{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005012554,0.0001296087,0.0004634408,0.0003070951,0.0001363272,0.000007766387,0.0004523217,0.0002180033,0.0002181834],"category_scores_gemma":[0.0002812619,0.0001049529,0.0002894661,0.0001657421,0.000193938,0.0001497017,0.0000586388,0.0002569734,0.00001160044],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005415395,"about_ca_system_score_gemma":0.0003105572,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00580268,"about_ca_topic_score_gemma":0.04062704,"domain_scores_codex":[0.9981717,0.0003102604,0.0008980085,0.0001129889,0.0001260497,0.0003809807],"domain_scores_gemma":[0.9966252,0.00008688364,0.002456204,0.0002028679,0.0006073294,0.00002147583],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002695239,0.0001494455,0.9171878,0.0000149781,0.0004039389,6.609093e-7,0.001788755,0.00003549176,0.07843596,0.00001806212,0.001530914,0.0001644466],"study_design_scores_gemma":[0.003478369,0.001037453,0.9712516,0.00007264141,0.0002744951,0.000007182215,0.0007654896,0.000006859411,0.02153044,0.0003320874,0.001147681,0.00009569849],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997306,0.0004387185,0.00001187966,0.0004898268,0.001342993,0.000100503,0.0001982855,0.000002517019,0.000109222],"genre_scores_gemma":[0.9993343,0.00001981378,0.00001200487,0.0001756746,0.00002045271,4.580253e-7,0.00002603648,0.00001049882,0.0004006992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05690552,"threshold_uncertainty_score":0.976879,"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."}}