Accurate identification of single-nucleotide variants in whole-genome-amplified single cells

Nat Methods. 2017 May;14(5):491-493. doi: 10.1038/nmeth.4227. Epub 2017 Mar 20.

Abstract

Mutation analysis in single-cell genomes is prone to artifacts associated with cell lysis and whole-genome amplification. Here we addressed these issues by developing single-cell multiple displacement amplification (SCMDA) and a general-purpose single-cell-variant caller, SCcaller (https://github.com/biosinodx/SCcaller/). By comparing SCMDA-amplified single cells with unamplified clones from the same population, we validated the procedure as a firm foundation for standardized somatic-mutation analysis in single-cell genomics.

MeSH terms

  • Cells, Cultured
  • DNA Probes
  • Fibroblasts / cytology
  • Gene Library
  • Genetic Variation
  • Genome, Human*
  • Genome-Wide Association Study / methods*
  • Humans
  • Male
  • Nucleic Acid Amplification Techniques*
  • Polymorphism, Single Nucleotide*
  • Primary Cell Culture
  • Single-Cell Analysis*

Substances

  • DNA Probes