{"id":"W2779391062","doi":"10.1002/humu.23390","title":"Thorough in silico and in vitro cDNA analysis of 21 putative<i>BRCA1</i>and<i>BRCA2</i>splice variants and a complex tandem duplication in<i>BRCA2</i>allowing the identification of activated cryptic splice donor sites in<i>BRCA2</i>exon 11","year":2017,"lang":"en","type":"article","venue":"Human Mutation","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newfoundland and Labrador Centre for Applied Health Research; McGill University Health Centre; St. John’s Health Sciences Centre; BC Cancer Agency","funders":"European Commission; Stichting Tegen Kanker; Horizon 2020; Canadian Institutes of Health Research; Instituto de Salud Carlos III; Ministry of Education, Youth and Science","keywords":"Biology; In silico; Exon; RNA splicing; Genetics; splice; Tandem exon duplication; Computational biology; Breakpoint; Intron; Exon skipping; Complementary DNA; Alternative splicing; Gene; RNA; Chromosomal translocation","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":[0.00120916,0.0002245248,0.0004523447,0.0003818314,0.0001681637,0.00006607261,0.0002473983,0.000191878,0.000004975086],"category_scores_gemma":[0.0003145871,0.0002139685,0.00006131073,0.000416575,0.0001904727,0.00008101753,0.0001199958,0.0001308878,4.458474e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004439755,"about_ca_system_score_gemma":0.00003248912,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000915427,"about_ca_topic_score_gemma":0.003069976,"domain_scores_codex":[0.997874,0.0003171574,0.0008001823,0.0005898878,0.0001859922,0.0002327862],"domain_scores_gemma":[0.9985131,0.0001409341,0.0007027748,0.0005037659,0.00009554507,0.00004385063],"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":[0.0001942372,0.0001108588,0.03802833,0.00007253215,0.00008552315,0.000002680667,0.002193731,0.0002726393,0.9561726,0.0001490946,0.000001120153,0.002716689],"study_design_scores_gemma":[0.0008731562,0.00005739633,0.5957898,0.00005136647,0.00009483533,0.000002303648,0.0005780904,0.003149184,0.398478,0.0007674794,0.000008304315,0.0001500934],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980218,0.0005031072,0.0005386713,0.0001753185,0.00001990251,0.0006606464,0.00001674656,0.00000587442,0.00005792152],"genre_scores_gemma":[0.9988764,0.0002659327,0.0004308539,0.0000501062,0.00001948103,0.0001144346,0.0002033314,0.00002053856,0.00001893102],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5577615,"threshold_uncertainty_score":0.8725381,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02590223663310351,"score_gpt":0.2950547951044369,"score_spread":0.2691525584713333,"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."}}