{"id":"W4387823564","doi":"10.12688/wellcomeopenres.18754.1","title":"Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization","year":2023,"lang":"en","type":"preprint","venue":"Wellcome Open Research","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; McGill University","funders":"Biotechnology and Biological Sciences Research Council; National Heart, Lung, and Blood Institute; National Institute of Mental Health; Danish Agency for Science and Higher Education; Directorate for Biological Sciences; National Institutes of Health; Wellcome Trust; Universität Leipzig; National Center on Minority Health and Health Disparities; Manpei Suzuki Diabetes Foundation; Oulun Yliopisto; Medical Research Council; Leids Universitair Medisch Centrum; Augustinus Fonden; Diabetesforeningen; Vetenskapsrådet; ZonMw; Universiteit Leiden; European Commission; National Institute on Minority Health and Health Disparities; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Deutsche Forschungsgemeinschaft; Region Hovedstaden; Novo Nordisk; Royal Society; Agency for Science, Technology and Research; Helmholtz Zentrum München; American Diabetes Association; Forsknings- og Innovationsstyrelsen; Royal Society of Edinburgh; Academy of Finland; European Regional Development Fund; NHLBI Division of Intramural Research; National Institute on Aging; Helsefonden; Bundesministerium für Bildung und Forschung; University of Edinburgh; Massachusetts General Hospital; Centre for Cognitive Ageing and Cognitive Epidemiology; Biocenter, University of Oulu; National Institute for Health and Care Research; Hjerteforeningen; Age UK; National Institute of Diabetes and Digestive and Kidney Diseases; Tekes; Scottish Government; Sundhed og Sygdom, Det Frie Forskningsråd; Wake Forest University","keywords":"Prioritization; Exome sequencing; Effector; Scale (ratio); Exome; Computational biology; Glycemic; Statistics; Computer science; Biology; Gene; Genetics; Phenotype; Mathematics; Geography; Biotechnology; Engineering; Insulin; Immunology; Management science; Cartography","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.004679693,0.00034116,0.0006215664,0.0002780629,0.0004423616,0.0002707316,0.001743596,0.0007738631,0.00005509639],"category_scores_gemma":[0.001831842,0.0003551112,0.0001535012,0.000323919,0.0001075382,0.000004463629,0.002968937,0.0006171138,0.0002083882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000137223,"about_ca_system_score_gemma":0.000445106,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002715923,"about_ca_topic_score_gemma":0.0007623519,"domain_scores_codex":[0.9955542,0.000895958,0.0006348644,0.001352426,0.0004650436,0.001097501],"domain_scores_gemma":[0.9974031,0.0005240054,0.000191932,0.0008901981,0.0006736781,0.0003170303],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002260815,0.0004431283,0.01460031,0.001026825,0.0006001172,0.00001511831,0.00128977,0.004396917,0.2938436,0.0002706462,0.6772963,0.003956413],"study_design_scores_gemma":[0.004562108,0.003313447,0.08450322,0.0004579641,0.0001225406,0.000006882352,0.0009638526,0.001832986,0.0170227,0.009660649,0.8757905,0.001763136],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7797551,0.001226483,0.186953,0.003549131,0.001319421,0.01022308,0.01438772,0.00007531127,0.002510773],"genre_scores_gemma":[0.5109012,0.004869463,0.2910464,0.001524026,0.005634737,0.01119178,0.04252233,0.0008649977,0.1314451],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2768209,"threshold_uncertainty_score":0.9998901,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08342423511930132,"score_gpt":0.3946939643810032,"score_spread":0.3112697292617019,"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."}}