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

X Dong, L Zhang, B Milholland, M Lee, AY Maslov… - Nature …, 2017 - nature.com
X Dong, L Zhang, B Milholland, M Lee, AY Maslov, T Wang, J Vijg
Nature methods, 2017nature.com
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.
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.
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