{"id":"W3117628517","doi":"10.1097/mpg.0000000000003017","title":"Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease","year":2020,"lang":"en","type":"review","venue":"Journal of Pediatric Gastroenterology and Nutrition","topic":"Inflammatory Bowel Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":140,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Crohn's and Colitis UK; UCB Pharma; Wellcome Trust; Celgene; Eli Lilly and Company; National Institute for Health and Care Research; Leona M. and Harry B. Helmsley Charitable Trust; Pfizer; New York Community Trust","keywords":"Medicine; Genetic testing; Inflammatory bowel disease; Hepatology; Pediatric gastroenterology; Exome sequencing; Disease; Intensive care medicine; Pediatrics; Internal medicine; Mutation; Genetics; 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":[0.0006074806,0.0002293651,0.0008194757,0.0001256028,0.00004473653,0.00000626263,0.0003144215,0.0002819654,0.000003236732],"category_scores_gemma":[0.0002933967,0.0001633157,0.001126522,0.00004253825,0.0001659395,0.000009131498,0.0001056172,0.0002598467,4.376706e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001694134,"about_ca_system_score_gemma":0.000283279,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":1.316187e-7,"about_ca_topic_score_gemma":0.000001550617,"domain_scores_codex":[0.997774,0.0002439957,0.00147176,0.000207903,0.0001177689,0.0001845841],"domain_scores_gemma":[0.9970718,0.0001676345,0.002135265,0.0002174936,0.0002152599,0.0001925534],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.02785701,0.00265541,0.7148886,0.08572915,0.004812003,0.0003081528,0.00006429571,0.00002927465,0.00004556915,0.00008804809,0.01779551,0.145727],"study_design_scores_gemma":[0.01404816,0.01111952,0.1470872,0.002358834,0.02967871,0.0003471966,0.00009303428,0.00005936886,0.00003370435,0.0005616579,0.7939116,0.0007010131],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.2087812,0.7896612,0.000339941,0.00006066209,0.0002574813,0.0006173975,0.0002802281,0.000001398087,4.671702e-7],"genre_scores_gemma":[0.01156295,0.9861311,0.0002172713,0.00005612483,0.001839832,0.00009435423,0.00007004623,0.00002677434,0.000001560335],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.776116,"threshold_uncertainty_score":0.6659822,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02096923596366559,"score_gpt":0.3001084532173265,"score_spread":0.2791392172536609,"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."}}