{"id":"W4223926020","doi":"10.3390/genes13040697","title":"Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; McGill Genome Centre; Centre Hospitalier de l’Université de Montréal; McGill University; Université de Montréal; McGill University Health Centre","funders":"Canadian Institutes of Health Research","keywords":"Exome sequencing; Biology; Genetics; Loss of heterozygosity; Exome; Ovarian cancer; Allele; Gene; Germline; Genetic testing; Cancer; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001223225,0.0003296565,0.0005996625,0.0001837433,0.0002946699,0.00003341122,0.0003477454,0.0001600058,0.0001495495],"category_scores_gemma":[0.0006502689,0.0003485369,0.0002732238,0.0005496971,0.0001817639,0.00001896524,0.0004215722,0.0002279486,0.000001170591],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00033721,"about_ca_system_score_gemma":0.001727477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001109315,"about_ca_topic_score_gemma":0.002123469,"domain_scores_codex":[0.996844,0.000486079,0.00100439,0.0009264741,0.0002549053,0.0004841761],"domain_scores_gemma":[0.9982071,0.0001840921,0.0005232134,0.0006690935,0.0002782002,0.0001383237],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004797393,0.000150353,0.003509802,0.0008440249,0.0009530565,0.001755058,0.001392305,0.004927132,0.9551376,0.00003684107,0.001823775,0.02899032],"study_design_scores_gemma":[0.05853143,0.01946255,0.0919401,0.005318824,0.01652136,0.1129142,0.03933436,0.01710013,0.4416965,0.00658793,0.174937,0.01565568],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8971183,0.09731738,0.001333007,0.0003586426,0.0005046539,0.001148482,0.002185084,0.00001374912,0.00002065036],"genre_scores_gemma":[0.9834847,0.01087969,0.003069792,0.0007418972,0.0002544989,0.001132966,0.0002292805,0.00006452953,0.0001426885],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5134411,"threshold_uncertainty_score":0.9998966,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05386603790100667,"score_gpt":0.3694820939647517,"score_spread":0.315616056063745,"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."}}