{"id":"W2767038995","doi":"10.1038/ng.3977","title":"Exome-wide association study of plasma lipids in >300,000 individuals","year":2017,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":595,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"FP7 Ideas: European Research Council; National Institute of General Medical Sciences; National Cancer Institute; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Center for Advancing Translational Sciences; Medical Research Council; Directorate for Biological Sciences; Novo Nordisk Fonden; Faculty of Health and Medical Sciences, University of Western Australia; Rigshospitalet; British Heart Foundation; NIHR Exeter Clinical Research Facility; European Hematology Association; Sarnoff Cardiovascular Research Foundation; Perelman School of Medicine, University of Pennsylvania; Vanderbilt University Medical Center; Steno Diabetes Center Copenhagen; Wellcome Trust; National Institutes of Health; Regeneron Pharmaceuticals; Lundbeckfonden; Eli Lilly and Company; AstraZeneca; National Institute for Health and Care Research; Quest Diagnostics; Gentofte Hospital; Bayer HealthCare; Donovan Family Foundation; National Institute on Drug Abuse; University of Pennsylvania; Japanese Circulation Society; Vanderbilt University; Alnylam Pharmaceuticals; Massachusetts General Hospital; Broad Institute; National Institute of Diabetes and Digestive and Kidney Diseases; Sanofi; U.S. Department of Health and Human Services","keywords":"Biology; Internal medicine; Endocrinology; Allele; Exome; Genome-wide association study; Coronary artery disease; High-density lipoprotein; Cholesterol; Lipolysis; Type 2 diabetes; Genotyping; Single-nucleotide polymorphism; Lipoprotein; Genetics; Exome sequencing; Diabetes mellitus; Genotype; Gene; Medicine; Adipose tissue; Phenotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005556748,0.0001456782,0.0003953147,0.0001654911,0.00009956758,0.00003411398,0.0002605898,0.0004593911,0.0000385009],"category_scores_gemma":[0.002426766,0.0001303197,0.00005818739,0.000131984,0.00003064508,0.00006142423,0.0001042321,0.0006152964,0.00001116147],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004963203,"about_ca_system_score_gemma":0.00008482287,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004302968,"about_ca_topic_score_gemma":0.0002182497,"domain_scores_codex":[0.9985169,0.00007255026,0.0003289744,0.0002405847,0.0005912984,0.0002497093],"domain_scores_gemma":[0.9986269,0.0001544406,0.0003278212,0.0006515289,0.0001541378,0.00008513503],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003905009,0.0005707687,0.9907625,0.00003344315,0.00006733953,0.00000410852,0.001455937,0.00001393547,0.0002589434,0.00001477,0.00406122,0.002717932],"study_design_scores_gemma":[0.004609293,0.0002467134,0.9695967,0.00003038221,0.0001551791,5.842946e-7,0.0005986084,0.00001835233,0.001667998,0.00009587852,0.02286478,0.0001155092],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930505,0.001152039,0.000001750645,0.0006181651,0.001034585,0.0005318755,0.00002349829,0.0000176832,0.003569944],"genre_scores_gemma":[0.9974456,0.0003059674,0.0004423893,0.000431133,0.0003928757,0.00001317437,0.000015445,0.00002103862,0.0009324123],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02116583,"threshold_uncertainty_score":0.5314283,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01307542389857536,"score_gpt":0.2913203457382377,"score_spread":0.2782449218396624,"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."}}