Article

SpliceUp: Predicting <i>SF3B1</i> mutations in individual cells via aberrant splice site activation from scRNA-seq data

2025-09-24

Abstract excerpt

Myeloid neoplasms (MN) are clonal heterogeneous disorders initiated by somatic driver mutations in hematopoietic stem and progenitor cells (HSPCs). Among the most common are mutations in RNA splicing factors, which exert pleiotropic effects but are difficult to study due to altered hematopoietic differentiation and the inability to specifically isolate mutant HSPCs. Single-cell transcriptomics offers a powerful fr...

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Literature Corpus work: 844e7e1e-0d95-5027-a5e3-3f3d9212b9e0
DOI: 10.1101/2025.09.22.677806

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