{"id":"W2099399490","doi":"10.1371/journal.pone.0007154","title":"Genetic Variation in the Familial Mediterranean Fever Gene (MEFV) and Risk for Crohn's Disease and Ulcerative Colitis","year":2009,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Inflammasome and immune disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":60,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Université du Québec à Chicoutimi; Mount Sinai Hospital; Royal Victoria Hospital; University of Toronto; Ontario Institute for Cancer Research; McGill University and Génome Québec Innovation Centre; Jewish General Hospital; Montreal General Hospital; Montreal Heart Institute; Centre Hospitalier Universitaire de Sherbrooke; McGill University Health Centre","funders":"National Institute of Allergy and Infectious Diseases; Fonds De La Recherche Scientifique - FNRS; Vlaamse regering; National Institute of Diabetes and Digestive and Kidney Diseases; Crohn's and Colitis Foundation of Canada; McGill University; McGill University Health Centre; Wellcome Trust; Ontario Institute for Cancer Research; Crohn's and Colitis Foundation; Government of Ontario; Crohn's and Colitis Foundation of America","keywords":"MEFV; Familial Mediterranean fever; Haplotype; Single-nucleotide polymorphism; Allele; Pyrin domain; Ulcerative colitis; Genotype; Inflammatory bowel disease; Allele frequency; Genetics; Inflammasome; Candidate gene; Sanger sequencing; Genotyping; Biology; Medicine; Immunology; Gene; Internal medicine; Disease; Gene mutation; Mutation","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":[0.0001088899,0.00008779124,0.00008812522,0.00002137295,0.00008781837,0.00002648783,0.00005956203,0.00005579863,0.000003670318],"category_scores_gemma":[0.00009310454,0.00007281104,0.00002191735,0.00003150944,0.00004232963,0.000005185479,0.00001604935,0.00004727237,6.035711e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004461312,"about_ca_system_score_gemma":0.00002199688,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002363431,"about_ca_topic_score_gemma":0.00006666,"domain_scores_codex":[0.9994239,0.00006745283,0.0001114024,0.0001850538,0.00007841073,0.0001337382],"domain_scores_gemma":[0.9997395,0.00001627141,0.00003906994,0.0001325286,0.0000379803,0.00003460543],"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":[0.003696474,0.001814583,0.03307951,0.0001690128,0.0006439176,0.00003867452,0.007406671,0.00005107397,0.9187329,0.0002780163,0.00077733,0.03331187],"study_design_scores_gemma":[0.001158434,0.0002575688,0.9871672,0.00001210648,0.000108259,0.000001002655,0.00008290282,0.0005658656,0.009561065,0.0007810587,0.000184921,0.0001195868],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979624,0.0008438885,0.0002718854,0.0003039088,0.00001625803,0.000475957,0.00005997452,0.000003210462,0.00006251453],"genre_scores_gemma":[0.9969207,0.001649947,0.0006219891,0.0004323595,0.0001631314,0.00005665614,0.00008648801,0.000006961388,0.00006179264],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9540877,"threshold_uncertainty_score":0.2969148,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0130702274188985,"score_gpt":0.2168183767951334,"score_spread":0.2037481493762349,"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."}}