{"id":"W2999883126","doi":"10.1038/s41588-019-0537-1","title":"Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes","year":2020,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Bioinformatics and Genomic Networks","field":"Biochemistry, Genetics and Molecular Biology","cited_by":189,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; University Health Network; Université Laval; Centre Hospitalier de l’Université de Montréal; Simon Fraser University; McGill University; Queen's University; Women's College Hospital; Centre hospitalier universitaire de Québec; Royal Victoria Hospital; University of Toronto; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; BC Cancer Agency","funders":"National Center for Advancing Translational Sciences; National Cancer Institute; Biocenter, University of Oulu; Det Sundhedsvidenskabelige Fakultet, Københavns Universitet; BC Cancer Agency; Russian Academy of Sciences; National Medical Research Council; Medical Research Council; Horizon 2020 Framework Programme; University of California, San Francisco; University of North Carolina at Chapel Hill; University of Texas MD Anderson Cancer Center; National Institute of Mental Health; School of Medicine, Vanderbilt University; National Institutes of Health; Centre Léon Bérard; Centro de Investigación Biomédica en Red de Cáncer; National Institute of General Medical Sciences; Deutschen Konsortium für Translationale Krebsforschung; Skånes universitetssjukhus; Universidad de La Sabana; Pomorski Uniwersytet Medyczny W Szczecinie; Institut Gustave-Roussy; Ministero dello Sviluppo Economico; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Uppsala Universitet; Universidade do Porto; Universitetssjukhuset Örebro; Umm Al-Qura University; Biomedical Research Council; Federal Agency for Scientific Organizations; Clalit Health Services; Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill; Hospices Civils de Lyon; Aalborg Universitetshospital; Medizinischen Hochschule Hannover; Kuopion Yliopistollinen Sairaala; Université Paris Descartes; University of Nottingham; Universitetet i Oslo; Oak Foundation; Leids Universitair Medisch Centrum; Simon Fraser University; Peter MacCallum Cancer Centre; Odense Universitetshospital; Servicio Gallego de Salud; Institut Bergonié; Great Ormond Street Hospital for Children; Örebro Universitet; Queen's University; University of California, Irvine; Oulun Yliopisto; Universität Wien; Japan Agency for Medical Research and Development; Curtin University of Technology; Deutsche Gesetzliche Unfallversicherung; King's College London; Imperial College London; Gentofte Hospital; Aalborg Universitet; Cancer Australia; Russian Foundation for Basic Research; National Health and Medical Research Council; Deutsche Krebshilfe; Academia Sinica; Monash University; Institut National de la Santé et de la Recherche Médicale; University of Westminster; Wellcome Trust; Agence Nationale de la Recherche; Medisinske fakultet, Universitetet i Oslo; Hunter Medical Research Institute; Nottingham University Hospitals NHS Trust; National Breast Cancer Foundation; Queen's University Belfast; China Medical University; Itä-Suomen Yliopisto; Eberhard Karls Universität Tübingen; Ohio State University; Universiteit Leiden; University of Chicago; University of Glasgow; Deutsches Krebsforschungszentrum; University of Aberdeen; Canadian Institutes of Health Research; European Commission; Lon V. Smith Foundation; University of Oxford; University of Toronto; Government of Canada; National Institute of Environmental Health Sciences; Universiti Malaya; Swedish Cancer Foundation; Centre Hospitalier Universitaire de Québec; V Foundation for Cancer Research; NRG Oncology; Vanderbilt University; University Hospitals of Leicester NHS Trust; Rigshospitalet; Ministère du Développement Économique, de l’Innovation et de l’Exportation; University College London; Cancer Research UK; Istituto Oncologico Veneto; Institut National Du Cancer; Memorial Sloan-Kettering Cancer Center; Fondation du cancer du sein du Québec; Institute of Biomedical Sciences, Academia Sinica; David F. and Margaret T. Grohne Family Foundation; National Institute for Health and Care Research; Karolinska Institutet; Universitätsklinikum Hamburg-Eppendorf; Vanderbilt-Ingram Cancer Center; Yale University; Harvard T.H. Chan School of Public Health; Helsingin ja Uudenmaan Sairaanhoitopiiri; Breast Cancer Research Foundation; University of Pretoria; University of New South Wales; University of Pittsburgh; Fondazione Italiana per la Ricerca sul Cancro; Royal Marsden NHS Foundation Trust; Université Laval; Helsingin Yliopisto; Mailman School of Public Health, Columbia University; Universität Heidelberg; UK Dementia Research Institute; Taiwan Biobank; Pontificia Universidad Javeriana; University of Wisconsin-Milwaukee; Cancer Research Institute; Medizinische Universität Wien; Canada's Michael Smith Genome Sciences Centre; Klinisk Institut, Aalborg Universitet; Genome Canada; Brigham and Women's Hospital; Instituto de Investigación Sanitaria de Santiago de Compostela; ACT Government; University of Melbourne; Institut Claudius Regaud; California Department of Public Health; U.S. Department of Health and Human Services; Huntsman Cancer Institute; Health Sciences Center, University of New Mexico; Háskóli Íslands; NIHR Oxford Biomedical Research Centre; Landspítali Háskólasjúkrahús; Ministerio de Economía y Competitividad; Ministry of Education, Culture, Sports, Science and Technology; Ovarian Cancer Research Fund; Faculty of Health and Medical Sciences, University of Western Australia; Lunds Universitet; QIMR Berghofer Medical Research Institute; Fundación Cellex","keywords":"Biology; Genetics; Computational biology; Gene; Linkage disequilibrium; Expression quantitative trait loci; Genome-wide association study; Genetic association; Single-nucleotide polymorphism; Allele; Haplotype; 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":[],"consensus_categories":[],"category_scores_codex":[0.00009678746,0.0001943594,0.0002104894,0.00003327002,0.00009093909,0.00002667474,0.0003230176,0.0004580743,0.00003392302],"category_scores_gemma":[0.00002936937,0.0001821823,0.0001418291,0.0001708377,0.00008885401,0.000003502973,0.0001979819,0.0003420506,0.00000617238],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007992892,"about_ca_system_score_gemma":0.0000977648,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001417521,"about_ca_topic_score_gemma":0.00005391136,"domain_scores_codex":[0.9989408,0.00003040491,0.0003329828,0.0002801128,0.0001598884,0.0002558143],"domain_scores_gemma":[0.9991132,0.000009848457,0.0002400307,0.0003350133,0.0001736967,0.0001282319],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003846262,0.0001781533,0.1150764,0.0007168305,0.001387436,0.00001568442,0.002259291,0.02240614,0.4948137,0.0003471598,0.293137,0.06927764],"study_design_scores_gemma":[0.001893237,0.0003801737,0.05866355,0.0001377695,0.0002898307,0.00007076778,0.0005097371,0.01127612,0.2833017,0.001544659,0.6405331,0.001399351],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9127455,0.064725,0.01607105,0.003007042,0.001015036,0.0004173453,0.001197424,0.00003548686,0.00078615],"genre_scores_gemma":[0.9873413,0.005146372,0.005240095,0.0008574855,0.001057491,0.00001003219,0.0001480576,0.00002912618,0.000170076],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3473962,"threshold_uncertainty_score":0.742918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007833456764252785,"score_gpt":0.2314860886901991,"score_spread":0.2236526319259463,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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