Accurate detection of somatic single-nucleotide variants from bulk RNA-seq data using RNA-MosaicHunter.

ABSTRACT: Somatic variants are increasingly recognized as contributors to diverse non-cancer, developmental, and aging-related disorders. However, most tools for detecting somatic single-nucleotide variants (sSNVs) were designed for DNA sequencing and primarily tailored to cancer datasets, leaving a critical gap in harnessing the rich potential of RNA-seq for sSNV identification, particularly in non-cancer tissues with low mutation rates. Here, we introduce RNA-MosaicHunter, a novel bioinformatic tool for accurate sSNV detection from bulk RNA-seq. In two benchmarking datasets, it demonstrated high precision (94.7% in TCGA and 99.3% in a cell-line mixture) with sensitivities of 53.4% and 38.9%, respectively, in the default mode that maximizes precision. We then applied RNA-MosaicHunter to profile 827

SUBMITTER: Huang AY 

PROVIDER: S-EPMC12781890 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature