{"id":"W1972240813","doi":"10.1038/ng.3284","title":"Germline RECQL mutations are associated with breast cancer susceptibility","year":2015,"lang":"en","type":"article","venue":"Nature Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":189,"is_retracted":false,"has_abstract":false,"ca_institutions":"Women's College Hospital; University of Toronto; McGill University Health Centre; Centre hospitalier universitaire de Québec; McGill University; Jewish General Hospital; McGill University and Génome Québec Innovation Centre","funders":"Canadian Institutes of Health Research","keywords":"Breast cancer; Biology; Gene; Exome sequencing; Genetics; Cancer; Germline; Exome; Germline mutation; Population; Mutation; DNA sequencing; Oncology; Internal medicine; Medicine","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":[0.0002816179,0.0004311586,0.0003321281,0.001771046,0.0002767462,0.0005370734,0.0004754646,0.000868561,0.003976893],"category_scores_gemma":[0.002318044,0.0002951642,0.0003143307,0.001282514,0.0003462878,0.0002348799,0.0002724633,0.000513505,0.0004398088],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001888844,"about_ca_system_score_gemma":0.0001404449,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001238852,"about_ca_topic_score_gemma":0.000787765,"domain_scores_codex":[0.9996322,0.00008971683,0.00003790161,0.00008694965,0.00010176,0.00005142466],"domain_scores_gemma":[0.9984584,0.0004625111,0.0007005759,0.00009785806,0.0001142509,0.0001663593],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001709945,0.0001394028,0.8907852,0.00009687785,0.0003481775,0.01403257,0.0002360684,0.0005126388,0.07485449,0.0006172863,0.000847645,0.01581982],"study_design_scores_gemma":[0.00004879244,0.0001687946,0.9497939,0.00002778657,0.0002242189,0.03671313,0.0001875428,0.0008737551,0.009350186,0.0006187517,0.00196691,0.00002632361],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952738,0.001621495,0.0004343902,0.0003119726,0.00003163816,0.000005647461,0.000333246,0.00005729024,0.001930539],"genre_scores_gemma":[0.9988114,0.0002700635,0.0002286018,0.00003591433,0.0000300348,0.000002006358,0.0001027864,0.00001086436,0.0005084533],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003976893,"threshold_uncertainty_score":0.013304,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0141824451090253,"score_gpt":0.2942865319465853,"score_spread":0.28010408683756,"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."}}