{"id":"W2412990135","doi":"10.1038/ncomms12675","title":"Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus","year":2016,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":96,"is_retracted":false,"has_abstract":true,"ca_institutions":"Public Health Ontario; McGill University; Université Laval; Centre hospitalier universitaire de Québec; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; University Health Network; Royal Victoria Hospital; University of Toronto","funders":"Medical Research and Materiel Command; Jonsson Comprehensive Cancer Center; NIH Office of the Director; National Cancer Institute; European Regional Development Fund; Norway Grants; Instituto de Salud Carlos III; Cancer Council NSW; Cancer Council Victoria; Cancer Center, University of Kansas; University of California, San Francisco; National Institutes of Health; lékařská fakulta Univerzity Karlovy; Institut Català de la Salut; Deutschen Konsortium für Translationale Krebsforschung; Liga Portuguesa Contra o Cancro; Universität Ulm; Ministero dello Sviluppo Economico; Uppsala Universitet; National Health and Medical Research Council; Deutsche Krebshilfe; Royal Marsden NHS Foundation Trust; Sahlgrenska Universitetssjukhuset; Cancer Institute NSW; Medizinischen Hochschule Hannover; National Medical Research Council; Norges Forskningsråd; Cancer Council South Australia; Istituto Oncologico Veneto; Memorial Sloan-Kettering Cancer Center; Kreftforeningen; Institut National Du Cancer; Cancer Council Queensland; Oak Foundation; Leids Universitair Medisch Centrum; Canadian Institutes of Health Research; European Commission; Lietuvos Mokslo Taryba; Helse Vest; Kuopion Yliopistollinen Sairaala; Istituto Toscano Tumori; Universitätsklinikum Hamburg-Eppendorf; Roswell Park Cancer Institute; Dr. Ralph and Marian Falk Medical Research Trust; Israel Cancer Association; Ministério da Ciência, Tecnologia e Inovação; General Secretariat for Research and Technology; Deutsche Gesetzliche Unfallversicherung; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Ministero della Salute; University of Southern California; Cancerfonden; Academy of Finland; Kementerian Sains, Teknologi dan Inovasi; Universitair Ziekenhuis Gent; Robert Bosch Stiftung; Singapore Eye Research Institute; Hungarian Scientific Research Fund; Cancer Association of South Africa; American Cancer Society; Cancer Australia; California Breast Cancer Research Program; Univerzita Karlova v Praze; McGill University; Generalitat de Catalunya; King's College London; Imperial College London; Cancer Research UK; WorkSafeBC; Ohio State University; Canadian Breast Cancer Research Alliance; World Health Organization; National Center for Advancing Translational Sciences; Bundesministerium für Bildung und Forschung; Francis Crick Institute; McGill University Health Centre; David F. and Margaret T. Grohne Family Foundation; University of Cambridge; Fred C. and Katherine B. Andersen Foundation; Helsingin ja Uudenmaan Sairaanhoitopiiri; California Department of Public Health; Kræftens Bekæmpelse; Kansas Bioscience Authority; Rutgers Cancer Institute of New Jersey; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Lon V. Smith Foundation; Georgetown University; Cancer Council Tasmania; Itä-Suomen Yliopisto; Fox Chase Cancer Center; KWF Kankerbestrijding; Biomedical Research Council; Clalit Health Services; Deutsches Krebsforschungszentrum; Breast Cancer Research Foundation; Agency for Science, Technology and Research; University of Chicago; NRG Oncology; Wellcome Trust; Fondation du cancer du sein du Québec; Universiteit Gent; National Breast Cancer Foundation; European Social Fund; Medical Research Council; Mayo Foundation for Medical Education and Research; Associazione Italiana per la Ricerca sul Cancro; Ministry of Public Health; Beckman Research Institute, City of Hope; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Jess and Mildred Fisher Center for Familial Cancer Research; Oregon Health and Science University; Umeå Universitet; U.S. Department of Health and Human Services; U.S. Army; Landspítali Háskólasjúkrahús; Ministerio de Economía y Competitividad; Ovarian Cancer Research Fund; Rheinische Friedrich-Wilhelms-Universität Bonn; Breast Cancer Research Trust; National Institute for Health and Care Research; University of California, Irvine; Oulun Yliopisto; Fisher Center for Alzheimer's Research Foundation; Beth Israel Deaconess Medical Center; Susan G. Komen for the Cure; Fonds Wetenschappelijk Onderzoek; Minnesota Ovarian Cancer Alliance; University of Pennsylvania; Sundhed og Sygdom, Det Frie Forskningsråd","keywords":"Allele; Locus (genetics); Ovarian cancer; Genetics; Breast cancer; Biology; Gene; Bioinformatics; Medicine; Cancer","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":[0.0002113261,0.0001345163,0.00009176723,0.0000190241,0.0006053232,0.00002536252,0.0007509168,0.0002711633,0.0001415249],"category_scores_gemma":[0.00007076097,0.00008335216,0.00009997824,0.00007400985,0.0001830569,0.000004148225,0.000633181,0.0002949764,0.00002132488],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001034037,"about_ca_system_score_gemma":0.0001072381,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001201962,"about_ca_topic_score_gemma":0.01635296,"domain_scores_codex":[0.9991068,0.0001604,0.0001730056,0.0002585905,0.0001180658,0.0001831056],"domain_scores_gemma":[0.9977723,0.00008718632,0.0001305046,0.001814038,0.000142359,0.00005365444],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00005072449,0.0001084975,0.01218096,0.000006639867,0.0002168856,2.217619e-7,0.00005069778,0.000152547,0.949595,0.01730165,0.00764338,0.01269282],"study_design_scores_gemma":[0.002951581,0.000211716,0.7431997,0.00007322793,0.0003032707,0.0001242528,0.0004383269,0.001442197,0.02219712,0.02189067,0.2060143,0.001153652],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9585885,0.007359495,0.013271,0.01833617,0.0003865727,0.0003715847,0.0007943164,0.00003819721,0.0008541031],"genre_scores_gemma":[0.9938547,0.002666823,0.001791125,0.0003094227,0.00006517464,0.00005545054,0.000237953,0.00002021512,0.000999138],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9273978,"threshold_uncertainty_score":0.9125335,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01644836270899953,"score_gpt":0.2692355839801886,"score_spread":0.2527872212711891,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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