{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004121994,0.0005817874,0.0003523993,0.001154103,0.0005182936,0.0007117765,0.0004120875,0.001157208,0.003619487],"category_scores_gemma":[0.001467344,0.0002319862,0.0005183946,0.0007177482,0.0002668028,0.000216343,0.0004153544,0.0005654503,0.0003456934],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001808868,"about_ca_system_score_gemma":0.0001214329,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001345076,"about_ca_topic_score_gemma":0.002026843,"domain_scores_codex":[0.9996287,0.00007007115,0.000039431,0.0001119115,0.00008829148,0.00006160406],"domain_scores_gemma":[0.9993867,0.0003033991,0.0001332085,0.00004939878,0.00004342373,0.00008395028],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002545993,0.0002383958,0.8461435,0.00008758481,0.0006924074,0.01671819,0.0005364974,0.000530789,0.1005191,0.000999356,0.001731761,0.02925637],"study_design_scores_gemma":[0.0000884621,0.0002462169,0.9677989,0.00005123408,0.0004477039,0.01909028,0.0002669615,0.002148364,0.00663907,0.001276263,0.001923579,0.00002292034],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976854,0.0002417616,0.0005413218,0.0001649902,0.00001778915,0.000005073365,0.0004760684,0.00001447932,0.000853151],"genre_scores_gemma":[0.9981202,0.0001351568,0.0005280817,0.0001517523,0.00003465158,0.000004522679,0.000438696,0.000008180677,0.0005787315],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003619487,"threshold_uncertainty_score":0.01210839,"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."}}