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

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

Author information

1
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
2
Department of Epidemiology &Population Health, Albert Einstein College of Medicine, Bronx, New York, USA.
3
Department of Ophthalmology &Visual Sciences, 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.

PMID:
28319112
PMCID:
PMC5408311
DOI:
10.1038/nmeth.4227
[Indexed for MEDLINE]
Free PMC Article

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