{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004974752,0.0002458929,0.0002022295,0.001200177,0.0001647637,0.0004780778,0.0003408434,0.0004128985,0.00420803],"category_scores_gemma":[0.004548387,0.0001489879,0.000270936,0.0008987868,0.0004270786,0.0003194024,0.0004345526,0.0003202119,0.0002402637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002219875,"about_ca_system_score_gemma":0.0001320179,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007661351,"about_ca_topic_score_gemma":0.000848432,"domain_scores_codex":[0.9995205,0.00006912075,0.00003931642,0.0001911053,0.000127566,0.00005225455],"domain_scores_gemma":[0.9974155,0.00137164,0.0008713416,0.0001076169,0.0001018802,0.0001320267],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008134652,0.00004703889,0.9342107,0.0001068316,0.0004368936,0.00096913,0.000153384,0.000750859,0.03915766,0.0004278811,0.0003433483,0.02258282],"study_design_scores_gemma":[0.00004431349,0.00009886568,0.9891409,0.00002131323,0.0002767455,0.002570018,0.0000695678,0.001765051,0.004324513,0.0008867183,0.0007899926,0.00001197108],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960818,0.001153837,0.001426654,0.00009627092,0.00001068926,0.000008887618,0.0003864969,0.00003758705,0.0007978652],"genre_scores_gemma":[0.9987159,0.0001882993,0.000610362,0.00002593852,0.00002197853,0.000006248643,0.0002264074,0.000008038826,0.0001968837],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00420803,"threshold_uncertainty_score":0.01407725,"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). Scores rank; they never assert a category."}}