{"id":"W3100475287","doi":"10.1056/nejmoa1913948","title":"Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women","year":2021,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1154,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; Institute of Genetics; National Cancer Institute; Erasmus Universitair Medisch Centrum Rotterdam; Cancer Council Victoria; Manchester Biomedical Research Centre; Directorate for Biological Sciences; National Institutes of Health; Örebro Universitet; Universidade de Santiago de Compostela; Radboud Universitair Medisch Centrum; Universitair Medisch Centrum Groningen; Karolinska Institutet; King's College London; Lunds Universitet; Universiteit Maastricht; National Institute for Health and Care Research; Centre for Cognitive Ageing and Cognitive Epidemiology; University of Oxford; Universitetssjukhuset Örebro; Radboud Universiteit; QIMR Berghofer Medical Research Institute; Medical Research Council; Leids Universitair Medisch Centrum; Universiteit Leiden; Instituto de Investigación Sanitaria de Santiago de Compostela; Cancer Research UK; Wellcome Trust; Monash University; Maastricht Universitair Medisch Centrum; Rijksuniversiteit Groningen; Brigham and Women's Hospital","keywords":"Breast cancer; Gene; Oncology; Cancer; Genetic association; Association (psychology); Medicine; Genetics; Internal medicine; Biology; Bioinformatics; Genotype; Single-nucleotide polymorphism; Psychology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001589301,0.0002834125,0.0005458681,0.000904405,0.000773473,0.0005612698,0.0003325871,0.000616003,0.001730843],"category_scores_gemma":[0.003086474,0.0005188202,0.0005972249,0.002429083,0.0003726258,0.0003118318,0.0007091553,0.0009110043,0.0005041751],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002409319,"about_ca_system_score_gemma":0.0003691702,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007952303,"about_ca_topic_score_gemma":0.006765693,"domain_scores_codex":[0.9989578,0.0003945223,0.00007838545,0.0003007981,0.0001655219,0.0001029737],"domain_scores_gemma":[0.9988756,0.0004222192,0.0002668353,0.0001808957,0.00008799337,0.0001664126],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002701828,0.00003832273,0.9963804,0.00001318036,0.0001806069,0.0001582468,0.00006143188,0.00008530135,0.0002888846,0.00002171185,0.0003080488,0.002193879],"study_design_scores_gemma":[0.00004038734,0.000115742,0.9977108,0.00000944512,0.0001422108,0.0005333166,0.00007143554,0.000204949,0.00009372392,0.00004978751,0.001023302,0.000004846742],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958332,0.0009674062,0.0004049666,0.00009181957,0.00001031914,0.00002258987,0.002080205,0.00001434643,0.0005751834],"genre_scores_gemma":[0.9950078,0.0005675228,0.0008075946,0.0001162331,0.00002723849,0.00006648438,0.00282629,0.00001436619,0.0005664689],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007952303,"threshold_uncertainty_score":0.01581204,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006549289677128096,"score_gpt":0.274151723491755,"score_spread":0.2676024338146269,"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."}}