{"id":"W4300658419","doi":"10.17615/tchk-ac83","title":"Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease","year":2020,"lang":"en","type":"article","venue":"Figshare","topic":"Pharmacogenetics and Drug Metabolism","field":"Pharmacology, Toxicology and Pharmaceutics","cited_by":62,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Heart, Lung, and Blood Institute; National Institutes of Health; Hjärt-Lungfonden; British Heart Foundation; Fondation Leducq; University of North Carolina at Chapel Hill; Broad Institute; University of Texas Health Science Center at Houston; Donovan Family Foundation; Regione Emilia-Romagna; University of Wisconsin-Milwaukee; Canadian Institutes of Health Research; University of Washington; Massachusetts General Hospital; Russell and Diana Hawkins Family Foundation; U.S. Department of Agriculture","keywords":"Internal medicine; Cardiology; Mutation; Loss function; Coronary disease; Medicine; Function (biology); Coronary heart disease; Genetics; Biology; Gene; Phenotype","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":[0.0004246841,0.0004585274,0.000367585,0.0006288277,0.0003267188,0.0006427107,0.0004935511,0.0009437451,0.06358038],"category_scores_gemma":[0.001780891,0.0002038918,0.0004138472,0.0008900588,0.0003740667,0.0003059428,0.0004208943,0.0006211542,0.01389051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002391495,"about_ca_system_score_gemma":0.0002575036,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004768875,"about_ca_topic_score_gemma":0.001069083,"domain_scores_codex":[0.9997603,0.00003995577,0.00001426373,0.00004692642,0.0001116413,0.00002686736],"domain_scores_gemma":[0.9993458,0.0002386204,0.0001591769,0.00009797782,0.00004265827,0.0001157664],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.005057432,0.0003132483,0.07215081,0.001874559,0.0006133527,0.01046157,0.0002705654,0.001811523,0.1129404,0.02030239,0.4361524,0.3380518],"study_design_scores_gemma":[0.001072866,0.0006893725,0.2583803,0.0007799993,0.001163489,0.05370889,0.0002014955,0.006203361,0.06718291,0.04309333,0.5673764,0.0001476012],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6704735,0.02002894,0.02585429,0.02108717,0.003001585,0.000227117,0.1192437,0.01232879,0.1277548],"genre_scores_gemma":[0.8980194,0.00880148,0.0160194,0.003180309,0.0006365654,0.00008343283,0.02128139,0.001410992,0.05056711],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06358038,"threshold_uncertainty_score":0.2126976,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1731985691376916,"score_gpt":0.4108128009637603,"score_spread":0.2376142318260687,"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."}}