{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001649753,0.0002288478,0.0003340546,0.0003999758,0.00009427263,0.00005580246,0.0002549397,0.0002023021,0.0003939956],"category_scores_gemma":[0.0001336672,0.0002133144,0.0001370184,0.001025364,0.0001461224,0.0001029841,0.0001363394,0.0006269088,0.0005216301],"about_ca_system_candidate":true,"about_ca_system_consensus":true,"about_ca_system_score_codex":0.02064659,"about_ca_system_score_gemma":0.01256114,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003353726,"about_ca_topic_score_gemma":0.00008966386,"domain_scores_codex":[0.9979911,0.00005600463,0.0003806506,0.0005213692,0.0004702622,0.0005806288],"domain_scores_gemma":[0.9985579,0.0002463175,0.00004964263,0.0007484745,0.00009189964,0.0003057679],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.01419926,0.004086334,0.06020233,0.01040446,0.0007623135,0.02935312,0.006235286,0.01154901,0.09778798,0.08421958,0.6092532,0.07194717],"study_design_scores_gemma":[0.1509456,0.0004335534,0.2543403,0.003337494,0.0005342953,0.0003905467,0.001760465,0.119742,0.03824565,0.009222032,0.4192154,0.00183269],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9234322,0.002278273,0.0002195186,0.001593731,0.0003257856,0.0007551093,0.00002283497,0.0001397775,0.07123278],"genre_scores_gemma":[0.9731269,0.0002009275,0.000700427,0.0008303473,0.0001894228,0.0001027333,0.0001131252,0.00003748852,0.02469856],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1941379,"threshold_uncertainty_score":0.9930367,"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."}}