{"id":"W4410488951","doi":"10.1016/j.bneo.2025.100118","title":"Replication of a GWAS signal near HLA-DQA2 with AML using a disease-only cohort and external population-based controls","year":2025,"lang":"en","type":"article","venue":"Blood Neoplasia","topic":"T-cell and B-cell Immunology","field":"Immunology and Microbiology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute for Research in Immunology and Cancer; Centre Hospitalier Universitaire Sainte-Justine; Hôpital Maisonneuve-Rosemont; Université de Montréal; Montreal Heart Institute","funders":"Fondation Charles-Bruneau; Fondation Institut de Cardiologie de Montréal; Centre hospitalier universitaire Sainte-Justine; Canada Research Chairs; Fonds de Recherche du Québec - Santé; Cole Foundation; Ministère de l'Économie, de l’Innovation et des Exportations du Québec; Génome Québec; Canadian Institutes of Health Research; Alliance de recherche numérique du Canada; Genome Canada","keywords":"Replication (statistics); Human leukocyte antigen; Cohort; Genome-wide association study; Population; Disease; Medicine; Biology; Immunology; Genetics; Virology; Internal medicine; Environmental health; Gene; Single-nucleotide polymorphism; Antigen","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001493478,0.0001882993,0.0003561463,0.0001166828,0.0002088931,0.00002220594,0.0001434367,0.000174755,0.00010599],"category_scores_gemma":[0.00004927525,0.0001609551,0.00006646741,0.000161483,0.0002597991,0.00006170613,0.0000413149,0.0001793764,0.00001080833],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002095801,"about_ca_system_score_gemma":0.000298512,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005350741,"about_ca_topic_score_gemma":0.00005851495,"domain_scores_codex":[0.9987648,0.0001478596,0.0003433215,0.0004446459,0.00004339865,0.0002560026],"domain_scores_gemma":[0.9990324,0.0001713609,0.0002108268,0.0004676394,0.00008842348,0.00002937973],"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":[0.0006977669,0.0001897547,0.448438,0.00003274655,0.0002176529,0.000007065818,0.00002230084,0.00006864241,0.5489352,0.0004576153,0.00002572845,0.0009075538],"study_design_scores_gemma":[0.01041121,0.0005991012,0.7854164,0.0003760346,0.001455913,0.0002552032,0.00004766616,0.0008866034,0.1981964,0.000435546,0.001508175,0.0004117495],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953271,0.002654603,0.001047833,0.0001491397,0.0001067955,0.0004674066,0.00004006266,0.00005350754,0.000153581],"genre_scores_gemma":[0.9984491,0.00001542328,0.0006189182,0.0001679373,0.00001394648,0.00003009957,0.0001186814,0.00001416406,0.000571764],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3507388,"threshold_uncertainty_score":0.6563558,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006584351798126484,"score_gpt":0.2248328755712365,"score_spread":0.21824852377311,"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."}}