{"id":"W3208185303","doi":"10.14309/ctg.0000000000000263","title":"Utilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease","year":2020,"lang":"en","type":"article","venue":"Clinical and Translational Gastroenterology","topic":"Pharmacogenetics and Drug Metabolism","field":"Pharmacology, Toxicology and Pharmaceutics","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research","keywords":"Medicine; Pharmacogenomics; Exome sequencing; Inflammatory bowel disease; Exome; Disease; Cohort; Bioinformatics; Internal medicine; Gene; Genetics; Mutation; Pharmacology","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":[0.001755636,0.0002206072,0.0004631777,0.0001365411,0.00006711627,0.00001134658,0.0005308327,0.0001985133,0.0002084927],"category_scores_gemma":[0.0003713047,0.0002269476,0.0001108969,0.0001763319,0.0002471313,0.0001590721,0.0002606392,0.0006853358,0.00005185139],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006862688,"about_ca_system_score_gemma":0.0002002639,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002298347,"about_ca_topic_score_gemma":0.000008415347,"domain_scores_codex":[0.9961804,0.0008958748,0.001618766,0.0007223733,0.0001876982,0.0003949278],"domain_scores_gemma":[0.9980489,0.0005566395,0.0002666871,0.0002403881,0.00009167047,0.0007957382],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003924258,0.0003020364,0.9796672,0.0001174282,0.00009692927,0.00006685705,0.0002803417,0.002706343,0.007019533,0.00009990963,0.0003656395,0.005353567],"study_design_scores_gemma":[0.005168547,0.0002193839,0.9469173,0.00001089246,0.0003380302,0.000005488373,0.00001603556,0.04105802,0.00006142815,0.000516166,0.005534506,0.0001542272],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886295,0.0007956908,0.001913209,0.006654971,0.0007469658,0.0004527716,0.0007312962,0.00002767981,0.00004786962],"genre_scores_gemma":[0.9877769,0.002091512,0.0007594517,0.008433729,0.0006704027,0.00001703285,0.0002187384,0.00002307322,0.000009179708],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03835168,"threshold_uncertainty_score":0.9254656,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2967580636571204,"score_gpt":0.4826146700926952,"score_spread":0.1858566064355748,"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."}}