{"id":"W4388704591","doi":"10.1186/s13073-023-01244-w","title":"The role of admixture in the rare variant contribution to inflammatory bowel disease","year":2023,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institutes of Health; Leona M. and Harry B. Helmsley Charitable Trust","keywords":"Inflammatory bowel disease; Exome sequencing; Haplotype; Disease; Genome-wide association study; 1000 Genomes Project; Exome; Medicine; Allele frequency; Genetics; Odds ratio; Genetic association; Founder effect; Population; Crohn's disease; Cohort; Ancestry-informative marker; Allele; Biology; Genotype; Single-nucleotide polymorphism; Pathology; Gene; Phenotype; Environmental health","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":[],"consensus_categories":[],"category_scores_codex":[0.001101142,0.00007358224,0.0001073623,0.00003692678,0.00008887077,0.000002868718,0.0002178404,0.00006404443,0.000009744531],"category_scores_gemma":[0.00105475,0.00003991496,0.00003444013,0.0001738563,0.00006900056,7.320467e-7,0.00006588419,0.00006584309,0.00001394774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001135227,"about_ca_system_score_gemma":0.00005513522,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001762034,"about_ca_topic_score_gemma":0.00005383211,"domain_scores_codex":[0.9991479,0.000163872,0.0002278882,0.0001427355,0.0001082917,0.0002093253],"domain_scores_gemma":[0.9994096,0.00008169158,0.00007217994,0.0003003589,0.00007085653,0.00006538314],"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":[0.0006989749,0.0001245209,0.4116944,0.00006656387,0.0002509632,0.00007710823,0.004047003,0.004122389,0.5147399,0.01021105,0.04294941,0.01101769],"study_design_scores_gemma":[0.0003443236,0.0001356898,0.7954245,0.000009972157,0.00001633735,0.000002648131,0.0007747862,0.000130015,0.000173984,0.001608736,0.2013216,0.00005741979],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9817598,0.003801004,0.0002633692,0.01338147,0.0001250311,0.0003381133,0.00003282171,0.000006701721,0.0002916581],"genre_scores_gemma":[0.9979046,0.000499886,0.00001410057,0.0007973071,0.0002919649,0.0000605438,0.0002177571,0.000005810203,0.0002080302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5145659,"threshold_uncertainty_score":0.1627685,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005481884913771316,"score_gpt":0.2435277909390233,"score_spread":0.238045906025252,"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."}}