Affiliation:
1. Biodynamic Optical Imaging Center (BIOPIC), School of Life Sciences, Peking University, Beijing 100871, China
2. Department of Chemistry and Chemical Biology and
3. Graduate Program in Biophysics, Harvard University, Cambridge, Massachusetts 01238;
4. Yikon Genomics Co. Ltd., Taizhou, Jiangsu 225300, China
Abstract
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.
Subject
Genetics (clinical),Genetics,Molecular Biology
Cited by
321 articles.
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