{"id":"W2968392819","doi":"10.1101/723825","title":"Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sinai Health System; Université Laval; Lunenfeld-Tanenbaum Research Institute; Centre hospitalier universitaire de Québec","funders":"School of Medicine; Division of Cancer Epidemiology and Genetics, National Cancer Institute; University of California, San Francisco; University of Texas MD Anderson Cancer Center; School of Medicine, Case Western Reserve University; National Institutes of Health; National Human Genome Research Institute; Danmarks Tekniske Universitet; Umeå Universitet; Karolinska Institutet; Gentofte Hospital; Harvard T.H. Chan School of Public Health; Sidney Kimmel Comprehensive Cancer Center; School of Public Health, University of Michigan; School of Medicine, University of California, San Francisco; World Health Organization; Case Comprehensive Cancer Center, Case Western Reserve University; National Cancer Institute; Case Western Reserve University; Emory University; University of Pennsylvania; Cedars-Sinai Medical Center; Rigshospitalet; Johns Hopkins University; Yale University","keywords":"Genome-wide association study; Heritability; Breast cancer; Prostate cancer; Genetic architecture; Ovarian cancer; Oncology; Genetic association; Cancer; Biology; Lung cancer; Medicine; Percentile; Internal medicine; Quantitative trait locus; Single-nucleotide polymorphism; Genetics; Genotype; Statistics; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0008084745,0.0003534803,0.0005071842,0.00008576073,0.0001207973,0.00003171905,0.0002751566,0.000725525,0.000007741556],"category_scores_gemma":[0.0001892653,0.0003592758,0.0001428134,0.0001105357,0.0001068696,0.000002573632,0.0002989867,0.0005246331,0.000001903411],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001449816,"about_ca_system_score_gemma":0.0006233028,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003113507,"about_ca_topic_score_gemma":0.00003617556,"domain_scores_codex":[0.997833,0.0003352561,0.0004583868,0.000783142,0.0001980346,0.0003921446],"domain_scores_gemma":[0.9979553,0.00006384287,0.0006583342,0.001011885,0.0001828087,0.0001277912],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004635455,0.00007128312,0.7786786,0.0001303634,0.0003000319,0.000001369434,0.000004841836,0.03624152,0.184299,0.00001372872,0.0002018468,0.00001104722],"study_design_scores_gemma":[0.0006532301,0.0003109098,0.9779113,0.0001010709,0.0001183771,1.210467e-8,0.000003059017,0.01082967,0.009173997,0.000002318957,0.0005930801,0.0003029961],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9862426,0.0004277738,0.01004359,0.00008858922,0.0006195381,0.0005224712,0.002006402,0.00002790467,0.00002115419],"genre_scores_gemma":[0.9938253,0.0006630049,0.004953342,0.000155616,0.0002494098,0.00008284346,0.000007546731,0.0000576933,0.000005208582],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1992327,"threshold_uncertainty_score":0.9998859,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008627629006237965,"score_gpt":0.2540329242730894,"score_spread":0.2454052952668514,"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."}}