{"id":"W2410774145","doi":"10.1016/j.jacc.2016.03.520","title":"Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia","year":2016,"lang":"en","type":"article","venue":"Journal of the American College of Cardiology","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":939,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institute on Aging; Medical Research Council; National Institute for Health and Care Research; British Heart Foundation; Wellcome Trust","keywords":"Familial hypercholesterolemia; Medicine; Internal medicine; Missense mutation; Coronary artery disease; Cholesterol; PCSK9; Odds ratio; LDL receptor; Cohort; Apolipoprotein B; Endocrinology; Gastroenterology; Mutation; Lipoprotein; Genetics; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002376329,0.0007848809,0.0004242648,0.001362512,0.0004466812,0.00109448,0.000558808,0.001396518,0.001164991],"category_scores_gemma":[0.01933902,0.0004227764,0.0003808133,0.0005179375,0.0006456871,0.0006973333,0.0005840951,0.0008539679,0.0003582554],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003577482,"about_ca_system_score_gemma":0.0003700875,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001356325,"about_ca_topic_score_gemma":0.001435579,"domain_scores_codex":[0.9982444,0.00073713,0.0002012217,0.0002747572,0.0003700769,0.0001723519],"domain_scores_gemma":[0.9918441,0.005774646,0.000571959,0.0004283501,0.0008785855,0.0005022858],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001257815,0.00006738712,0.9857424,0.00001748372,0.00004482375,0.0009421743,0.0001373657,0.0003731138,0.003052742,0.00009859745,0.0002656027,0.008000539],"study_design_scores_gemma":[0.000111782,0.0008784002,0.9702531,0.00004454724,0.0003567715,0.009710245,0.0006655867,0.01096376,0.005210865,0.000782698,0.000990434,0.000031789],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970251,0.0006939991,0.0004723437,0.0003147631,0.00002210544,0.000006777609,0.0001059758,0.00001913063,0.001339867],"genre_scores_gemma":[0.9992889,0.0001088033,0.0003329987,0.0000750582,0.0000337062,0.000002685667,0.0000754307,0.000004007426,0.00007823717],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002376329,"threshold_uncertainty_score":0.0125674,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02075664226208306,"score_gpt":0.2727990526312929,"score_spread":0.2520424103692099,"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."}}