{"id":"W4235593511","doi":"10.1101/2021.05.20.444828","title":"Rare copy number variants (CNVs) and breast cancer risk","year":2021,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Centre hospitalier universitaire de Québec; University of British Columbia; Queen's University; Institute of Aging; Amgen (Canada); Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"Medical Research and Materiel Command; Programme Grants for Applied Research; Instituto de Salud Carlos III; Cancer Council Western Australia; Cancer Council Tasmania; Medical Research Council; National Institute of Environmental Health Sciences; U.S. Army; National Health and Medical Research Council; Oulun Yliopisto; Deutsche Krebshilfe; Medizinischen Hochschule Hannover; Division of Cancer Prevention, National Cancer Institute; Norges Forskningsråd; Vetenskapsrådet; Stockholms Läns Landsting; Kuopion Yliopistollinen Sairaala; Karolinska Institutet; European Regional Development Fund; King's College London; Academy of Finland; Russian Foundation for Basic Research; Robert Bosch Stiftung; Freistaat Sachsen; Royal Society Te Apārangi; Agency for Science, Technology and Research; Canadian Institutes of Health Research; Cancer Council South Australia; Fonds Wetenschappelijk Onderzoek; Cancerfonden; National Cancer Institute; University College London; Cancer Institute NSW; Ovarian Cancer Research Fund; Bundesministerium für Bildung und Forschung; Swedish Cancer Foundation; National Breast Cancer Foundation; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; University of Cambridge; Government of Canada; National Institute for Health and Care Research; Itä-Suomen Yliopisto; Genome Canada; Lon V. Smith Foundation; Fondation du cancer du sein du Québec; National Institutes of Health; Deutsche Gesetzliche Unfallversicherung; Kreftforeningen; David F. and Margaret T. Grohne Family Foundation; Breast Cancer Research Foundation; Cancer Council Victoria; Ministry of Science and Higher Education of the Russian Federation; KWF Kankerbestrijding; Cancer Research UK; Deutsches Krebsforschungszentrum; U.S. Department of Health and Human Services; Oak Foundation; Cancer Council NSW; Susan G. Komen for the Cure","keywords":"Copy-number variation; Breast cancer; Gene duplication; Genetics; Biology; Gene; Genome; Genome-wide association study; Cancer; Single-nucleotide polymorphism; Genotype","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":[0.001112267,0.0002938532,0.0004520527,0.001402693,0.0002790611,0.0007616603,0.00030586,0.000398735,0.004840547],"category_scores_gemma":[0.006930987,0.0001559134,0.0003198689,0.001469203,0.0004233719,0.0003209304,0.0004920484,0.000365829,0.0004000243],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002701088,"about_ca_system_score_gemma":0.0001923579,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001569651,"about_ca_topic_score_gemma":0.001317956,"domain_scores_codex":[0.9989418,0.0002912687,0.00006544675,0.0003963484,0.0002064392,0.00009860051],"domain_scores_gemma":[0.9956013,0.003250727,0.0005851762,0.0002465112,0.0001495723,0.0001667299],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007700115,0.00004659923,0.9247739,0.0002934547,0.001235605,0.0008112581,0.0001611395,0.003208735,0.02016841,0.001675228,0.002164345,0.04469131],"study_design_scores_gemma":[0.00006877035,0.0001218809,0.969677,0.00006604397,0.0004181267,0.003053328,0.0001021502,0.006272433,0.007907922,0.007766361,0.004516738,0.00002920742],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9794708,0.004476033,0.007681104,0.0004870212,0.00004985329,0.00001777628,0.005814195,0.0002199932,0.001783141],"genre_scores_gemma":[0.994311,0.0005622827,0.002033853,0.00006844344,0.00006041351,0.00001391468,0.002459854,0.0000314638,0.000458687],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004840547,"threshold_uncertainty_score":0.01619327,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006132500111511324,"score_gpt":0.20669533526706,"score_spread":0.2005628351555487,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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