Accurate identification of single-nucleotide variants in whole-genome-amplified single cells.
basic_science · Level V
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- Record sourced from PubMed, PMID 28319112.
- Also identified by DOI 10.1038/nmeth.4227 and PMC identifier 5408311.
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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.
Medical subject headings
- Genome, Human
- Genome-Wide Association Study
- Nucleic Acid Amplification Techniques
- Polymorphism, Single Nucleotide
- Single-Cell Analysis