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

Nucleic acids research - 5 Jan 2026

Huang August Yue, Cheng Yuchen, Ku Jayoung, Zhao Boxun, Park Junseok, Kim Dachan, Choi Jaejoon, Lee Eunjung Alice

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41505106
DOI: 10.1093/nar/gkaf1450
PMCID: PMC12781890

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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