{"id":"W2794951237","doi":"10.1038/s41435-018-0015-2","title":"Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort","year":2018,"lang":"en","type":"article","venue":"Genes and Immunity","topic":"Inflammatory Bowel Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Dalhousie University; Hospital for Sick Children; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute of Mental Health; National Institutes of Health; Crohn's and Colitis Foundation","keywords":"Genome-wide association study; Biology; NOD2; Inflammatory bowel disease; Exome sequencing; Exome; Ulcerative colitis; Disease; Genetics; Genetic association; Genetic architecture; Single-nucleotide polymorphism; Gene; Genetic variation; Genotype; Mutation; Immune system; Phenotype; Medicine; Internal medicine","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":[0.0004623377,0.0003439819,0.0004878485,0.0007603535,0.000659236,0.0006221916,0.0002524355,0.0003196531,0.001875414],"category_scores_gemma":[0.001954065,0.0001986269,0.0004175792,0.00158952,0.0002692455,0.00020604,0.0006427891,0.0004741259,0.0002022628],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002942841,"about_ca_system_score_gemma":0.0004450059,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007350195,"about_ca_topic_score_gemma":0.005638119,"domain_scores_codex":[0.9995241,0.0000783242,0.00003769573,0.0001853401,0.0001050119,0.00006958809],"domain_scores_gemma":[0.9994667,0.0001310495,0.0002029299,0.00006690586,0.00005327164,0.00007918051],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004761484,0.00003669971,0.9858403,0.00002835223,0.0001856127,0.001411836,0.0002632326,0.0005172403,0.004191377,0.0002503659,0.0006467301,0.006152045],"study_design_scores_gemma":[0.0000267815,0.00008682247,0.9937326,0.00001659902,0.0001492224,0.002811855,0.000247634,0.0003976621,0.0005969843,0.0001830897,0.001743189,0.000007667549],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996995,0.0003283671,0.0003575217,0.00005517003,0.000004642308,0.000009311745,0.001888739,0.00001081488,0.0003504632],"genre_scores_gemma":[0.9957085,0.000524123,0.0008543113,0.00003922912,0.00000941621,0.00003154446,0.002607035,0.00001816196,0.0002076773],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007350195,"threshold_uncertainty_score":0.01461482,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007069592702107339,"score_gpt":0.2148298863625784,"score_spread":0.207760293660471,"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."}}