{"id":"W4406801726","doi":"10.7554/elife.88149.3","title":"Risk factors affecting polygenic score performance across diverse cohorts","year":2025,"lang":"en","type":"article","venue":"eLife","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Columbia College","funders":"National Institutes of Health; University of Washington; Northwestern University; Columbia University; National Institute of Diabetes and Digestive and Kidney Diseases; Brigham and Women's Hospital; Vanderbilt University Medical Center; Mayo Clinic","keywords":"Biology; Polygenic risk score; Genetics; Computational biology; Evolutionary biology; Bioinformatics; Single-nucleotide polymorphism; Gene; Genotype","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":[0.008841507,0.0005003926,0.0006554954,0.000758391,0.0006620722,0.001058241,0.0004822908,0.0004793735,0.001538483],"category_scores_gemma":[0.01162951,0.0002683636,0.001177086,0.001097623,0.0007672657,0.0004312363,0.001086248,0.0007182977,0.0001467831],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002130169,"about_ca_system_score_gemma":0.0002636103,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007438681,"about_ca_topic_score_gemma":0.009361855,"domain_scores_codex":[0.9960304,0.002287287,0.0001999885,0.0009620429,0.0002415448,0.0002788363],"domain_scores_gemma":[0.9926978,0.003882914,0.000900978,0.00197385,0.0002565995,0.0002878828],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003453081,0.0000292665,0.9827673,0.00002206957,0.001462597,0.000159688,0.0004374568,0.002837343,0.003954986,0.0004723341,0.0001817331,0.007330009],"study_design_scores_gemma":[0.000006017028,0.00007749309,0.9940865,0.000005001915,0.0001488209,0.00009180749,0.00008389155,0.004645607,0.0002434308,0.0004226261,0.0001797971,0.000009006719],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943263,0.0001995034,0.004641416,0.00007094238,0.000008163031,0.00001348873,0.0003795521,0.00003081172,0.000329866],"genre_scores_gemma":[0.9986774,0.00004491944,0.0008645502,0.00001610817,0.000003357514,0.00001108259,0.0002779734,0.000009917748,0.00009460391],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008841507,"threshold_uncertainty_score":0.04675889,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01249559124990993,"score_gpt":0.2840229932988098,"score_spread":0.2715274020488999,"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."}}