{"id":"W4301175044","doi":"10.17615/pc2a-ev84","title":"Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction","year":2020,"lang":"en","type":"article","venue":"UNC Libraries","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Heart, Lung, and Blood Institute; National Institutes of Health; Fondation Leducq; Canadian Institutes of Health Research; Donovan Family Foundation; Cleveland Clinic; Foundation for Barnes-Jewish Hospital; National Human Genome Research Institute; Massachusetts General Hospital","keywords":"Exome sequencing; Myocardial infarction; Allele; Exome; Genetics; Biology; Medicine; Internal medicine; Computational biology; Mutation; Gene","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":[0.0003255066,0.0003842844,0.0005067395,0.0009115552,0.0004092295,0.0006451851,0.0002875353,0.0008733606,0.001823211],"category_scores_gemma":[0.001684144,0.0001750964,0.0003723612,0.0008885772,0.0001641593,0.0001701053,0.0004828667,0.0004492394,0.0002848189],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001801446,"about_ca_system_score_gemma":0.0001172105,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001503699,"about_ca_topic_score_gemma":0.002055578,"domain_scores_codex":[0.9996027,0.00004826208,0.00003559261,0.0001593766,0.00009953541,0.00005456473],"domain_scores_gemma":[0.9994092,0.0002175225,0.0001833464,0.00005035217,0.00005855047,0.00008105742],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001536029,0.0001201787,0.8088253,0.000245888,0.0008110817,0.007660002,0.0006344625,0.0004912053,0.1467804,0.0005574223,0.003122337,0.0292158],"study_design_scores_gemma":[0.00007290877,0.0001362964,0.9849612,0.00006676449,0.0003423387,0.006025972,0.0001885552,0.001339228,0.003972812,0.0003556777,0.002516012,0.00002222867],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954494,0.0009563113,0.0007460595,0.0001335249,0.00001700877,0.000009722797,0.002213328,0.00001669956,0.0004579918],"genre_scores_gemma":[0.9926217,0.0008706264,0.001325801,0.0003018332,0.0000528344,0.00001869775,0.004269929,0.00001391119,0.0005246322],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001823211,"threshold_uncertainty_score":0.006099284,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03380076316579308,"score_gpt":0.2400619810337032,"score_spread":0.2062612178679101,"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."}}