{"id":"W3213330452","doi":"10.1053/j.gastro.2021.11.014","title":"An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease","year":2021,"lang":"en","type":"article","venue":"Gastroenterology","topic":"Inflammatory Bowel Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":94,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"UCB Pharma; Canadian Institutes of Health Research; Klarman Cell Observatory, Broad Institute; Charité – Universitätsmedizin Berlin; Deutsche Forschungsgemeinschaft; Manton Foundation; Medical Research Council; Biogen; Celgene; Howard Hughes Medical Institute; Kennedy Trust for Rheumatology Research; NIHR Oxford Biomedical Research Centre; Canada Excellence Research Chairs, Government of Canada; Wellcome Trust; Division of Diabetes, Endocrinology, and Metabolic Diseases; National Institute for Health and Care Research; Leona M. and Harry B. Helmsley Charitable Trust; Cystic Fibrosis Trust; National Institute of Diabetes and Digestive and Kidney Diseases; Amgen; Eli Lilly and Company","keywords":"Biology; Phenotype; Inflammatory bowel disease; Penetrance; Gene; Computational biology; Immune system; Genetics; Proteome; Disease; Immunology; Medicine","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":[0.0001722714,0.0002203898,0.0001468002,0.00004738273,0.00008668741,0.00002828403,0.0002526304,0.0001220649,0.00008348331],"category_scores_gemma":[0.0001345854,0.0002404634,0.0001898189,0.00002789136,0.0001127823,0.000009576735,0.00009966201,0.00008808771,0.00002152126],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003335434,"about_ca_system_score_gemma":0.0003204645,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001280302,"about_ca_topic_score_gemma":0.0001510231,"domain_scores_codex":[0.9984034,0.0001923159,0.0002724128,0.0005618961,0.00009536467,0.0004745993],"domain_scores_gemma":[0.9985472,0.000006406231,0.00008909089,0.0006773027,0.0003127677,0.0003672075],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007048335,0.0004390066,0.8291816,0.0001023773,0.0002892551,0.0005753848,0.00002662415,0.001059236,0.1472826,0.0002315597,0.01276829,0.0009957254],"study_design_scores_gemma":[0.005127235,0.0009180391,0.8363354,0.00001993569,0.0001801889,0.00008760543,0.0001799853,0.001906529,0.01129914,0.0001850011,0.1432574,0.0005035085],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9798389,0.00009875784,0.01891691,0.0001495957,0.0002876317,0.0004135853,0.0002022403,0.00003807236,0.00005427892],"genre_scores_gemma":[0.9930229,0.00002069895,0.002729404,0.001727951,0.0003637002,0.0005748223,0.001275158,0.00004569143,0.0002397268],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1359835,"threshold_uncertainty_score":0.9805812,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009273361652593685,"score_gpt":0.2290552323989483,"score_spread":0.2197818707463546,"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."}}