{"id":"W4411779851","doi":"10.1038/s41375-025-02667-7","title":"Disease-specific U1 spliceosomal RNA mutations in mature B-cell neoplasms","year":2025,"lang":"en","type":"article","venue":"Leukemia","topic":"Chronic Lymphocytic Leukemia Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Ontario Institute for Cancer Research; Canada's Michael Smith Genome Sciences Centre; Simon Fraser University","funders":"Agencia Estatal de Investigación; European Regional Development Fund; AstraZeneca; Agència de Gestió d'Ajuts Universitaris i de Recerca; Fundación Bancaria Caixa d'Estalvis i Pensions de Barcelona; Eusko Jaurlaritza; Associazione Italiana per la Ricerca sul Cancro; National Cancer Institute; Knut och Alice Wallenbergs Stiftelse; Southern University of Science and Technology; Science for Life Laboratory; National Natural Science Foundation of China; Vetenskapsrådet; Karolinska Institutet; Institució Catalana de Recerca i Estudis Avançats; European Commission; Ministerio de Ciencia e Innovación; Ministerstvo Zdravotnictví Ceské Republiky; Fundación Española de Hematología y Hemoterapia; Generalitat de Catalunya; Radiumhemmets Forskningsfonder; Cancerfonden; European Hematology Association; Amgen; American Association for Cancer Research; Centres de Recerca de Catalunya","keywords":"Biology; RNA; Disease; Genetics; Mutation; Gene; Medicine; Pathology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001994075,0.0001234045,0.000167659,0.0006957965,0.0001588452,0.000222396,0.0000871387,0.0002141614,0.0005035117],"category_scores_gemma":[0.0004857203,0.00007489299,0.0001021094,0.0003483788,0.0002176382,0.0001054699,0.0001329054,0.0001202187,0.0001254443],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001462336,"about_ca_system_score_gemma":0.0001054135,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005981387,"about_ca_topic_score_gemma":0.001422201,"domain_scores_codex":[0.9998738,0.00002532555,0.00001876207,0.00003159002,0.00003348058,0.00001712067],"domain_scores_gemma":[0.9997736,0.00005261201,0.00009048537,0.00001823319,0.00002291945,0.00004230611],"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":[0.001277186,0.00006526556,0.4395798,0.00008448754,0.00008150939,0.003182658,0.0003593806,0.0003699385,0.5260681,0.0002992442,0.0002821013,0.02835033],"study_design_scores_gemma":[0.00005209176,0.0006224435,0.876526,0.00003184937,0.00008541431,0.02450891,0.0002262756,0.001343667,0.09276248,0.000379199,0.003443459,0.00001811962],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999076,0.0004401952,0.0002028135,0.000008039196,0.000001594159,0.000003414971,0.00009125014,0.00000775547,0.0001690356],"genre_scores_gemma":[0.9993755,0.0001159782,0.0003150436,0.00000922257,0.000002634663,0.000002731164,0.0001110244,0.000002508419,0.00006540876],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0006957965,"threshold_uncertainty_score":0.001684427,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01469504721946702,"score_gpt":0.2821158762193912,"score_spread":0.2674208289999242,"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."}}