{"id":"W2952495205","doi":"10.1371/journal.pone.0217846","title":"Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease","year":2019,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Inflammatory Bowel Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"Shared Health; Hospital for Sick Children; Public Health Ontario; George & Fay Yee Centre for Healthcare Innovation; University of Toronto; University of Manitoba","funders":"Mitacs; University of Manitoba; Health Sciences Centre Foundation","keywords":"Copy-number variation; Genome-wide association study; Genetics; Inflammatory bowel disease; SNP array; Biology; Population; Genetic association; Single-nucleotide polymorphism; Gene; Disease; Genome; Medicine; Genotype; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0006611868,0.0002372794,0.0003712337,0.001375948,0.0002226965,0.0004392645,0.0003147967,0.0004276753,0.0006868469],"category_scores_gemma":[0.002342154,0.0001395172,0.0002169872,0.001114983,0.0003117277,0.000127079,0.0002739021,0.0002585987,0.00009199372],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002698429,"about_ca_system_score_gemma":0.0001527692,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002048615,"about_ca_topic_score_gemma":0.002957567,"domain_scores_codex":[0.9993766,0.0001391641,0.00003976643,0.0002194494,0.0001646771,0.00006037846],"domain_scores_gemma":[0.998603,0.0006745029,0.0004577864,0.00006617562,0.0001197536,0.00007867526],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000662023,0.00003816515,0.9080946,0.00008003289,0.0004034992,0.000827288,0.0001364049,0.0008449124,0.07684092,0.0001403147,0.0002024937,0.01172936],"study_design_scores_gemma":[0.00001417012,0.00008275307,0.9931289,0.000007965867,0.0001234202,0.001275873,0.00004914965,0.001267768,0.003534753,0.0001292384,0.0003803987,0.000005632121],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980341,0.0005813921,0.000899268,0.00003108173,0.000003224185,0.000006514456,0.0002281326,0.00001912207,0.0001972338],"genre_scores_gemma":[0.9984782,0.0001295426,0.001011099,0.00002514941,0.000005879887,0.00000794892,0.0002677887,0.000004717419,0.00006973366],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002048615,"threshold_uncertainty_score":0.004073381,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00793086388167528,"score_gpt":0.2027508033864178,"score_spread":0.1948199395047425,"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."}}