{"id":"W3009800781","doi":"10.1002/gepi.22288","title":"Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status","year":2020,"lang":"en","type":"article","venue":"Genetic Epidemiology","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Université Laval; BC Cancer Agency; Centre hospitalier universitaire de Québec; McGill University; University Health Network; University of Toronto; Royal Victoria Hospital; Queen's University; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"Medical Research and Materiel Command; Fogarty International Center; National Institute of General Medical Sciences; NIH Office of the Director; National Human Genome Research Institute; National Institute of Mental Health; National Institute on Aging; Servicio Gallego de Salud; Instituto de Salud Carlos III; Cancer Council Western Australia; Cancer Council NSW; Cancer Council Victoria; World Cancer Research Fund; Medical Research Council; Hellenic Health Foundation; Freistaat Sachsen; Institut Català de la Salut; Centro de Investigación Biomédica en Red de Cáncer; Biomedical Research Council; Federal Agency for Scientific Organizations; Mutuelle Générale de l'Education Nationale; Institut Gustave-Roussy; Ministero dello Sviluppo Economico; Radboud Universitair Medisch Centrum; National Health and Medical Research Council; Ministry of Education, Science and Technology; Academia Sinica; Deutsche Krebshilfe; Cancer Institute NSW; Medizinischen Hochschule Hannover; Cancer Council South Australia; Centre International de Recherche sur le Cancer; Kreftforeningen; Institut National Du Cancer; Oak Foundation; Leids Universitair Medisch Centrum; Karolinska Institutet; Associazione Italiana per la Ricerca sul Cancro; KWF Kankerbestrijding; Vetenskapsrådet; Fondation de France; Stavros Niarchos Foundation; University of Westminster; Ligue Contre le Cancer; Korea Health Industry Development Institute; Hungarian Scientific Research Fund; Ministerio de Economía y Competitividad; Erasmus Medisch Centrum; Japan Agency for Medical Research and Development; Deutsche Gesetzliche Unfallversicherung; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; King's College London; Fondation ARC pour la Recherche sur le Cancer; Gentofte Hospital; California Breast Cancer Research Program; Generalitat de Catalunya; Alexander von Humboldt-Stiftung; Cancerfonden; American Cancer Society; Cancer Australia; Radboud Universiteit; Russian Foundation for Basic Research; Kuopion Yliopistollinen Sairaala; National Medical Research Council; Norges Forskningsråd; Stockholms Läns Landsting; Universiteit Maastricht; Vrije Universiteit Amsterdam; Academy of Finland; Maastricht Universitair Medisch Centrum; National Heart, Lung, and Blood Institute; Ohio State University; Universiteit Leiden; University of Crete; Institut National de la Santé et de la Recherche Médicale; Agency for Science, Technology and Research; Canadian Institutes of Health Research; European Commission; Avon Foundation for Women; Breast Cancer Research Trust; Fondation du cancer du sein du Québec; National Cancer Institute; European Regional Development Fund; Ministerio de Sanidad, Servicios Sociales e Igualdad; University of Cambridge; Nemzeti Kutatási Fejlesztési és Innovációs Hivatal; Virginia Department of Health; Government of Canada; Georgetown University; Breast Cancer Campaign; National Research Foundation; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; National Breast Cancer Foundation; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; National Institute of Environmental Health Sciences; Swedish Cancer Foundation; Lon V. Smith Foundation; Fundación Mutua Madrileña; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Institute of Biomedical Sciences, Academia Sinica; David F. and Margaret T. Grohne Family Foundation; Consejo Nacional de Ciencia y Tecnología; Sundhed og Sygdom, Det Frie Forskningsråd; Deutsches Krebsforschungszentrum; University College London; National Research Foundation of Korea; California Department of Public Health; Genome Canada; Cancer Council Tasmania; Itä-Suomen Yliopisto; Programme Grants for Applied Research; Robert Bosch Stiftung; Center for Agroforestry, University of Missouri; Oulun Yliopisto; Fundación Cellex; Fisher Center for Alzheimer's Research Foundation; Centers for Disease Control and Prevention; National Institute for Health and Care Research; Susan G. Komen for the Cure; Taiwan Biobank; U.S. Department of Health and Human Services; Agence Nationale de la Recherche; U.S. Army; Landspítali Háskólasjúkrahús; National Center for Advancing Translational Sciences; Bundesministerium für Bildung und Forschung; Ministry of Education, Culture, Sports, Science and Technology; Ovarian Cancer Research Fund; National Institutes of Health; Division of Cancer Prevention, National Cancer Institute; Cancer Research UK; Breast Cancer Research Foundation; Rijksuniversiteit Groningen; Deutscher Akademischer Austauschdienst; Yayasan Sime Darby; Xunta de Galicia; Dr. Ralph and Marian Falk Medical Research Trust; Fonds Wetenschappelijk Onderzoek","keywords":"Breast cancer; Genome-wide association study; Estrogen receptor; Transcriptome; Biology; Genetic association; Oncology; Gene; Cancer; Estrogen receptor alpha; Genetics; Computational biology; Medicine; Single-nucleotide polymorphism; Gene expression; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001109481,0.00031581,0.0008502675,0.0000454517,0.0001204738,0.000004693529,0.0003271582,0.0004734692,0.0002174291],"category_scores_gemma":[0.003910331,0.0003071094,0.0002183144,0.0002058166,0.00008914871,0.000003637291,0.0001077273,0.0002723988,0.0000311328],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000820747,"about_ca_system_score_gemma":0.0001353259,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001258178,"about_ca_topic_score_gemma":0.0001454345,"domain_scores_codex":[0.995147,0.001947296,0.001125337,0.0007909383,0.0001615382,0.0008279164],"domain_scores_gemma":[0.9974539,0.00062333,0.0009848182,0.0003892487,0.0002191367,0.0003295905],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001043749,0.0002014411,0.9061932,0.00001093468,0.0004312635,3.407404e-7,0.0002990596,0.001977161,0.03079587,0.000007174417,0.05782498,0.002154226],"study_design_scores_gemma":[0.001689382,0.001400325,0.9671957,0.000004526522,0.0002114557,0.000001730314,0.0006037019,0.000360801,0.0009393828,0.0001174916,0.02713041,0.0003450344],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.984279,0.004064527,0.005198014,0.004568546,0.0003078974,0.0005108585,0.0009790306,0.00002517829,0.00006691703],"genre_scores_gemma":[0.9883284,0.003951584,0.003546624,0.00325457,0.000361405,0.0001376769,0.0002196065,0.00004358046,0.0001565605],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06100257,"threshold_uncertainty_score":0.9999381,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01675303260110503,"score_gpt":0.2821266363232841,"score_spread":0.2653736037221791,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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