{"id":"W4391925503","doi":"10.1038/s41586-024-07019-6","title":"Genetic drivers of heterogeneity in type 2 diabetes pathophysiology","year":2024,"lang":"en","type":"article","venue":"Nature","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":513,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Impact; Hamilton Health Sciences; University of Toronto; McMaster University; Population Health Research Institute","funders":"Janssen Research and Development; National Institute of Environmental Health Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institute on Aging; Helmholtz Zentrum München; RIKEN; Respicardia; Manchester Biomedical Research Centre; Perelman School of Medicine, University of Pennsylvania; Steno Diabetes Center Aarhus; National Institutes of Health; Regeneron Pharmaceuticals; Versus Arthritis; Medical Research Council; Tartu Ülikool; Servier; American Heart Association; Novo Nordisk Fonden; Technische Universität München; Genentech; Quest Diagnostics; AstraZeneca; European Commission; McMaster University; University of Oxford; Department of Health and Social Care; Guangdong Provincial People's Hospital; British Heart Foundation; Zora Biosciences; Ionis Pharmaceuticals; Cancer Research UK; Wellcome Trust; ARCA Biopharma; Medicines Company; Vanderbilt University Medical Center; Hamilton Health Sciences; University of North Carolina at Chapel Hill; Queen Mary University of London; Harvard University; Novo Nordisk; U.S. Department of Veterans Affairs; University of Pennsylvania; Daiichi-Sankyo; Nanjing Medical University; Vanderbilt University; Yale University; Massachusetts General Hospital; Brigham and Women's Hospital; Imperial College London; Eunice Kennedy Shriver National Institute of Child Health and Human Development; U.S. Department of Health and Human Services; Abiomed; GlaxoSmithKline; Eli Lilly and Company; Pfizer; Amgen; Broad Institute; Sanofi; National Center for Global Health and Medicine; National Institute for Health and Care Research; American Diabetes Association; Kowa Company","keywords":"Genome-wide association study; Type 2 diabetes; Biology; Genetic association; Genetics; Epigenomics; Disease; Genetic architecture; Genetic genealogy; Genetic heterogeneity; Cell type; Evolutionary biology; Bioinformatics; Quantitative trait locus; Diabetes mellitus; Medicine; Phenotype; Internal medicine; Single-nucleotide polymorphism; Gene; Genotype; Endocrinology; Cell; DNA methylation; Population","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":[0.0001184806,0.00008218643,0.0001384794,0.00005098278,0.00001307381,0.000003320964,0.0001047622,0.0008806479,0.00001458571],"category_scores_gemma":[0.0001264627,0.00007338839,0.00006473176,0.0001395554,0.00004454027,0.000001035563,0.00005446699,0.0003546733,0.000008499303],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001078413,"about_ca_system_score_gemma":0.00004817107,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005471405,"about_ca_topic_score_gemma":0.00003587542,"domain_scores_codex":[0.9993304,0.00007724745,0.0001476948,0.0002328146,0.00004463148,0.0001672118],"domain_scores_gemma":[0.9997099,0.00002518215,0.00003164294,0.0001644573,0.00004393815,0.00002486441],"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":[0.00001430251,0.00003315644,0.2342738,0.00004943711,0.00007327498,0.000005383895,0.00003833973,0.0005387225,0.7524036,0.0001133839,0.006665041,0.005791525],"study_design_scores_gemma":[0.0002032765,0.0003029751,0.9504689,0.00002443246,0.00002029232,0.000002324872,0.00002418764,0.0007307982,0.02808563,0.001479273,0.0184846,0.0001733297],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864172,0.01275312,0.00002848327,0.0001868264,0.0003609995,0.00006172316,0.00001678993,0.000006716306,0.0001681612],"genre_scores_gemma":[0.9976768,0.0007658096,0.0009155192,0.0003911599,0.000115026,0.000005129206,0.00005150049,0.00000986364,0.00006913365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.724318,"threshold_uncertainty_score":0.6792362,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005087110669336065,"score_gpt":0.2575994786305201,"score_spread":0.252512367961184,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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