{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001495476,0.00006309924,0.0001825775,0.00002062554,0.00001249,0.000001776039,0.00006213635,0.0005480584,0.00002131298],"category_scores_gemma":[0.0003255435,0.00005341517,0.00003701859,0.00004518799,0.00003591315,0.000001261891,0.00003924973,0.0001702065,0.00000221746],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005253281,"about_ca_system_score_gemma":0.00003999253,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009509266,"about_ca_topic_score_gemma":0.00001133466,"domain_scores_codex":[0.9995374,0.00004021355,0.000136023,0.0001301473,0.0000458054,0.0001104088],"domain_scores_gemma":[0.9995607,0.00005724756,0.0001071545,0.0001450293,0.0001073711,0.00002253981],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001515212,0.000007832788,0.2411378,0.00002665444,0.00004650643,3.288888e-7,0.00001702606,0.00003752429,0.756734,0.00008096184,0.001667765,0.000228534],"study_design_scores_gemma":[0.00256162,0.001764653,0.3960024,0.0001014344,0.0001486398,0.00002944765,0.0005511282,0.0006871161,0.5604525,0.001006965,0.03613374,0.0005603545],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9926,0.006498928,0.000004787988,0.0001156848,0.0001435202,0.00008405853,0.00003409376,0.000001959916,0.0005169967],"genre_scores_gemma":[0.9984826,0.0001770308,0.0004992841,0.0002781571,0.00004883261,0.000001596822,0.0000491234,0.000005868867,0.0004574661],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1962815,"threshold_uncertainty_score":0.4227128,"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."}}