{"id":"W3114140751","doi":"10.1053/j.gastro.2020.12.034","title":"Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort","year":2020,"lang":"en","type":"article","venue":"Gastroenterology","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Montreal Heart Institute; Mount Sinai Hospital","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Medical Research Council; Crohn's and Colitis Foundation; National Institutes of Health; Leona M. and Harry B. Helmsley Charitable Trust","keywords":"Biobank; Penetrance; Ethnic group; Cohort; Medicine; Genetics; Internal medicine; Biology; Political science; Phenotype; 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":[0.0003792515,0.0001088301,0.0003327403,0.00003753791,0.00003538348,0.000002555636,0.00006812193,0.0001304015,0.000002469249],"category_scores_gemma":[0.00005716851,0.0001095002,0.00003155879,0.00004914247,0.00007488,0.000001898339,0.00006404049,0.00009194874,4.205668e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001451571,"about_ca_system_score_gemma":0.00003186199,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000103265,"about_ca_topic_score_gemma":0.0007343967,"domain_scores_codex":[0.9987012,0.0003112115,0.0003587494,0.0003163052,0.00004222295,0.0002702889],"domain_scores_gemma":[0.9995579,0.00001543983,0.0001699948,0.0001303381,0.00002979601,0.00009657353],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001852151,0.00005092377,0.993055,0.0000899455,0.00003185354,0.000002692011,0.00006900008,0.0002151434,0.005866032,0.00001234979,0.0002162968,0.0002055168],"study_design_scores_gemma":[0.001986685,0.00118106,0.9858404,0.00001879767,0.00001256358,0.00002578642,0.00009932504,0.01048578,0.0001165144,0.000002360472,0.0001863816,0.00004434515],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9776263,0.001013452,0.0191033,0.001750962,0.00005750824,0.0002560086,0.0001741185,0.000008836837,0.000009463856],"genre_scores_gemma":[0.9957828,0.0002764652,0.002119396,0.001602535,0.00003611056,0.00002556199,0.0001446492,0.000009153441,0.000003357038],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01815642,"threshold_uncertainty_score":0.4465289,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01556226797734407,"score_gpt":0.2631750702874144,"score_spread":0.2476128023100704,"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."}}