4.8 Article

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

Journal

NATURE METHODS
Volume 14, Issue 5, Pages 491-+

Publisher

NATURE PORTFOLIO
DOI: 10.1038/NMETH.4227

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Funding

  1. NIH [AG017242, AG047200, AG038072]
  2. Glenn Foundation for Medical Research

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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.

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