{"id":"W2170009139","doi":"10.1056/nejmoa1307095","title":"Loss-of-Function Mutations in<i>APOC3,</i>Triglycerides, and Coronary Disease","year":2014,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1076,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Heart, Lung, and Blood Institute; Medical Research Council; Canadian Institutes of Health Research; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai; School of Medicine, Stanford University; National Institutes of Health; Helmholtz Zentrum München; Regione Emilia-Romagna; Novo Nordisk Fonden; Rheinische Friedrich-Wilhelms-Universität Bonn; Università degli Studi di Verona; Technische Universität München; Umeå Universitet; Universität zu Lübeck; National Cancer Institute; King Abdulaziz University; Hjärt-Lungfonden; George Washington University; Lunds Universitet; Fondation Leducq; University of Leicester; National Institute of Neurological Disorders and Stroke; British Heart Foundation; Russell and Diana Hawkins Family Foundation; University of Ottawa; Deutsches Zentrum für Herz-Kreislaufforschung; University of Texas Health Science Center at Houston; Broad Institute; University of Oxford; Barts and The London School of Medicine and Dentistry; Norges Teknisk-Naturvitenskapelige Universitet; Donovan Family Foundation; University of Washington; National Institute on Aging; National Institute for Health and Care Research; Queen Mary University of London; Università degli Studi di Milano; University of Wisconsin-Milwaukee; University of Leeds; Massachusetts General Hospital; Wellcome Trust; University of North Carolina at Chapel Hill; U.S. Department of Agriculture","keywords":"Missense mutation; Nonsense mutation; Medicine; Genetics; Exome sequencing; Internal medicine; Exome; Apolipoprotein B; Endocrinology; Mutation; Gene; Cholesterol; Biology","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":[0.000482175,0.0004045473,0.0002375121,0.0007739766,0.0003486933,0.0003942183,0.0003365244,0.0006241017,0.001785547],"category_scores_gemma":[0.001647498,0.0001260913,0.0002449983,0.000722668,0.000665296,0.00015438,0.0003040808,0.0003707286,0.0001771857],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003004823,"about_ca_system_score_gemma":0.0002680217,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003402436,"about_ca_topic_score_gemma":0.002487592,"domain_scores_codex":[0.9997434,0.00003859661,0.00003570328,0.00006979385,0.00007457301,0.00003781967],"domain_scores_gemma":[0.9991041,0.0002494861,0.0003897857,0.00003411637,0.00007650072,0.0001459947],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001417752,0.0001016995,0.9613574,0.00005772548,0.0002173869,0.002729518,0.0001727913,0.00032586,0.02621153,0.0002634017,0.0004183032,0.006726724],"study_design_scores_gemma":[0.00006019423,0.0002393545,0.9810301,0.00003269141,0.0002270346,0.009880169,0.0001308834,0.0008794382,0.006352771,0.000496298,0.0006569364,0.00001423599],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986098,0.0004783241,0.0002512971,0.00006500407,0.00000509622,0.000008405026,0.0001933776,0.00001115851,0.0003775712],"genre_scores_gemma":[0.9991209,0.000165505,0.0003968932,0.00004206634,0.00001202822,0.000005686943,0.0001221597,0.00000556109,0.00012923],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003402436,"threshold_uncertainty_score":0.006765246,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01079077542764612,"score_gpt":0.2621004673734688,"score_spread":0.2513096919458227,"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."}}