{"id":"W3175546635","doi":"10.1101/2021.06.15.21258641","title":"Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility","year":2021,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Inflammatory Bowel Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Montreal Heart Institute; McGill University Health Centre; Mount Sinai Hospital; University of Manitoba","funders":"National Institute of Mental Health; Medical Research Council; National Institutes of Health; NIHR Newcastle Biomedical Research Centre; Fonds De La Recherche Scientifique - FNRS; Inflammatory Bowel and Immunobiology Research Institute; National Institute of Diabetes and Digestive and Kidney Diseases; Stanley Center for Psychiatric Research, Broad Institute; Cedars-Sinai Medical Center; Deutsche Forschungsgemeinschaft; Leona M. and Harry B. Helmsley Charitable Trust; National Institute for Health and Care Research; European Regional Development Fund; European Commission; Broad Institute; National Human Genome Research Institute; NIHR Oxford Biomedical Research Centre; Wellcome Trust","keywords":"Genome-wide association study; Biology; Gene; Genetics; Genetic association; Disease; Genome; Computational biology; Population; Single-nucleotide polymorphism; Genotype; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004852882,0.0003694163,0.0003942788,0.00007069119,0.00009751978,0.0001045767,0.0002978547,0.0003402813,0.00009477811],"category_scores_gemma":[0.001041093,0.0003519317,0.0001651765,0.00007814077,0.0002589652,0.00001089997,0.000902781,0.0002204635,9.355341e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005141313,"about_ca_system_score_gemma":0.0006645994,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009514459,"about_ca_topic_score_gemma":0.000806471,"domain_scores_codex":[0.9976693,0.0003544339,0.0004336562,0.0008867036,0.000343075,0.0003127661],"domain_scores_gemma":[0.998037,0.00004540491,0.000381126,0.0009608183,0.0003294306,0.0002462503],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001534858,0.00009669982,0.9000102,0.0004707854,0.0003703996,0.0002658157,0.0002371909,0.0003119504,0.0979853,0.000002332699,0.00005101104,0.00004486041],"study_design_scores_gemma":[0.0006619775,0.00002563726,0.9743663,0.000295057,0.0002266677,0.000002142351,0.0001236234,0.0001584794,0.02366383,0.00006619042,0.00002630169,0.0003837675],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967528,0.001212118,0.00009311843,0.00001524006,0.0001853795,0.0004665888,0.001207504,0.00002614082,0.00004113221],"genre_scores_gemma":[0.9979345,0.0001550662,0.0001396848,0.00005315232,0.00009668296,0.00006055625,0.00132695,0.00005163858,0.0001818134],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07435616,"threshold_uncertainty_score":0.9998932,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01669752540001407,"score_gpt":0.2482262514413339,"score_spread":0.2315287260413198,"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."}}