September 25, 2025Open Access

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

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Computational tool identifies mutant cell states in myeloid neoplasms, suggesting enhanced detection techniques.

SpliceUp achieved over a 7-fold increase in detecting SF3B1-mutant cells using low-coverage sequencing data.
Differential expression analysis identified cell type-specific programs in SF3B1-mutated hematopoietic stem cells and erythroid precursors.
The tool utilizes cryptic 3' splice site usage and exon-skipping events to predict mutations in individual cells.
Findings imply the potential for improved identification of mutant cells in heterogeneous disorders.

Kholmatov et al. (2025) studied this question.

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September 25, 2025Open Access

View Full Paper

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Authors

Computational tool identifies mutant cell states in myeloid neoplasms, suggesting enhanced detection techniques.

SpliceUp achieved over a 7-fold increase in detecting SF3B1-mutant cells using low-coverage sequencing data.
Differential expression analysis identified cell type-specific programs in SF3B1-mutated hematopoietic stem cells and erythroid precursors.
The tool utilizes cryptic 3' splice site usage and exon-skipping events to predict mutations in individual cells.
Findings imply the potential for improved identification of mutant cells in heterogeneous disorders.

Kholmatov et al. (2025) studied this question.

View Full Paper

Ask AI

Bookmark