{"id":"W1974173647","doi":"10.1002/humu.21181","title":"Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance","year":2009,"lang":"en","type":"article","venue":"Human Mutation","topic":"Viral gastroenteritis research and epidemiology","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Medical Research Council; National Cancer Institute; National Institutes of Health; National Breast Cancer Foundation; Ludwig Institute for Cancer Research; Canadian Institutes of Health Research; Cancer Institute NSW; Cancer Research Institute; Cancer Council NSW; National Health and Medical Research Council; Mayo Clinic","keywords":"Biology; Genetics; RNA splicing; Pathogenicity; In vitro; Alternative splicing; Molecular biology; Computational biology; Exon; Gene; Microbiology; RNA","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00378485,0.0001728229,0.0008129872,0.0002626373,0.0001251108,0.00002167396,0.0001805647,0.0001255688,0.000008857676],"category_scores_gemma":[0.005307816,0.0001314773,0.0002525611,0.0004247936,0.0003124891,0.0002082824,0.00005252532,0.0002706703,7.739305e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007189348,"about_ca_system_score_gemma":0.00009051977,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003898619,"about_ca_topic_score_gemma":0.0004522933,"domain_scores_codex":[0.9968211,0.0005172939,0.001385999,0.0005195666,0.000335882,0.0004201373],"domain_scores_gemma":[0.9974778,0.001249845,0.0005297651,0.0003641354,0.0002450806,0.000133338],"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":[0.01149363,0.0004329157,0.0812771,0.0005210896,0.0004319569,0.00005906111,0.00110709,0.001011489,0.836121,0.0003061963,0.0001717349,0.06706672],"study_design_scores_gemma":[0.003018299,0.002328262,0.9432624,0.0005074288,0.0004328806,0.00001532128,0.0002490139,0.04425256,0.005098576,0.0007096296,0.0000111945,0.0001144129],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9789282,0.0006218211,0.01813176,0.001231832,0.00003438343,0.0009469301,0.00005969763,0.0000154696,0.00002987546],"genre_scores_gemma":[0.9963732,0.0002716661,0.002825683,0.00023851,0.0001226775,0.00004482585,0.00007838205,0.00001153965,0.00003355739],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8619853,"threshold_uncertainty_score":0.6354336,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1057771794313831,"score_gpt":0.426956362089031,"score_spread":0.3211791826576479,"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."}}