{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001607139,0.0001617833,0.0003065168,0.00002641112,0.00003444063,0.000008890283,0.0002332698,0.000133599,0.00003428181],"category_scores_gemma":[0.0007848325,0.0001482219,0.0001286761,0.000212132,0.00006987538,0.000004921777,0.0001209876,0.00007863404,0.00001200501],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002930555,"about_ca_system_score_gemma":0.00003412732,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004719196,"about_ca_topic_score_gemma":9.016518e-7,"domain_scores_codex":[0.99891,0.0001202496,0.0002510296,0.0002653202,0.0001309941,0.0003224716],"domain_scores_gemma":[0.9992836,0.00005801054,0.0002127496,0.0002340709,0.0001217925,0.00008984451],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001054415,0.00003682305,0.5552855,0.00009278837,0.0001316491,1.829484e-7,0.00003014577,0.0001373872,0.4430293,0.000004917961,0.0003831517,0.000857523],"study_design_scores_gemma":[0.0007795383,0.001074604,0.2518996,0.00004165174,0.0001080148,2.060026e-8,0.00002197632,0.0004295037,0.7443085,0.0000490222,0.001090597,0.0001969874],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963,0.003022663,0.000006258892,0.00004166639,0.00006008901,0.0001508517,0.0001999746,0.00001238116,0.0002061412],"genre_scores_gemma":[0.9991869,0.0002030744,0.0001276496,0.0002991434,0.00004796666,0.000008875358,0.00009010256,0.0000235678,0.00001271426],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3033859,"threshold_uncertainty_score":0.6044313,"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."}}