{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001026373,0.0001738134,0.0002081808,0.00005551169,0.00005957487,0.00004460277,0.0001354738,0.000159738,0.00003508747],"category_scores_gemma":[0.0001768574,0.0001669832,0.00003486316,0.00008256304,0.0001629762,0.00001005522,0.0001106445,0.00009026042,0.00000455031],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003747255,"about_ca_system_score_gemma":0.00009702269,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003607097,"about_ca_topic_score_gemma":0.002051765,"domain_scores_codex":[0.9988393,0.0001556685,0.0002203552,0.0003055789,0.000208115,0.0002709866],"domain_scores_gemma":[0.9991381,0.00002211168,0.0001684817,0.0002888501,0.0002814448,0.0001009766],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003175068,0.0002117185,0.7439142,0.0002763076,0.0005189606,0.000295985,0.001849957,0.001027601,0.250612,0.00004276741,0.0006949403,0.0002381399],"study_design_scores_gemma":[0.0008400196,0.000105645,0.8430541,0.0001257438,0.0000535636,0.000005274721,0.00107696,0.001243023,0.1530237,0.0002155817,0.00001224579,0.0002441323],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985818,0.000453357,0.00003377589,0.00003696155,0.00002888939,0.0004268825,0.00006249532,0.000008982856,0.0003668653],"genre_scores_gemma":[0.9992895,0.0001192243,0.000153201,0.00007122151,0.00003946335,0.00005788058,0.00008781903,0.00003022086,0.0001514978],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09913989,"threshold_uncertainty_score":0.6809379,"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."}}