{"id":"W2097804771","doi":"10.1038/ng.952","title":"Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease","year":2011,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Inflammatory Bowel Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":785,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Mount Sinai Hospital; Université de Montréal; Montreal Heart Institute","funders":"National Center for Research Resources; National Human Genome Research Institute; Canadian Institutes of Health Research; National Institutes of Health; National Institute of Allergy and Infectious Diseases; Institut de Cardiologie de Montréal; Exzellenzclusters Entzündungsforschung; Vetenskapsrådet; Crohn's and Colitis UK; Leona M. and Harry B. Helmsley Charitable Trust; Örebro Universitet; Cedars-Sinai Medical Center; Deutsche Forschungsgemeinschaft; National Institute of Diabetes and Digestive and Kidney Diseases; Crohn's and Colitis Foundation of Canada; Universitetssjukhuset Örebro; Broad Institute; Crohn's and Colitis Foundation; Crohn's and Colitis Foundation of America","keywords":"Genome-wide association study; Biology; Inflammatory bowel disease; Genotyping; Genetics; Genetic association; PTPN22; Odds ratio; Disease; Case-control study; NOD2; Single-nucleotide polymorphism; Gene; Genotype; Medicine; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000926046,0.0004542324,0.0006756728,0.001368943,0.0005826295,0.001013783,0.0004415752,0.0006969204,0.00160314],"category_scores_gemma":[0.001864993,0.0004170889,0.00095176,0.0008355938,0.0004303591,0.0001742812,0.0006861976,0.001035502,0.0003557967],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002563071,"about_ca_system_score_gemma":0.0002974952,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0015157,"about_ca_topic_score_gemma":0.005699254,"domain_scores_codex":[0.9993217,0.0001467251,0.00005969065,0.0001963702,0.0001532837,0.0001221673],"domain_scores_gemma":[0.9987062,0.0007476614,0.0001781514,0.0001787697,0.00006651648,0.0001226414],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.003689282,0.0003140229,0.2125731,0.0002062539,0.002065893,0.003454143,0.000611838,0.004254183,0.7137375,0.00288379,0.002149355,0.05406068],"study_design_scores_gemma":[0.0005164006,0.0005283798,0.9103134,0.00008218811,0.001967052,0.004624383,0.0002700625,0.01942013,0.04783901,0.005346694,0.008969354,0.0001229909],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898211,0.0004092155,0.00695148,0.0001614775,0.00004625467,0.00002702827,0.001424648,0.00008587895,0.001072963],"genre_scores_gemma":[0.9936541,0.0001346803,0.003750386,0.000192422,0.0000375018,0.00001856938,0.001483657,0.00005294102,0.000675643],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00160314,"threshold_uncertainty_score":0.005362988,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008528298562396336,"score_gpt":0.2242649213736974,"score_spread":0.215736622811301,"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."}}