Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications | |
Huang, Lei ; Ma, Fei ; Chapman, Alec ; Lu, Sijia ; Xie, Xiaoliang Sunney | |
刊名 | ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 16 |
2015 | |
关键词 | single-cell genomics cancer genomics WGA DOP-PCR MDA MALBAC CTC PGD PGS in vitro fertilization PREIMPLANTATION GENETIC DIAGNOSIS CIRCULATING TUMOR-CELLS COPY-NUMBER DNA-POLYMERASE HYPERTROPHIC CARDIOMYOPATHY HUMAN RECOMBINATION HAPLOTYPE MAP SPERM CELLS CANCER ANEUPLOIDY |
DOI | 10.1146/annurev-genom-090413-025352 |
英文摘要 | 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.; NCI NIH HHS [5DP1CA186693, 5R33CA174560]; NHGRI NIH HHS [HG005613-01, HG005097-1]; SCI(E); REVIEW; 79-102; 16 |
语种 | 英语 |
内容类型 | 期刊论文 |
源URL | [http://ir.pku.edu.cn/handle/20.500.11897/459283] |
专题 | 生命科学学院 |
推荐引用方式 GB/T 7714 | Huang, Lei,Ma, Fei,Chapman, Alec,et al. Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications[J]. ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 16,2015. |
APA | Huang, Lei,Ma, Fei,Chapman, Alec,Lu, Sijia,&Xie, Xiaoliang Sunney.(2015).Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications.ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 16. |
MLA | Huang, Lei,et al."Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications".ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 16 (2015). |
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