{"id":"W2980128108","doi":"10.1038/s41586-019-1650-0","title":"Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma","year":2019,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":173,"is_retracted":false,"has_abstract":false,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; University of British Columbia; SickKids Foundation; BC Cancer Agency; McGill University; McGill University Health Centre; McGill University and Génome Québec Innovation Centre; McMaster University; University of Calgary; Hamilton General Hospital; Ontario Institute for Cancer Research; University of Toronto; Hospital for Sick Children","funders":"National Institute of Neurological Disorders and Stroke; National Cancer Institute","keywords":"Small nuclear RNA; RNA splicing; Biology; snRNP; Sonic hedgehog; Medulloblastoma; Prp24; Genetics; GLI2; Cancer research; Gene; RNA; Non-coding 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":[0.00009032289,0.000121398,0.000116701,0.00005662881,0.00003714534,0.00002163071,0.0001631914,0.000585871,0.00003218502],"category_scores_gemma":[0.00004266439,0.0001209006,0.00006176141,0.000107637,0.00001732952,0.00000305643,0.0000816893,0.0006053942,0.00003993417],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004383827,"about_ca_system_score_gemma":0.00005700189,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006514893,"about_ca_topic_score_gemma":0.0001063946,"domain_scores_codex":[0.9992502,0.00002070074,0.0001559767,0.0002732765,0.00009986963,0.0002000049],"domain_scores_gemma":[0.9995902,0.00001261289,0.00006545868,0.0002370568,0.00004927494,0.00004544014],"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":[0.00005129413,0.00009760325,0.0178026,0.00007327634,0.00005216063,0.0000111456,0.0003934427,0.002659312,0.9723427,0.001581621,0.001010514,0.003924319],"study_design_scores_gemma":[0.01244668,0.003020972,0.3175731,0.001280947,0.0002244411,0.0002964456,0.004980566,0.1223716,0.4083211,0.006785287,0.1180872,0.004611706],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962172,0.000570559,0.00008273093,0.0002199345,0.0003945439,0.0001789,0.00001278581,0.00000828594,0.002315061],"genre_scores_gemma":[0.9976217,0.00006780939,0.001390304,0.0002904772,0.000111178,0.000008613231,0.0001309196,0.00001900876,0.0003600034],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5640216,"threshold_uncertainty_score":0.4930184,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002897012180717422,"score_gpt":0.2349318917817602,"score_spread":0.2320348796010428,"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."}}