{"id":"W4318067851","doi":"10.1186/s13073-022-01152-5","title":"Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry","year":2023,"lang":"en","type":"review","venue":"Genome Medicine","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Centre hospitalier universitaire de Québec; University of British Columbia; Queen's University; Canadian Centre for Applied Research in Cancer Control; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"Servicio Gallego de Salud; Instituto de Salud Carlos III; European Research Council; World Cancer Research Fund; Medical Research Council; Center for Agroforestry, University of Missouri; Manchester Biomedical Research Centre; Division of Cancer Prevention, National Cancer Institute; National Institutes of Health; Hellenic Health Foundation; National University Health System; Dr. Ralph and Marian Falk Medical Research Trust; Xunta de Galicia; Mutuelle Générale de l'Education Nationale; Institut Gustave-Roussy; National Institute for Health and Care Research; University of Queensland; Centers for Disease Control and Prevention; Memorial Sloan-Kettering Cancer Center; Centre International de Recherche sur le Cancer; Kreftforeningen; Institut National Du Cancer; National Health and Medical Research Council; Ministry of Education, Science and Technology; Academia Sinica; Deutsche Krebshilfe; Cancer Institute NSW; Medizinischen Hochschule Hannover; Instituto Mexicano del Seguro Social; KWF Kankerbestrijding; Karolinska Institutet; Associazione Italiana per la Ricerca sul Cancro; Yayasan Sime Darby; Ministry of Public Health; Syöpäsäätiö; Vetenskapsrådet; National Medical Research Council; Norges Forskningsråd; Stockholms Läns Landsting; University of Westminster; Ligue Contre le Cancer; California Department of Public Health; National Research Foundation of Korea; Korea Health Industry Development Institute; Japan Agency for Medical Research and Development; Deutsche Gesetzliche Unfallversicherung; Gentofte Hospital; University of Southern California; Alexander von Humboldt-Stiftung; Cancerfonden; American Cancer Society; Russian Foundation for Basic Research; Kuopion Yliopistollinen Sairaala; University of Canberra; University of Crete; Institut National de la Santé et de la Recherche Médicale; Wellcome Trust; Agence Nationale de la Recherche; Australian National University; Canadian Institutes of Health Research; European Commission; University College London; Engineering and Physical Sciences Research Council; Stavros Niarchos Foundation; Fondation de France; National Research Foundation; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Breast Cancer Campaign; NSW Health Pathology; Freistaat Sachsen; National Center for Chronic Disease Prevention and Health Promotion; University of Technology Sydney; Western Sydney Local Health District; National Cancer Institute; European Regional Development Fund; Ministerio de Sanidad, Servicios Sociales e Igualdad; University of Cambridge; Government of Canada; 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; University of California; Institute of Biomedical Sciences, Academia Sinica; David F. and Margaret T. Grohne Family Foundation; Lon V. Smith Foundation; Itä-Suomen Yliopisto; Genome Canada; Consejo Nacional de Ciencia y Tecnología; Sundhed og Sygdom, Det Frie Forskningsråd; Hunter Medical Research Institute; Deutsches Krebsforschungszentrum; Avon Foundation for Women; Oak Foundation; Breast Cancer Research Trust; Fondation du cancer du sein du Québec; Programme Grants for Applied Research; Robert Bosch Stiftung; Fogarty International Center; National University of Singapore; Cancer Research UK; World Health Organization; National Research Foundation Singapore; Breast Cancer Research Foundation; University of Sydney; University of California, San Francisco; U.S. Department of Health and Human Services; Ministerio de Economía y Competitividad; Bundesministerium für Bildung und Forschung; Ministry of Education, Culture, Sports, Science and Technology; Ovarian Cancer Research Fund; Taiwan Biobank; Instituto de Seguriidad y Servicios Sociales de los Trabadores del Estado; Fonds Wetenschappelijk Onderzoek","keywords":"Human genetics; Breast cancer; Computational biology; Genome Biology; Gene; Medicine; Biology; Cancer; Bioinformatics; Genetics; Oncology; Evolutionary biology; Genomics; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003622598,0.0003607349,0.001000997,0.0002362816,0.0001249828,0.0000125924,0.0002437952,0.0003873369,0.00006510675],"category_scores_gemma":[0.000150888,0.000254054,0.00009701559,0.0007812676,0.0001008331,0.00000595679,0.00008070498,0.0002557727,0.00002923409],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002038021,"about_ca_system_score_gemma":0.0006703782,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001372721,"about_ca_topic_score_gemma":0.006089918,"domain_scores_codex":[0.9980295,0.0001565636,0.0006108588,0.0005737044,0.000230856,0.0003985293],"domain_scores_gemma":[0.9985923,0.00005258783,0.00065255,0.0004066322,0.0001476756,0.0001482332],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.00007804141,0.0002277355,0.2305069,0.003283835,0.002512031,0.0001117166,0.0005401825,0.004504671,0.000386852,0.00009776009,0.01210108,0.7456492],"study_design_scores_gemma":[0.001897779,0.0004344782,0.7090764,0.004743446,0.001937035,0.0001650837,0.0001846589,0.00001596214,0.000001498332,0.0001458784,0.2804369,0.0009608809],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.003396442,0.9931631,0.0005521033,0.0007811866,0.0002981489,0.0008397104,0.00080594,0.00003459803,0.0001287813],"genre_scores_gemma":[0.001243828,0.9892496,0.0006660291,0.0000968844,0.001251178,0.0001834305,0.004741476,0.000074453,0.002493069],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.7446883,"threshold_uncertainty_score":0.9999912,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1005274028005872,"score_gpt":0.3910408363460263,"score_spread":0.2905134335454391,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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