{"id":"W2158740417","doi":"10.1371/journal.pgen.1003212","title":"Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk","year":2013,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":391,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital; University of Toronto; St. Michael's Hospital; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; McGill University; McGill University and Génome Québec Innovation Centre; Université Laval; Centre hospitalier universitaire de Québec","funders":"National Institute of Environmental Health Sciences; Norway Grants; Medical Research Council; lékařská fakulta Univerzity Karlovy; National Institutes of Health; National Center for Research Resources; Institut Català de la Salut; Ministero dello Sviluppo Economico; Istituto Oncologico Veneto; Clalit Health Services; Sahlgrenska Universitetssjukhuset; National Cancer Institute; Landspítali Háskólasjúkrahús; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Israel Cancer Association; Hungarian Scientific Research Fund; National Health and Medical Research Council; Ministério da Ciência, Tecnologia e Inovação; Jewish General Hospital; Andrew Sabin Family Foundation; Lunds Universitet; University of California, San Francisco; Ministero della Salute; Canadian Institutes of Health Research; University of California, Los Angeles; Cancerfonden; Cancer Australia; European Regional Development Fund; National Breast Cancer Foundation; Russian Foundation for Basic Research; Cancer Research UK; Breast Cancer Research Foundation; Generalitat de Catalunya; National Institute for Health and Care Research; University of Chicago; McGill University; Univerzita Karlova v Praze; Canadian Breast Cancer Research Alliance; Uppsala Universitet; Memorial Sloan-Kettering Cancer Center; Instituto de Salud Carlos III; Ohio State University; Mayo Clinic","keywords":"Biology; Ovarian cancer; Genome-wide association study; Genetics; Breast cancer; Mutation; Genetic association; Single-nucleotide polymorphism; Cancer; Gene; 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":[0.0002252417,0.0001893165,0.0001784162,0.00008411861,0.0001186449,0.0001013765,0.0001307819,0.0001740837,0.00004000797],"category_scores_gemma":[0.0002573347,0.0001912526,0.00002751652,0.00023293,0.00005715776,0.00001310031,0.00007298739,0.0001451795,0.000005362663],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003680664,"about_ca_system_score_gemma":0.0001950258,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004347496,"about_ca_topic_score_gemma":0.006250216,"domain_scores_codex":[0.9986132,0.0001165658,0.0002777226,0.0004226957,0.0002833504,0.0002864746],"domain_scores_gemma":[0.9989892,0.00005289592,0.0002656207,0.0002481043,0.0003681627,0.0000760049],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002139079,0.0002158193,0.9433788,0.000009490623,0.0004616645,0.000001714397,0.001216352,0.003340175,0.05072914,4.325251e-7,0.0002020963,0.0004229177],"study_design_scores_gemma":[0.001660209,0.0001809661,0.9802197,0.00001451076,0.0001620567,0.000002137344,0.001225119,0.000973776,0.01516612,0.00004762278,0.00007931539,0.0002684631],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978815,0.0005377461,0.0002281202,0.0002500025,0.00008574326,0.0007682383,0.0001536091,0.00001622327,0.00007883153],"genre_scores_gemma":[0.998529,0.0001700914,0.0002682005,0.000132356,0.0001008852,0.0002863128,0.0001607135,0.00004277734,0.0003096831],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0368409,"threshold_uncertainty_score":0.7799054,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009670870435370151,"score_gpt":0.2363026224527638,"score_spread":0.2266317520173937,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}