{"id":"W2793447384","doi":"10.1093/jcag/gwy009.013","title":"A13 WHOLE EXOME SEQUENCING OF OVER 1000 PEDIATRIC IBD PATIENTS FROM A SINGLE CENTRE IDENTIFIES MONOGENIC FORMS OF IBD.","year":2018,"lang":"en","type":"article","venue":"Journal of the Canadian Association of Gastroenterology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation","funders":"","keywords":"Exome sequencing; Exome; Computational biology; Medicine; Genetics; Biology; Mutation; 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":[0.0005280619,0.0003579,0.0004864406,0.001075153,0.000445953,0.0006325135,0.0003244668,0.0005047635,0.003059295],"category_scores_gemma":[0.001864582,0.0002353078,0.0003145531,0.001712855,0.0002031076,0.0002500637,0.0006984677,0.0003260548,0.0006685013],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002374011,"about_ca_system_score_gemma":0.0003265046,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002520767,"about_ca_topic_score_gemma":0.004474109,"domain_scores_codex":[0.9995073,0.000069734,0.00005945945,0.0001982116,0.0001178334,0.00004738758],"domain_scores_gemma":[0.9992031,0.0002405684,0.0002448109,0.00009229693,0.00010226,0.0001168902],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006294689,0.00006042507,0.9140593,0.0004994248,0.0004388643,0.008064122,0.001313398,0.0003683198,0.02932252,0.0002190937,0.008407776,0.03661733],"study_design_scores_gemma":[0.0000380007,0.0001421494,0.9718168,0.000109989,0.0001323889,0.01354,0.0003778594,0.0003418645,0.002206334,0.0001288941,0.01115172,0.00001391476],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9782916,0.002450205,0.001444902,0.000146393,0.00001974153,0.00007430781,0.01611799,0.00005913966,0.001395848],"genre_scores_gemma":[0.9703588,0.001624118,0.003374982,0.0002716666,0.00002843128,0.0001223506,0.02300262,0.00004889321,0.001168262],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003059295,"threshold_uncertainty_score":0.01023436,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005870204103675222,"score_gpt":0.1880086798192501,"score_spread":0.1821384757155749,"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."}}