{"id":"W3003402082","doi":"10.2337/db19-0831","title":"Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes","year":2020,"lang":"en","type":"article","venue":"Diabetes","topic":"Diabetes and associated disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":151,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; McGill University Health Centre; Impact; McGill University; McMaster University; Jewish General Hospital","funders":"Canadian Institutes of Health Research; National Institute of Diabetes and Digestive and Kidney Diseases; Fonds de Recherche du Québec - Santé; Juvenile Diabetes Research Foundation United States of America","keywords":"Minor allele frequency; Type 2 diabetes; PTPN22; Genetics; Single-nucleotide polymorphism; Biology; Genome-wide association study; Odds ratio; Genetic association; Imputation (statistics); Allele; Case-control study; Genotype; Diabetes mellitus; Gene; Medicine; Internal medicine; Endocrinology; Missing data","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":[0.004045892,0.001197055,0.0018322,0.001135928,0.0004792591,0.001746501,0.0007722798,0.001449494,0.002989955],"category_scores_gemma":[0.01005534,0.0006193473,0.0040753,0.002020375,0.0007650622,0.0006109949,0.0008059883,0.001489046,0.0003146998],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003148888,"about_ca_system_score_gemma":0.0003937983,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002782744,"about_ca_topic_score_gemma":0.003281534,"domain_scores_codex":[0.9957249,0.001579022,0.0004218382,0.00165568,0.000383082,0.0002354686],"domain_scores_gemma":[0.9932682,0.00457768,0.0009985063,0.0007929736,0.0002017967,0.0001608898],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005070752,0.0001252935,0.8249041,0.002337512,0.06831343,0.001797025,0.0003526045,0.00686276,0.01648513,0.001616197,0.002395725,0.06973942],"study_design_scores_gemma":[0.0005698226,0.0005331111,0.9069189,0.0006704521,0.06034211,0.002483834,0.0002395948,0.007896316,0.003445786,0.009056456,0.007745076,0.00009851515],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8498859,0.1141372,0.02521543,0.002266817,0.0005175074,0.0001027686,0.003427623,0.000502847,0.003943909],"genre_scores_gemma":[0.990409,0.005862539,0.002239739,0.0003556176,0.0001953387,0.00002566482,0.0006240574,0.00004833085,0.0002396174],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004045892,"threshold_uncertainty_score":0.02139693,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003049919683997183,"score_gpt":0.2057491873679467,"score_spread":0.2026992676839495,"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."}}