{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003785733,0.001151803,0.00086713,0.003950657,0.0008578087,0.001274101,0.00125434,0.003963262,0.005014013],"category_scores_gemma":[0.002615145,0.0005320462,0.0006924127,0.002262318,0.001032073,0.001240486,0.0009404437,0.001094398,0.003969705],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000507774,"about_ca_system_score_gemma":0.0004362878,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001175674,"about_ca_topic_score_gemma":0.001594439,"domain_scores_codex":[0.9994534,0.00006566449,0.0001421539,0.0001361305,0.0001195329,0.00008325441],"domain_scores_gemma":[0.9981311,0.000772594,0.000475486,0.0001591714,0.0002619133,0.0001998152],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00006349677,0.00002620806,0.01476049,0.0007700304,0.00006499523,0.9396843,0.0002875326,0.0000998592,0.003170132,0.0002925021,0.01252177,0.02825866],"study_design_scores_gemma":[0.000004286845,0.00001088874,0.00333145,0.0001157141,0.00003154737,0.9899128,0.00006524068,0.00005109141,0.0004873357,0.00009556272,0.005886876,0.000007206133],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.558603,0.3203174,0.01824012,0.0151253,0.004004807,0.0006164885,0.003208798,0.001606207,0.07827782],"genre_scores_gemma":[0.915741,0.05805028,0.005036364,0.006166032,0.003191184,0.0001045796,0.00122231,0.0002510028,0.0102373],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005014013,"threshold_uncertainty_score":0.01677352,"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."}}