Process / pipelineBioinformatics / omics

Single-cell variant calling — detecting mutations at cellular resolution

Single-cell variant calling is a bioinformatics pipeline that identifies DNA sequence variants — single-nucleotide variants (SNVs), small insertions and deletions, and copy-number alterations — within individual cells rather than across a bulk tissue mixture. By resolving the mutational landscape cell by cell, it reveals intra-tumoral heterogeneity, clonal architecture, and somatic mutation patterns that bulk sequencing obscures. The approach is central to cancer genomics, developmental biology, and any study where cell-to-cell genetic diversity is the primary question.

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Sources

  1. Zafar, H., Wang, Y., Nakhleh, L., Navin, N., & Chen, K. (2016). Monovar: single-nucleotide variant detection in single cells. Nature Methods, 13(6), 505–507. DOI: 10.1038/nmeth.3835
  2. Singer, J., Ruscheweyh, H. J., Doherr, M. G., Stadler, T., & Althaus, C. L. (2021). Single-nucleotide variant calling in single-cell sequencing data with piccolo. BMC Bioinformatics, 22(1), 333. link

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Referenced by

ScholarGateSingle-cell variant calling (Single-Cell Genomic Variant Calling). Retrieved 2026-06-04 from https://scholargate.app/en/bioinformatics/single-cell-variant-calling