{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.008439651,0.0009779003,0.001069005,0.002160699,0.0007777294,0.001669946,0.0008434388,0.0008696321,0.00398531],"category_scores_gemma":[0.02011644,0.0002528394,0.002917293,0.003016595,0.0009439138,0.0007536286,0.001431256,0.00136067,0.0002376969],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003248425,"about_ca_system_score_gemma":0.0005388411,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002513581,"about_ca_topic_score_gemma":0.001923568,"domain_scores_codex":[0.9933237,0.003701291,0.0004867063,0.00160699,0.000570963,0.0003103324],"domain_scores_gemma":[0.9748344,0.019875,0.002497046,0.001819245,0.0004688862,0.000505493],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"systematic_review","study_design_scores_codex":[0.002032121,0.0001396646,0.9432374,0.000222858,0.007602742,0.001230224,0.0003399377,0.006127357,0.006844945,0.001444126,0.001139262,0.02963941],"study_design_scores_gemma":[0.0002844729,0.001146736,0.9075842,0.00008996893,0.00523368,0.001515111,0.0004825356,0.06451567,0.004192702,0.01195313,0.002920446,0.00008128753],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9723737,0.001216813,0.02317663,0.0003343231,0.0001030962,0.00004258475,0.001371394,0.0003057744,0.001075725],"genre_scores_gemma":[0.9954276,0.00009869673,0.003576257,0.00009321863,0.00004626793,0.00002892293,0.0005750591,0.00002458448,0.0001292932],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.008439651,"threshold_uncertainty_score":0.04463363,"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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