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Updated: Mar 6, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Accurate identification of single-nucleotide variants in whole-genome-amplified single cells
Xiao Dong1, Lei Zhang1, Brandon Milholland1
1Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
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.

