{"id":"W2164978844","doi":"10.1038/ncomms6897","title":"Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility","year":2015,"lang":"en","type":"article","venue":"Nature Communications","topic":"Receptor Mechanisms and Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":201,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke","funders":"FP7 Ideas: European Research Council; Laboratory Directed Research and Development; National Institute of Neurological Disorders and Stroke; National Institute of Nursing Research; National Institute on Deafness and Other Communication Disorders; National Human Genome Research Institute; Biomedical Research Council; Wake Forest School of Medicine; National Heart, Lung, and Blood Institute; Kaiser Foundation Research Institute; National Institutes of Health; Diabetesforeningen; H. Lundbeck A/S; Hjartavernd; Novo Nordisk Foundation Center for Basic Metabolic Research; Harokopio University; Medical Research Council; Uppsala Universitet; Deutsche Krebshilfe; NHLBI Division of Intramural Research; National Institute on Aging; Helsefonden; National Center for Research Resources; National and Kapodistrian University of Athens; Stockholms Läns Landsting; Centre for Medical Systems Biology; Novo Nordisk; Karolinska Institutet; Tore Nilsons Stiftelse för Medicinsk Forskning; Hjärt-Lungfonden; Ministero della Salute; Fondazione Cariplo; Chief Scientist Office, Scottish Government Health and Social Care Directorate; British Heart Foundation; Bundesministerium für Bildung und Forschung; ZonMw; National Science Foundation; Fondation Leducq; National Medical Research Council; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; University of Glasgow; Russian Foundation for Basic Research; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; University of Exeter; Diabetes UK; National Eye Institute; National Institute for Health and Care Research; Swedish e-Science Research Centre; Cedars-Sinai Medical Center; Scottish Government; National Cancer Institute; Lundbeckfonden; Donald W. Reynolds Foundation; Eli Lilly and Company; University of Alabama; Imperial College Healthcare NHS Trust; Wellcome Trust; University of Alabama at Birmingham; National Center for Advancing Translational Sciences; Università degli Studi di Verona; Magnus Bergvalls Stiftelse; Hjerteforeningen; National Institute on Minority Health and Health Disparities; AstraZeneca; University of Aberdeen; European Commission; Augustinus Fonden; Compagnia di San Paolo; Vetenskapsrådet; University of Minnesota; Wake Forest University; Northwestern University; Sanofi; Imperial College London; Research to Prevent Blindness; University of California, San Francisco; GlaxoSmithKline; National Institute of Diabetes and Digestive and Kidney Diseases; Knut och Alice Wallenbergs Stiftelse; Scottish Funding Council; Stiftelsen för Gamla Tjänarinnor; Erasmus Universiteit Rotterdam; Johns Hopkins University; Chinese Society of Clinical Oncology; Amgen; Erasmus Medisch Centrum; U.S. Environmental Protection Agency; University of Dundee; Andrea and Charles Bronfman Philanthropies","keywords":"Exome; Type 2 diabetes; Exome sequencing; Diabetes mellitus; Medicine; Genetics; Mutation; Bioinformatics; Endocrinology; Internal medicine; Biology; Gene","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":[0.0003277858,0.0001039744,0.0001111985,0.00002093272,0.0001660842,0.00004196716,0.0002487269,0.0002166215,0.000005541271],"category_scores_gemma":[0.0003321387,0.00008762322,0.00001486078,0.00009358715,0.0000856311,0.000008841939,0.0002417014,0.000285663,0.000001223892],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001353625,"about_ca_system_score_gemma":0.00006238079,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001141116,"about_ca_topic_score_gemma":0.0002033104,"domain_scores_codex":[0.999354,0.0001110203,0.0001106528,0.0002009329,0.00008095383,0.0001424411],"domain_scores_gemma":[0.9989552,0.00003859556,0.00007119566,0.0006276518,0.0002113074,0.00009600605],"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":[0.00003254766,0.0001083211,0.08923843,0.00002292779,0.00009615539,8.889394e-7,0.0003281575,0.000004465648,0.9044828,0.001571366,0.0003981762,0.003715791],"study_design_scores_gemma":[0.006653048,0.003342411,0.2704993,0.0005169273,0.0003814596,0.00007781719,0.002824324,0.002192951,0.6706216,0.01258481,0.02760216,0.002703177],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9866674,0.01204399,0.00005054472,0.0004015877,0.00005921211,0.0001236774,0.00002114665,0.00001564594,0.0006168078],"genre_scores_gemma":[0.9924769,0.0004859867,0.006572298,0.0001754398,0.00004018042,0.000008552284,0.0001822245,0.00001374015,0.00004463126],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2338612,"threshold_uncertainty_score":0.3573171,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01768372630074735,"score_gpt":0.2619570376297991,"score_spread":0.2442733113290518,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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