scSNViz: Visualization and analysis of Cell-Specific expressed SNVs

Authors

• Siera Martinez, McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, United States.
• Tushar Sharma, McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, United States.
• Luke Johnson, McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, United States.
• Allen Kim, McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, United States.
• Vania Ballesteros Prieto, McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, United States.
• Hovhannes Arestakesyan, McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, United States.
• Sunisha Harish, McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, United States.
• Jewel Dias, McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, United States.
• Joseph Goldfrank, Department of Computer Science, School of Engineering & Applied Science, George Washington University, Washington, DC 20057, United States.
• Nathan Edwards, Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, Washington, DC 20057, United States.
• Anelia Horvath, McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, United States.

Document Type

Journal Article

Publication Date

1-14-2026

Journal

Bioinformatics (Oxford, England)

DOI

10.1093/bioinformatics/btag023

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: 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. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

APA Citation

Martinez, Siera; Sharma, Tushar; Johnson, Luke; Kim, Allen; Ballesteros Prieto, Vania; Arestakesyan, Hovhannes; Harish, Sunisha; Dias, Jewel; Goldfrank, Joseph; Edwards, Nathan; and Horvath, Anelia, "scSNViz: Visualization and analysis of Cell-Specific expressed SNVs" (2026). GW Authored Works. Paper 8572.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/8572

Department

Biochemistry and Molecular Medicine