{"id":"W4304118598","doi":"10.1093/jnci/djac160","title":"Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci","year":2022,"lang":"en","type":"article","venue":"JNCI Journal of the National Cancer Institute","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University Health Network; University of British Columbia; University of Calgary","funders":"Medical Research and Materiel Command; National Institute of Environmental Health Sciences; National Center for Research Resources; National Institute of General Medical Sciences; National Center for Advancing Translational Sciences; Seventh Framework Programme; Celma Mastry Ovarian Cancer Foundation; Instituto de Salud Carlos III; National Health and Medical Research Council; National Institutes of Health; Institut Gustave-Roussy; National Human Genome Research Institute; Kræftens Bekæmpelse; Cancer Council Victoria; Deutsche Krebshilfe; Medical Research Council; Narodowe Centrum Nauki; Canadian Institutes of Health Research; Cancerfonden; National Cancer Institute; Peter MacCallum Foundation; Institut National de la Santé et de la Recherche Médicale; European Commission; Roswell Park Cancer Institute; National Institute for Health and Care Research; Associazione Italiana per la Ricerca sul Cancro; Tell Every Amazing Lady About Ovarian Cancer Louisa M. McGregor Ovarian Cancer Foundation; Cancer Research UK; U.S. Department of Defense; Lon V. Smith Foundation; Health and Medical Research Fund; Ovarian Cancer Research Fund; Bundesministerium für Bildung und Forschung; Ovarian Cancer Australia; Swedish Cancer Foundation; World Cancer Research Fund; World Health Organization; Wellcome Trust; National Research Council Sri Lanka; Fred C. and Katherine B. Andersen Foundation; Centre International de Recherche sur le Cancer; Ligue Contre le Cancer; Vanderbilt University Medical Center; Deutsches Krebsforschungszentrum; University of Pittsburgh; Mayo Foundation for Medical Education and Research; Minnesota Ovarian Cancer Alliance; Moffitt Cancer Center; Vanderbilt University; American Cancer Society; NordForsk; Vetenskapsrådet; Georgia Clinical and Translational Science Alliance; Cancer Australia; Svenska Forskningsrådet Formas; California Breast Cancer Research Program; Hellenic Health Foundation","keywords":"Allele; Genetics; Biology; Ovarian cancer; Copy-number variation; Cancer; Gene; Genome","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":[0.0003659719,0.0001194021,0.0001413476,0.00003454169,0.0006950593,0.00002915686,0.0002817342,0.00005639469,0.0004038585],"category_scores_gemma":[0.00009801616,0.00009230962,0.0001160758,0.0001011376,0.00008601105,0.00001858278,0.0002912384,0.0002500227,0.000001594453],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000290693,"about_ca_system_score_gemma":0.0005356868,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005312088,"about_ca_topic_score_gemma":0.0009784967,"domain_scores_codex":[0.9989121,0.0000848731,0.0002955663,0.0001567085,0.0004111882,0.0001395436],"domain_scores_gemma":[0.9988195,0.00001518239,0.0006746664,0.0001013924,0.0003292717,0.00006002071],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009416883,0.0003471216,0.7153826,0.00004481661,0.001666136,0.000009619458,0.0008185479,0.1562521,0.03631481,0.003960656,0.0824187,0.00184314],"study_design_scores_gemma":[0.002808465,0.0001166805,0.280328,0.00003292728,0.0002312908,0.0005326521,0.0002323356,0.0002323441,0.01184939,0.001380854,0.7019211,0.0003339554],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929727,0.001131726,0.0003847382,0.001188116,0.001536471,0.0001034454,0.001993051,0.00000278025,0.0006869294],"genre_scores_gemma":[0.9949247,0.001305974,0.0004160997,0.0005593867,0.001096248,0.00003140287,0.00002028445,0.00001233084,0.001633567],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6195024,"threshold_uncertainty_score":0.5345905,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0188734151356073,"score_gpt":0.270992574080282,"score_spread":0.2521191589446747,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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