{"id":"W2968026273","doi":"10.1161/circulationaha.118.035954","title":"Beyond the One Gene–One Disease Paradigm","year":2019,"lang":"en","type":"review","venue":"Circulation","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":138,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Heart, Lung, and Blood Institute; Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers; Université de Montréal; School of Medicine, New York University; National Institutes of Health; Universiteit van Amsterdam; Institut de Cardiologie de Montréal; Amsterdam University Medical Centers; American Heart Association","keywords":"Phenotype; Brugada syndrome; Mendelian inheritance; Genetics; Gene; Genotype-phenotype distinction; Long QT syndrome; Medicine; Disease; Multifactorial Inheritance; Biology; Bioinformatics; Genotype; Single-nucleotide polymorphism; Pathology; QT interval; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002094982,0.0002381842,0.001139869,0.00008471333,0.0001172999,0.00002447051,0.00008090617,0.0001352978,0.00003592711],"category_scores_gemma":[0.00007544069,0.0001637457,0.0006309059,0.0002220905,0.00006121765,0.00004144025,0.00005214211,0.0002262686,0.0003563894],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001339067,"about_ca_system_score_gemma":0.0002121487,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004861752,"about_ca_topic_score_gemma":5.102851e-7,"domain_scores_codex":[0.9987422,0.00009156427,0.0003408437,0.0003238206,0.0003205317,0.0001810248],"domain_scores_gemma":[0.9988665,0.0001181981,0.0001905099,0.0006764015,0.00005235321,0.00009603782],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001986772,0.00008470821,0.0004080747,0.01757101,0.0008204438,0.00002145018,0.0001375518,0.000006629731,0.000002109019,0.00217985,0.0008472921,0.977901],"study_design_scores_gemma":[0.0002856082,0.00001269026,0.02291558,0.004348576,0.009795137,0.00004246112,0.000005668008,0.00001069935,2.388034e-7,0.00050869,0.9618542,0.0002204394],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00004835697,0.9948925,0.0002141291,0.0002472167,0.0005094439,0.001603349,0.00004505518,0.00004918166,0.002390764],"genre_scores_gemma":[0.003208345,0.9942877,0.00002155022,0.0001709054,0.001208841,0.0001378136,0.00061281,0.00004271733,0.000309351],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9776806,"threshold_uncertainty_score":0.6677357,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1005844823788821,"score_gpt":0.3339701302509198,"score_spread":0.2333856478720377,"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."}}