Accurate identification of single-nucleotide variants in whole-genome-amplified single cells.
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.
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Xiao
X
Dong
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Lei
L
Zhang
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Brandon
B
Milholland
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Moonsook
M
Lee
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Alexander Y
AY
Maslov
Department of Epidemiology &Population Health, Albert Einstein College of Medicine, Bronx, New York, USA.
Tao
T
Wang
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.|Department of Ophthalmology &Visual Sciences, Albert Einstein College of Medicine, Bronx, New York, USA.
Jan
J
Vijg
D002478:Cells, Cultured; D015342:DNA Probes; D005347:Fibroblasts / Q000166:cytology; D015723:Gene Library; D014644:Genetic Variation; D015894:Genome, Human; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D008297:Male; D021141:Nucleic Acid Amplification Techniques; D020641:Polymorphism, Single Nucleotide; D061251:Primary Cell Culture; D059010:Single-Cell Analysis
D015342:DNA Probes