.030","title":"Gene discovery: From biological plausibility to genetic evidence supporting disease causation","year":2019,"lang":"en","type":"letter","venue":"Heart Rhythm","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Toronto General Hospital","funders":"Canadian Institutes of Health Research; National Institutes of Health","keywords":"Medicine; Causation; Disease; MEDLINE; Computational biology; Data science; Bioinformatics; Epistemology; Internal medicine; Biology; Computer science","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001433978,0.0003836441,0.0003720416,0.00004903919,0.00009559892,0.0001156328,0.0002244927,0.0005381436,0.0001049803],"category_scores_gemma":[0.0004258792,0.0003388851,0.0002829491,0.00006619846,0.00006440482,0.000007803657,0.000345339,0.0003306674,0.0002302775],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005511587,"about_ca_system_score_gemma":0.0003736263,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001744467,"about_ca_topic_score_gemma":0.00001955545,"domain_scores_codex":[0.9974133,0.0001645625,0.0004320515,0.001216939,0.0002542321,0.0005189128],"domain_scores_gemma":[0.9984004,0.000077735,0.0001611424,0.001070712,0.00009757531,0.0001924554],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002648482,0.00006676947,0.019238,0.0001556136,0.0001112243,0.000703712,0.00003407008,0.0002052003,0.0740798,0.000001256779,0.904659,0.0004805028],"study_design_scores_gemma":[0.0003109071,0.0003915829,0.1588601,0.0002113978,0.0001428253,0.0001404696,0.00001394147,0.00005141322,0.01087917,0.0002024173,0.8275841,0.001211717],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9328181,0.002533792,0.0004379122,0.06149844,0.0006371979,0.000713198,0.001329188,0.00002136813,0.00001077582],"genre_scores_gemma":[0.6939524,0.0002943171,0.0009427867,0.291905,0.005976643,0.00009620871,0.005760613,0.00006648422,0.001005581],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2388658,"threshold_uncertainty_score":0.9999063,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03062867787483439,"score_gpt":0.2846560897955779,"score_spread":0.2540274119207435,"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."}}