{"id":"W3161654335","doi":"10.21203/rs.3.rs-602209/v1","title":"Rare Copy Number Variants (CNVs) and Breast Cancer Risk","year":2021,"lang":"en","type":"preprint","venue":"Research Square","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval; Centre hospitalier de l'Université Laval; Centre hospitalier universitaire de Québec; University of British Columbia; Queen's University; Institute of Cancer Research; University of Toronto","funders":"Medical Research and Materiel Command; Servicio Gallego de Salud; Universitätsklinikum Hamburg-Eppendorf; Instituto de Salud Carlos III; Cancer Council Tasmania; World Cancer Research Fund; Medical Research Council; Canadian Institutes of Health Research; Manchester Biomedical Research Centre; National Institute of Environmental Health Sciences; U.S. Army; Imperial Experimental Cancer Medicine Centre; National Institutes of Health; Hellenic Health Foundation; Deutschen Konsortium für Translationale Krebsforschung; Xunta de Galicia; Mutuelle Générale de l'Education Nationale; Institut Gustave-Roussy; Ministero dello Sviluppo Economico; National Health and Medical Research Council; Oulun Yliopisto; Deutsche Krebshilfe; Centers for Disease Control and Prevention; Institut National Du Cancer; Leids Universitair Medisch Centrum; Associazione Italiana per la Ricerca sul Cancro; KWF Kankerbestrijding; Vetenskapsrådet; Ligue Contre le Cancer; University of Crete; Institut National de la Santé et de la Recherche Médicale; Cancer Council South Australia; American Cancer Society; Fonds Wetenschappelijk Onderzoek; Cancerfonden; National Cancer Institute; University College London; Cancer Institute NSW; Cancer Council Western Australia; European Commission; Research Promotion Foundation; Academy of Finland; King's College London; Eberhard Karls Universität Tübingen; Fondation du cancer du sein du Québec; Génome Québec; Ministerio de Economía y Competitividad; Ovarian Cancer Research Fund; Bundesministerium für Bildung und Forschung; National Breast Cancer Foundation; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Swedish Cancer Foundation; Agency for Science, Technology and Research; Lon V. Smith Foundation; Ministère du Développement Économique, de l’Innovation et de l’Exportation; University of California; Kreftforeningen; David F. and Margaret T. Grohne Family Foundation; Genome Canada; Sundhed og Sygdom, Det Frie Forskningsråd; Centre International de Recherche sur le Cancer; Deutsches Krebsforschungszentrum; Deutsche Gesetzliche Unfallversicherung; Deutsche Forschungsgemeinschaft; Gentofte Hospital; National Institute for Health and Care Research; Harvard T.H. Chan School of Public Health; Norges Forskningsråd; Division of Cancer Prevention, National Cancer Institute; Cancer Council Victoria; California Department of Public Health; Brigham and Women's Hospital; Cancer Australia; Agence Nationale de la Recherche; Rheinische Friedrich-Wilhelms-Universität Bonn; Oak Foundation; Ministerio de Sanidad, Servicios Sociales e Igualdad; Government of Canada; University of Cambridge; McGill University; Breast Cancer Research Foundation; Cancer Council NSW; Susan G. Komen for the Cure; Fondation de France; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; University of California, San Francisco; U.S. Department of Health and Human Services; Cancer Research UK; Stavros Niarchos Foundation; University of Southern California; Royal Society Te Apārangi","keywords":"Copy-number variation; Breast cancer; Genetics; Medicine; Cancer; Biology; 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":[0.0005962654,0.0003781843,0.0003935664,0.001419597,0.0002085742,0.0008129327,0.0003256907,0.000678175,0.006952995],"category_scores_gemma":[0.004150649,0.0002091683,0.0002849184,0.001414556,0.0004210097,0.0004554362,0.0004236143,0.0004229798,0.0007807465],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000247104,"about_ca_system_score_gemma":0.0001514804,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001039221,"about_ca_topic_score_gemma":0.0008025412,"domain_scores_codex":[0.9994884,0.0001545095,0.00002173372,0.0001453953,0.000141296,0.00004873616],"domain_scores_gemma":[0.9988133,0.0007856322,0.0001899359,0.00009122928,0.00004542868,0.00007443744],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004130282,0.0001746219,0.4717732,0.0006844367,0.001717936,0.007625583,0.0009471363,0.01829613,0.07457457,0.1081385,0.01831275,0.2936248],"study_design_scores_gemma":[0.0002478533,0.0002941145,0.5805494,0.0002363502,0.001027467,0.01859743,0.0005325716,0.03470662,0.02409736,0.2990539,0.04053544,0.0001214682],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9182458,0.01404833,0.03834611,0.003414313,0.0003141629,0.00002396799,0.005507669,0.0005634101,0.01953626],"genre_scores_gemma":[0.9870079,0.00215356,0.004329634,0.00008545343,0.0001949354,0.00001035814,0.00100108,0.00007444501,0.005142625],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006952995,"threshold_uncertainty_score":0.02326012,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02152530918700371,"score_gpt":0.3379293812953355,"score_spread":0.3164040721083318,"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."}}