{"id":"W4285020808","doi":"10.3390/cancers14143363","title":"Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry","year":2022,"lang":"en","type":"article","venue":"Cancers","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lakehead University; Sinai Health System; Lunenfeld-Tanenbaum Research Institute; Public Health Ontario; University Health Network; University of Toronto; Wilfrid Laurier University; Université Laval","funders":"National Institute of General Medical Sciences; National Human Genome Research Institute; Canadian Institutes of Health Research; Fondation du cancer du sein du Québec; Genome Canada","keywords":"CHEK2; PALB2; Breast cancer; Exome sequencing; Biology; Genetics; Exome; Gene; Candidate gene; Cancer; Mutation; Germline mutation","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":[0.0008507655,0.0002976552,0.0003538631,0.0008137247,0.0003672461,0.0004509481,0.0002321669,0.0004420754,0.001043946],"category_scores_gemma":[0.002679098,0.0002511528,0.0004329081,0.0007291342,0.0003150933,0.0001271458,0.0003479918,0.0001926701,0.0001358805],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001815877,"about_ca_system_score_gemma":0.000190634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002279774,"about_ca_topic_score_gemma":0.003618381,"domain_scores_codex":[0.9994925,0.000153679,0.00005058668,0.0001706915,0.00007253931,0.00005994069],"domain_scores_gemma":[0.9995195,0.0002609274,0.00007338775,0.00008197105,0.00003158521,0.0000326384],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001546872,0.0001103606,0.7734643,0.0001331269,0.000554627,0.003358063,0.0007791258,0.001079045,0.1978837,0.0003466393,0.0003695402,0.02037467],"study_design_scores_gemma":[0.00005521247,0.0001487784,0.9900048,0.00001203679,0.0002028173,0.002179474,0.000125081,0.001102451,0.005177115,0.0001988974,0.0007839244,0.000009402554],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989533,0.0001680231,0.0005333955,0.00002022691,0.000001762115,0.000008666711,0.000159078,0.000005654567,0.0001498385],"genre_scores_gemma":[0.998412,0.0001451022,0.0008136759,0.00003591161,0.000004744785,0.00001603443,0.0003645864,0.000005569288,0.0002023216],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002279774,"threshold_uncertainty_score":0.004532993,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01164833240054614,"score_gpt":0.2556223584874698,"score_spread":0.2439740260869237,"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."}}