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Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications



Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications



Annual Review of Genomics and Human Genetics 16: 79-102



We present a survey of single-cell whole-genome amplification (WGA) methods, including degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), multiple displacement amplification (MDA), and multiple annealing and looping-based amplification cycles (MALBAC). The key parameters to characterize the performance of these methods are defined, including genome coverage, uniformity, reproducibility, unmappable rates, chimera rates, allele dropout rates, false positive rates for calling single-nucleotide variations, and ability to call copy-number variations. Using these parameters, we compare five commercial WGA kits by performing deep sequencing of multiple single cells. We also discuss several major applications of single-cell genomics, including studies of whole-genome de novo mutation rates, the early evolution of cancer genomes, circulating tumor cells (CTCs), meiotic recombination of germ cells, preimplantation genetic diagnosis (PGD), and preimplantation genomic screening (PGS) for in vitro-fertilized embryos.

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Accession: 058859874

Download citation: RISBibTeXText

PMID: 26077818

DOI: 10.1146/annurev-genom-090413-025352


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