{"id":"W2119984878","doi":"10.1371/journal.pgen.1003723","title":"Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis","year":2013,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Inflammatory Bowel Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":217,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; McGill University Health Centre; Université de Montréal; Royal Victoria Regional Health Centre; University of Toronto; Royal Victoria Hospital; Montreal Heart Institute","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Cancer Institute; Universitaire Ziekenhuizen Leuven, KU Leuven; Canadian Institutes of Health Research; Institut de Cardiologie de Montréal; Svenska Läkaresällskapet; Radboud Universitair Medisch Centrum; Universitair Medisch Centrum Groningen; Karolinska Institutet; Emory University; Christian-Albrechts-Universität zu Kiel; Bundesministerium für Bildung und Forschung; Royal Canadian Geographical Society; Radboud Universiteit; Crohn's and Colitis Foundation; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; Broad Institute; Exzellenzclusters Entzündungsforschung; Crohn's and Colitis Foundation of Canada; Johns Hopkins University; University of Pittsburgh; Deutsche Forschungsgemeinschaft; Yale University; University of Toronto; National Center for Advancing Translational Sciences; Medical Research Council; Leids Universitair Medisch Centrum; Universiteit Leiden","keywords":"Genome-wide association study; Biology; Genetics; Inflammatory bowel disease; Genetic association; Genotyping; Locus (genetics); Ulcerative colitis; Disease; Genetic architecture; Single-nucleotide polymorphism; Gene; Genotype; Quantitative trait locus; 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":[0.0008404928,0.00044163,0.000545749,0.0009284671,0.0006601536,0.0005903505,0.0003691993,0.0004534725,0.001128892],"category_scores_gemma":[0.001700218,0.0001625049,0.0007934273,0.0009897777,0.0004634921,0.00007139422,0.0003397331,0.0004327997,0.000223332],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000771983,"about_ca_system_score_gemma":0.0007598736,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.05859663,"about_ca_topic_score_gemma":0.1303233,"domain_scores_codex":[0.9993962,0.00007806139,0.00004366425,0.0002199524,0.0001391278,0.0001228614],"domain_scores_gemma":[0.9993255,0.0002133092,0.0001785715,0.0001064766,0.00008934653,0.00008683821],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002617898,0.0001503692,0.7407062,0.000243372,0.002002392,0.00327538,0.0007912838,0.002759101,0.213794,0.0003735754,0.001077733,0.03220875],"study_design_scores_gemma":[0.0001137222,0.0002352178,0.9859801,0.00002071766,0.000506789,0.000995249,0.0001372174,0.001215894,0.008645097,0.0001578541,0.001966566,0.00002568817],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959628,0.0007313251,0.001673975,0.00005152961,0.00001700579,0.00002437192,0.00102501,0.00005828321,0.0004557369],"genre_scores_gemma":[0.9970297,0.0002074643,0.00141574,0.00008897446,0.00001121085,0.00001271474,0.0008727185,0.0000154595,0.0003461116],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05859663,"threshold_uncertainty_score":0.1165112,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01414124758716667,"score_gpt":0.2181356799301765,"score_spread":0.2039944323430098,"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."}}