{"id":"W2945877977","doi":"10.1038/s41586-019-1231-2","title":"Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls","year":2019,"lang":"en","type":"article","venue":"Nature","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":338,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre","funders":"Steno Diabetes Center Aarhus; Children's Hospital of Pittsburgh; National Center for Research Resources; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Korea Centers for Disease Control and Prevention; Centers for Disease Control and Prevention; University of Oklahoma; Washington University in St. Louis; Hong Kong Government; Innovation and Technology Fund; National Institutes of Health; Chinese University of Hong Kong; Lundbeckfonden; Wellcome Trust; Steno Diabetes Center Copenhagen; University of Oklahoma Health Sciences Center; Broad Institute; National Research Foundation; Massachusetts General Hospital; Case Western Reserve University; National Center for Advancing Translational Sciences; Medical Research Council; National Research Foundation of Korea; NIH Office of the Director; University of Colorado Denver; Yale University; Boston Area Diabetes Endocrinology Research Center; Shanghai Jiao Tong University; Novo Nordisk Fonden; National Medical Research Council; Children's Hospital of Philadelphia; Ministerio de Economía y Competitividad; National Institute on Aging; Children's Hospital Los Angeles; National Institute for Health and Care Research","keywords":"Exome sequencing; Type 2 diabetes; Exome; Genetics; Medicine; Type (biology); Biology; Computational biology; Bioinformatics; Diabetes mellitus; Endocrinology; Mutation; Gene; Paleontology","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":[0.0006764915,0.0003905439,0.0002947792,0.0009897655,0.0006542363,0.0004703765,0.0002668939,0.0006688404,0.002681266],"category_scores_gemma":[0.002259826,0.0002447085,0.0003639218,0.001099114,0.0002438382,0.000217732,0.0006159598,0.0003117961,0.0004485781],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000218308,"about_ca_system_score_gemma":0.0001843392,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00390461,"about_ca_topic_score_gemma":0.004099234,"domain_scores_codex":[0.9994079,0.0001032701,0.00005818429,0.000271195,0.0001009687,0.00005860178],"domain_scores_gemma":[0.9993112,0.0002425166,0.0001502593,0.0001229098,0.0001018084,0.00007132864],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001253986,0.0001994629,0.9220648,0.0001889716,0.0008442773,0.00268521,0.001126896,0.0003046273,0.04130283,0.0005045523,0.003777486,0.02574692],"study_design_scores_gemma":[0.00009240911,0.0001788629,0.9863382,0.00003569364,0.0001985301,0.002538046,0.0002550502,0.0002221721,0.002107667,0.0002596356,0.007759877,0.0000138397],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989778,0.0007507604,0.001673948,0.0001284109,0.00002420046,0.00005663465,0.00601426,0.00001954104,0.001554248],"genre_scores_gemma":[0.9738424,0.000952174,0.002447472,0.0003570332,0.00005571204,0.0001492388,0.01934807,0.0000314149,0.002816502],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00390461,"threshold_uncertainty_score":0.008969665,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008179826030848852,"score_gpt":0.2525138610451986,"score_spread":0.2443340350143498,"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."}}