{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003277258,0.0004337189,0.0003849154,0.0004917654,0.0002728683,0.0005354066,0.000363029,0.0006667331,0.003445505],"category_scores_gemma":[0.001538047,0.0001450387,0.0005300824,0.0006755081,0.0003147109,0.0001348039,0.0003031031,0.0004323244,0.0003215024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001402987,"about_ca_system_score_gemma":0.000108929,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001944205,"about_ca_topic_score_gemma":0.003070629,"domain_scores_codex":[0.999485,0.00008862396,0.00004807541,0.0002502567,0.00007666262,0.00005148952],"domain_scores_gemma":[0.9990758,0.0003881382,0.0003071558,0.00008499624,0.00005042233,0.00009349854],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001548259,0.00007265562,0.9262626,0.000102588,0.001333541,0.001352179,0.0001865343,0.0006156933,0.05270952,0.000284636,0.0007792992,0.01475252],"study_design_scores_gemma":[0.00004706301,0.00009898167,0.9934408,0.00001657213,0.0003064779,0.00169702,0.00006643655,0.0009610368,0.002298916,0.0003221284,0.0007301758,0.00001439054],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962711,0.0006987593,0.001300883,0.0001060861,0.00002418947,0.000005158031,0.001091748,0.00003617688,0.0004657404],"genre_scores_gemma":[0.9980403,0.000161252,0.0005751856,0.00008972322,0.00002482651,0.000008970017,0.0006827544,0.0000132566,0.0004037794],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003445505,"threshold_uncertainty_score":0.01152635,"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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