{"id":"W2050838276","doi":"10.1038/nature13917","title":"Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction","year":2014,"lang":"en","type":"article","venue":"Nature","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":677,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University; University of Ottawa","funders":"National Heart, Lung, and Blood Institute; National Institute on Aging; Medical Research Council; National Institutes of Health; Fondation Leducq; Parkinson's UK; Cleveland Clinic; British Heart Foundation; Foundation for Barnes-Jewish Hospital; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Wellcome Trust; Canadian Institutes of Health Research; National Institute of Neurological Disorders and Stroke; National Institute of Nursing Research; Massachusetts General Hospital; National Institute for Health and Care Research; Donovan Family Foundation","keywords":"LDL receptor; Exome; Exome sequencing; Genetics; Myocardial infarction; Familial hypercholesterolemia; PCSK9; Allele; Apolipoprotein B; Population; Biology; Mutation; Internal medicine; Medicine; Gene; Lipoprotein; Cholesterol","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004047325,0.00009745995,0.0001382602,0.00002852126,0.0001515508,0.00002189506,0.00006699771,0.0008039334,0.000003503292],"category_scores_gemma":[0.0007604174,0.00009067867,0.00006896523,0.00002636533,0.00003611621,0.000003235888,0.00005117058,0.0003044345,0.000001476165],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001406978,"about_ca_system_score_gemma":0.00002527513,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002803169,"about_ca_topic_score_gemma":0.00007973098,"domain_scores_codex":[0.999312,0.00008449795,0.0001319226,0.0002458056,0.00005296349,0.0001728223],"domain_scores_gemma":[0.9995759,0.00005342747,0.00009233136,0.0001443056,0.00009408038,0.00003999003],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001774198,0.00003225723,0.3014472,0.0001296722,0.0006429538,9.215107e-7,0.0005141011,0.00178154,0.6227005,0.0022853,0.04351697,0.02677114],"study_design_scores_gemma":[0.002024215,0.000448085,0.6002176,0.0000292364,0.0001764105,0.00003545339,0.0007256216,0.003377391,0.02115333,0.008326411,0.3628323,0.0006539228],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923194,0.001204021,0.005118313,0.000391297,0.0003329925,0.000148005,0.00003456304,0.00001298699,0.0004384258],"genre_scores_gemma":[0.9962355,0.0003404649,0.001846659,0.0005689125,0.0005396294,0.00002532076,0.0001592348,0.00001218272,0.0002720532],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6015472,"threshold_uncertainty_score":0.6200671,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00867466520151229,"score_gpt":0.2574486143376772,"score_spread":0.2487739491361649,"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."}}