{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001715317,0.001048038,0.0017318,0.002023912,0.0005160642,0.001679838,0.001449261,0.002786295,0.003037428],"category_scores_gemma":[0.00153467,0.0002014971,0.0006822603,0.001632218,0.002912662,0.004502343,0.001529933,0.004349024,0.001503637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001121113,"about_ca_system_score_gemma":0.002549735,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008809218,"about_ca_topic_score_gemma":0.001160868,"domain_scores_codex":[0.9994401,0.0002297582,0.00005871013,0.00009870616,0.0001361455,0.0000364299],"domain_scores_gemma":[0.9986166,0.001041724,0.00006456031,0.0000510603,0.0001534159,0.00007270038],"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":[0.00009894279,0.00009185923,0.0006601234,0.02280205,0.0003352698,0.001846986,0.0006298833,0.0005047803,0.001691446,0.1204492,0.08978955,0.7610999],"study_design_scores_gemma":[0.00001430244,0.00008628643,0.0004536708,0.004386581,0.00009761267,0.004343907,0.0002711101,0.0001129614,0.0001487595,0.03407616,0.9559888,0.00001980096],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00009836395,0.9928296,0.0006000358,0.003675374,0.00100821,0.000002610588,0.000007096552,0.000008891991,0.001769796],"genre_scores_gemma":[0.002055667,0.9918193,0.0004419163,0.002652443,0.002121689,0.000008963889,0.00001634387,0.000005793618,0.000877862],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003037428,"threshold_uncertainty_score":0.01016122,"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."}}