{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007540251,0.0003768555,0.0005454053,0.001312744,0.0005455012,0.001103489,0.0003950176,0.0005109975,0.001664843],"category_scores_gemma":[0.001730204,0.0002322106,0.0007085601,0.001675612,0.0004139948,0.000273263,0.00106075,0.0004968534,0.0001335207],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001919716,"about_ca_system_score_gemma":0.0002000509,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002592984,"about_ca_topic_score_gemma":0.002316801,"domain_scores_codex":[0.9992108,0.0002127386,0.00005895281,0.0003178999,0.0001069773,0.00009260685],"domain_scores_gemma":[0.9991593,0.0002877179,0.0002863342,0.0001301328,0.00004717713,0.00008935895],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004472036,0.00004940432,0.9588693,0.00005363903,0.001020964,0.0005015733,0.0003703123,0.001119017,0.02915071,0.0005664651,0.0002219298,0.00762944],"study_design_scores_gemma":[0.00001153434,0.00003881764,0.9959804,0.0000113742,0.0002021739,0.0003218419,0.000145777,0.001284383,0.0007330434,0.0009973047,0.000262976,0.00001032716],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971813,0.000406239,0.001592109,0.00005384614,0.000005708878,0.000009412016,0.000423748,0.00001699804,0.0003105829],"genre_scores_gemma":[0.9989147,0.0001134612,0.0005595486,0.00002246183,0.000008841991,0.000007362138,0.0003003575,0.000006212106,0.00006711276],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002592984,"threshold_uncertainty_score":0.005569458,"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). Scores rank; they never assert a category."}}