{"id":"W2949776467","doi":"10.1002/humu.22972","title":"Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known <i>BRCA</i> Mutations","year":2016,"lang":"en","type":"article","venue":"Human Mutation","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"Cytodiagnostics (Canada); Western University","funders":"Natural Sciences and Engineering Research Council of Canada; London Health Sciences Centre","keywords":"Biology; Genetics; MSH2; Frameshift mutation; Gene; MSH6; RNA splicing; CHEK2; Germline mutation; Computational biology; Exon; Mutation; DNA mismatch repair; RNA; DNA repair","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":[],"consensus_categories":[],"category_scores_codex":[0.0001384818,0.00009880418,0.00009720093,0.00007387728,0.00007499228,0.00002008191,0.00005903208,0.00007928543,0.0000223991],"category_scores_gemma":[0.00002181196,0.00008795393,0.00001573582,0.00006143378,0.00003085592,0.00001677049,0.00003289168,0.000032303,0.000003455828],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002962276,"about_ca_system_score_gemma":0.00002682289,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002348939,"about_ca_topic_score_gemma":0.0009437592,"domain_scores_codex":[0.9992285,0.00008557792,0.0001960637,0.0002483249,0.00008347719,0.0001580979],"domain_scores_gemma":[0.9997342,0.00001594708,0.00006595433,0.0001043487,0.00004593544,0.00003367282],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00004348678,0.0000514274,0.06305075,0.00002025157,0.00001292211,0.000009358025,0.0002162627,0.00001220929,0.8632514,0.0002777162,0.0000168098,0.07303739],"study_design_scores_gemma":[0.002345718,0.0001309311,0.9695326,0.0002097944,0.00001164298,0.00001394007,0.00007881885,0.00004457681,0.02515468,0.001924105,0.0003047065,0.0002485034],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984795,0.0002323419,0.000650899,0.0001156414,0.000089427,0.0002179407,0.0000524933,0.000007135244,0.0001546053],"genre_scores_gemma":[0.9991298,0.00003776723,0.0004586495,0.00005770902,0.0001113818,0.00005035426,0.00008738744,0.00001596015,0.00005097347],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9064818,"threshold_uncertainty_score":0.3586657,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01609405666085837,"score_gpt":0.2532741658164493,"score_spread":0.2371801091555909,"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."}}