{"id":"W4205756350","doi":"10.1038/s41431-021-00987-7","title":"Polygenic risk modeling for prediction of epithelial ovarian cancer risk","year":2022,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Ovarian cancer diagnosis and treatment","field":"Medicine","cited_by":72,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université Laval; Royal Alexandra Hospital; Public Health Ontario; University of British Columbia; BC Cancer Agency; Alberta Health Services; Centre hospitalier universitaire de Québec; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; Vancouver General Hospital; Princess Margaret Cancer Centre; University of Toronto; University Health Network","funders":"Medical Research and Materiel Command; European Social Fund; National Center for Advancing Translational Sciences; National Institute of General Medical Sciences; NIHR Cambridge Biomedical Research Centre; Instituto de Salud Carlos III; World Cancer Research Fund; Medical Research Council; Canadian Institutes of Health Research; National Institutes of Health; BC Cancer Foundation; Pomorski Uniwersytet Medyczny W Szczecinie; Mutuelle Générale de l'Education Nationale; Institut Gustave-Roussy; Ministero dello Sviluppo Economico; Deutsche Krebshilfe; Norges Forskningsråd; Associazione Italiana per la Ricerca sul Cancro; National Health and Medical Research Council; Jewish General Hospital; Helse Vest; Ovarian Cancer Research Fund; Bundesministerium für Bildung und Forschung; Ministerio de Economía y Competitividad; Cancerfonden; National Cancer Institute; Peter MacCallum Foundation; University College London; Cancer Institute NSW; European Commission; Ovarian Cancer Action; Roswell Park Cancer Institute; National Institute for Health and Care Research; University of Cambridge; Fred C. and Katherine B. Andersen Foundation; NordForsk; Vetenskapsrådet; Georgia Clinical and Translational Science Alliance; Korea Health Industry Development Institute; Deutsches Krebsforschungszentrum; Vanderbilt University Medical Center; Institut National de la Santé et de la Recherche Médicale; Cancer Council Tasmania; Cedars-Sinai Medical Center; Swedish Cancer Foundation; Ovarian Cancer Australia; Lon V. Smith Foundation; Radboud Universiteit; Ministère du Développement Économique, de l’Innovation et de l’Exportation; U.S. Department of Defense; Cancer Research UK; Memorial Sloan-Kettering Cancer Center; Wellcome Trust; Kreftforeningen; Cancer Research Society; Ligue Contre le Cancer; Breast Cancer Research Foundation; McGill University; Univerzita Karlova v Praze; Mayo Foundation for Medical Education and Research; Cancer Council Victoria; Kræftens Bekæmpelse; University of Pittsburgh; Rutgers Cancer Institute of New Jersey; Hellenic Health Foundation; Ministry of Health, Labour and Welfare; Minnesota Ovarian Cancer Alliance; Moffitt Cancer Center; Vanderbilt University; Cancer Australia; Oak Foundation","keywords":"Logistic regression; Odds ratio; Single-nucleotide polymorphism; Ovarian cancer; Lasso (programming language); Oncology; Internal medicine; Medicine; Biology; Bioinformatics; Genotype; Cancer; Genetics; Computer science; Gene","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":[0.0008631159,0.0001203908,0.0002791924,0.0001387516,0.0002595451,0.00001135743,0.0001385225,0.00001359461,0.0002138491],"category_scores_gemma":[0.00002982806,0.0001058151,0.0002570699,0.00008638368,0.00002739172,0.00002401346,0.00005636407,0.000283909,0.000001368992],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001489669,"about_ca_system_score_gemma":0.0001413022,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002804473,"about_ca_topic_score_gemma":0.000005213771,"domain_scores_codex":[0.9984345,0.0002819995,0.0006453913,0.0001473319,0.0003320092,0.000158711],"domain_scores_gemma":[0.998736,0.0000290513,0.0007074447,0.0002102056,0.0002027293,0.0001145727],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"observational","study_design_scores_codex":[0.003567626,0.003061022,0.3793418,0.0002775984,0.005414458,0.0004334558,0.008518171,0.3913003,0.02708479,0.0002861014,0.01106387,0.1696509],"study_design_scores_gemma":[0.04970486,0.03761725,0.7724589,0.0006040305,0.01190648,0.0005849955,0.001791765,0.06793072,0.01051698,0.001483668,0.04468995,0.000710455],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9882572,0.004436027,0.004827675,0.0001975326,0.0006305096,0.0002792751,0.001053689,0.000009083311,0.0003090229],"genre_scores_gemma":[0.9937754,0.002082871,0.002916461,0.00005753901,0.0009931732,0.000009540541,0.00001563026,0.00005110601,0.00009825337],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3931171,"threshold_uncertainty_score":0.4315017,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03660178285032913,"score_gpt":0.2816710286850563,"score_spread":0.2450692458347272,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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