{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001310728,0.0002984756,0.0004549229,0.0007534544,0.0008979329,0.001073049,0.0005597443,0.0005498792,0.00222671],"category_scores_gemma":[0.003268706,0.0003907676,0.0006044371,0.001229074,0.0003501295,0.0005634634,0.0008184602,0.0008770992,0.0003527977],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003526408,"about_ca_system_score_gemma":0.000433133,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009283877,"about_ca_topic_score_gemma":0.009279948,"domain_scores_codex":[0.9990683,0.0002515533,0.00009883688,0.0003867835,0.00009402793,0.0001005946],"domain_scores_gemma":[0.998081,0.000390369,0.0006536195,0.0004965163,0.0001484432,0.0002299276],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003737227,0.00006429469,0.9967279,0.000008872137,0.0002020566,0.0001115595,0.0001384857,0.00009264246,0.0009907619,0.00007916916,0.0004497843,0.0007607647],"study_design_scores_gemma":[0.00003317081,0.00006275161,0.9982721,0.000006867434,0.0001202735,0.0003168954,0.000228055,0.0004434019,0.0001153602,0.0000780308,0.0003161477,0.000006952236],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976714,0.00006247353,0.0001756063,0.00006078887,0.000006289507,0.000006640047,0.001840451,0.000006058125,0.0001702647],"genre_scores_gemma":[0.9981172,0.00004683097,0.000224089,0.00004004817,0.000008978754,0.00001578687,0.001296272,0.000006820455,0.0002440372],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009283877,"threshold_uncertainty_score":0.01845968,"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."}}