{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001956712,0.0001722937,0.0001066462,0.00006380988,0.0001620515,0.00003387059,0.0001377457,0.0001056536,0.00001655731],"category_scores_gemma":[0.00005640534,0.0001730134,0.0000334649,0.0000670121,0.0001643463,0.00000766646,0.0002687326,0.00007924131,0.00001049703],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009153558,"about_ca_system_score_gemma":0.0001234312,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003849519,"about_ca_topic_score_gemma":0.00005732369,"domain_scores_codex":[0.9990028,0.0001161134,0.0002150688,0.0003237216,0.00007786181,0.0002644227],"domain_scores_gemma":[0.9991949,0.000007043448,0.00006102824,0.0004410532,0.00007515876,0.0002208598],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002178787,0.00004796777,0.9623463,0.00006307806,0.00001821041,0.00004172002,0.00005832835,0.000004717233,0.03579796,0.00002902796,0.0001010872,0.001273691],"study_design_scores_gemma":[0.0005847779,0.00006789709,0.9973995,0.000006273413,0.00003753859,0.000009900586,0.00002735395,0.0002978102,0.0007764003,0.0001396883,0.0004346944,0.0002181545],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968365,0.002511411,0.00006477522,0.00001606465,0.00007234434,0.0002762993,0.00003655978,0.00001530874,0.0001707584],"genre_scores_gemma":[0.996968,0.002412932,0.0001053347,0.0001271686,0.0002433786,0.00004176272,0.00004226296,0.00002132927,0.00003788852],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03505318,"threshold_uncertainty_score":0.7055283,"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."}}