{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001195909,0.0006574632,0.0007307283,0.0003709718,0.0003837797,0.0006356037,0.0003593723,0.0006538676,0.001338789],"category_scores_gemma":[0.001823029,0.0002906731,0.001004533,0.0005015809,0.0003909093,0.0001972431,0.000259179,0.0008496208,0.0008734538],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000404957,"about_ca_system_score_gemma":0.0007307401,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00112082,"about_ca_topic_score_gemma":0.001853058,"domain_scores_codex":[0.9991453,0.0002740477,0.00006904027,0.0001946851,0.0002400766,0.00007673133],"domain_scores_gemma":[0.9984697,0.0009120454,0.0001657727,0.0001391984,0.0002383235,0.00007496442],"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":[0.0003635719,0.0001743793,0.004368727,0.0003028899,0.00005920144,0.0004651643,0.0001054287,0.009563696,0.976703,0.0002726174,0.0002401363,0.007381133],"study_design_scores_gemma":[0.00002249302,0.0005203954,0.006375599,0.00001372782,0.0001568253,0.0007631236,0.0001069969,0.02980971,0.9583572,0.0003438175,0.003495444,0.00003458475],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9267644,0.001063547,0.06643504,0.0002023189,0.0001131842,0.0001555876,0.003338616,0.000470538,0.001456837],"genre_scores_gemma":[0.8664949,0.001270142,0.1187295,0.0002057985,0.000043881,0.0001357329,0.01088572,0.0002528267,0.001981616],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001338789,"threshold_uncertainty_score":0.006324649,"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."}}