{"id":"W4405870529","doi":"10.1186/s13058-024-01947-x","title":"Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction","year":2024,"lang":"en","type":"article","venue":"Breast Cancer Research","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Centre hospitalier universitaire de Québec; BC Cancer Agency; Queen's University; Université Laval; Université de Montréal; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"National Cancer Institute; Cancer Council Victoria; Medical Research Council; Vanderbilt-Ingram Cancer Center; University of Melbourne; Universität zu Köln; Monash University; National Institutes of Health; Universiteit Leiden; Leids Universitair Medisch Centrum; School of Medicine, Vanderbilt University; Cedars-Sinai Medical Center; Vanderbilt University; King's College London; Universitätsklinikum Köln","keywords":"Breast cancer; Surgical oncology; Polygenic risk score; Medicine; Oncology; Demography; Internal medicine; Cancer; Biology; Genetics; 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":[0.007186745,0.000447537,0.0008105371,0.0009567752,0.0004303195,0.00137402,0.0005267449,0.000611082,0.001888388],"category_scores_gemma":[0.01957476,0.0002723483,0.001154093,0.002489694,0.0007464866,0.0007864595,0.0009436538,0.0008121456,0.0002459794],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003217039,"about_ca_system_score_gemma":0.0003370825,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004385046,"about_ca_topic_score_gemma":0.00315948,"domain_scores_codex":[0.9955667,0.002698423,0.0002908017,0.0009752036,0.0002569347,0.000211944],"domain_scores_gemma":[0.9912443,0.005131078,0.001483536,0.001506895,0.0004025765,0.0002316255],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006676433,0.00004132418,0.9506336,0.00006816156,0.001462963,0.0003612171,0.0007613427,0.005097608,0.002528956,0.001653019,0.0007756665,0.03594847],"study_design_scores_gemma":[0.00003211566,0.00009159908,0.9794113,0.00004657323,0.0002788955,0.0004713276,0.0002763171,0.0113692,0.0005285621,0.006400395,0.001056545,0.00003708898],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9749537,0.0008238847,0.02083502,0.0004879749,0.00002606138,0.00002944072,0.001299635,0.00007337848,0.001470914],"genre_scores_gemma":[0.995931,0.0001269703,0.00306375,0.00008535366,0.00001142659,0.00001975889,0.0006222416,0.00002727562,0.0001122328],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007186745,"threshold_uncertainty_score":0.03800756,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.104838416644433,"score_gpt":0.434668324502241,"score_spread":0.329829907857808,"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."}}