{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001081985,0.0004925463,0.0004768574,0.0009220018,0.0004801475,0.0009068288,0.0002188595,0.0006365342,0.00311303],"category_scores_gemma":[0.002323703,0.0002525792,0.0004633653,0.001057234,0.0004849441,0.0001765038,0.0004672434,0.0006151842,0.001007984],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001668092,"about_ca_system_score_gemma":0.0002251189,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001008593,"about_ca_topic_score_gemma":0.001256181,"domain_scores_codex":[0.9993259,0.0001371444,0.00005839063,0.0002575959,0.000159593,0.00006135443],"domain_scores_gemma":[0.9986589,0.0007391764,0.0002148515,0.0001805051,0.00008726236,0.000119242],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00227502,0.0002446633,0.590885,0.0007075436,0.001514578,0.004913125,0.001398636,0.004475359,0.2976958,0.002567202,0.01584326,0.07747991],"study_design_scores_gemma":[0.0003636833,0.0004308911,0.8886275,0.000155888,0.000665919,0.009949203,0.0005842195,0.006529515,0.03913442,0.006234293,0.04723861,0.00008579408],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9790434,0.001794167,0.005950056,0.0004155041,0.0001066543,0.0000198115,0.01104472,0.0002060569,0.00141973],"genre_scores_gemma":[0.9646152,0.0009598968,0.01090955,0.0004636904,0.0001413433,0.00003959659,0.01990656,0.0002190667,0.002745155],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00311303,"threshold_uncertainty_score":0.01041412,"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."}}