scSNViz: visualization and analysis of cell-specific expressed SNVs

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Authors: Siera Martinez, Tushar Sharma, Luke Johnson, Allen Kim, Vania Ballesteros Prieto, Hovhannes Arestakesyan, Sunisha Harish, Jewel Dias, Joseph Goldfrank, Nathan Edwards, Anélia Horvath
Cited by: 0
References: 23

Abstract

MOTIVATION: Accurately characterizing expressed genetic variation at the single-cell level is essential for understanding transcriptional heterogeneity, allelic regulation, and mutational dynamics within complex tissues. However, few tools enable comprehensive visualization and quantitative analysis of expressed variants across individual cells. RESULTS: scSNViz is an R package for the exploration, quantification, and visualization of expressed single-nucleotide variants (SNVs) from cell-barcoded single-cell RNA sequencing (scRNA-seq) data. The software supports estimation of variant allele fractions, clustering of SNV expression profiles, and 2D and 3D visualization of individual SNVs or user-defined SNV groups. Beyond visualization, scSNViz facilitates investigation of cell-, cluster-, or lineage-specific variant expression patterns, as well as allelic dynamics including imprinting, random allele inactivation, and transcriptional bursting. It interoperates seamlessly with established single-cell frameworks-Seurat for clustering, Slingshot for trajectory inference, scType for cell-type annotation, and CopyKat for copy-number profiling-enabling integrative multi-omic analyses of expressed variation. AVAILABILITY AND IMPLEMENTATION: scSNViz is implemented in R and freely available at https://github.com/HorvathLab/scSNViz (DOI: 10.5281/zenodo.17307516). The package includes comprehensive documentation and example workflows designed for users with limited bioinformatics experience.

Fields of Study & Subjects

Single-cell and spatial transcriptomics Genomics and Phylogenetic Studies RNA Research and Splicing

Publication details

Journal / source
Bioinformatics
Volume
42
Issue
2
Publication date
3 January 2026
Language
EN