{"id":"W2008832338","doi":"10.1002/humu.21513","title":"Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants","year":2011,"lang":"en","type":"article","venue":"Human Mutation","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"RNA splicing; splice; Biology; Genetics; Alternative splicing; Splice site mutation; Gene; Intron; Computational biology; Mutation; Gene isoform; Breast cancer; Cancer; RNA","routes":{"ca_aff":true,"ca_fund":false,"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":[0.00005993959,0.00005725894,0.00008696807,0.00003093783,0.0000314794,0.000002357255,0.0000367536,0.00006412097,0.00001053616],"category_scores_gemma":[0.00002096656,0.00005734738,0.00002331089,0.00002347144,0.00003400506,0.000003780291,0.00001860594,0.00001805442,7.167383e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002488756,"about_ca_system_score_gemma":0.000007135498,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004027588,"about_ca_topic_score_gemma":0.000002457295,"domain_scores_codex":[0.9995875,0.00004512143,0.0001340891,0.0001201715,0.00005633504,0.00005677354],"domain_scores_gemma":[0.999693,0.0000101948,0.0001118381,0.0001059788,0.00006022273,0.00001874047],"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":[0.00002620298,0.00002442801,0.0005071958,0.0001254549,0.00002836339,0.000001031866,0.0004320515,0.000002247914,0.9951738,0.0004975711,0.000008683974,0.003173008],"study_design_scores_gemma":[0.0003140107,0.000384833,0.1016539,0.00004191998,0.00002263246,0.00000499351,0.0000563344,0.0000241859,0.8963877,0.001049361,0.00001968164,0.00004047003],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943281,0.000227835,0.004674423,0.000001531946,0.00005461473,0.0001639286,0.000004568692,0.0000043642,0.0005406096],"genre_scores_gemma":[0.9988278,0.00002866483,0.00103137,0.00001240768,0.00003111251,0.000007831873,0.00002333293,0.00000753531,0.00003001166],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1011467,"threshold_uncertainty_score":0.2338558,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02134715960613721,"score_gpt":0.2364495637030702,"score_spread":0.215102404096933,"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."}}