{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003123006,0.0003798456,0.0006252758,0.002116527,0.0003151742,0.000817761,0.0003410176,0.0003167973,0.001284188],"category_scores_gemma":[0.007757005,0.0001947368,0.001020143,0.001501119,0.0005398358,0.000278401,0.0009552313,0.0004234322,0.0001123562],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002371283,"about_ca_system_score_gemma":0.0002155631,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002565651,"about_ca_topic_score_gemma":0.00203751,"domain_scores_codex":[0.9983909,0.0007056049,0.0001405376,0.000489204,0.0001658281,0.0001079547],"domain_scores_gemma":[0.9926937,0.005086828,0.001008862,0.0007362161,0.0002946116,0.0001797409],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000419673,0.00002451432,0.9708334,0.00005121423,0.001159595,0.0001900389,0.0001213807,0.008857917,0.006972964,0.0005201302,0.0001437996,0.01070528],"study_design_scores_gemma":[0.0000520853,0.0001187547,0.9627526,0.00002140745,0.0006572534,0.0003573111,0.0001013287,0.03086679,0.002081262,0.002426555,0.000536737,0.00002781592],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921682,0.0002307366,0.006729078,0.00003555522,0.000002479475,0.00000735301,0.0006003859,0.00004002514,0.000186174],"genre_scores_gemma":[0.9968972,0.00005221456,0.002273545,0.000009018999,0.000003030465,0.000005904974,0.0007004832,0.000007427717,0.00005104979],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003123006,"threshold_uncertainty_score":0.01651621,"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."}}