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全基因组扩增单细胞中单核苷酸变异的准确识别。

Accurate identification of single-nucleotide variants in whole-genome-amplified single cells.

作者信息

Dong Xiao, Zhang Lei, Milholland Brandon, Lee Moonsook, Maslov Alexander Y, Wang Tao, Vijg Jan

机构信息

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.

Department of Epidemiology &Population Health, Albert Einstein College of Medicine, Bronx, New York, USA.

出版信息

Nat Methods. 2017 May;14(5):491-493. doi: 10.1038/nmeth.4227. Epub 2017 Mar 20.

DOI:10.1038/nmeth.4227
PMID:28319112
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5408311/
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.

摘要

单细胞基因组中的突变分析容易出现与细胞裂解和全基因组扩增相关的假象。在这里，我们通过开发单细胞多重置换扩增（SCMDA）和通用单细胞变异检测工具SCcaller（https://github.com/biosinodx/SCcaller/）来解决这些问题。通过将SCMDA扩增的单细胞与来自同一群体的未扩增克隆进行比较，我们验证了该程序是单细胞基因组学中标准化体细胞突变分析的坚实基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2364/5408311/835ee31280f8/nihms855609f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2364/5408311/64b50e72af75/nihms855609f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2364/5408311/d5044e047778/nihms855609f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2364/5408311/835ee31280f8/nihms855609f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2364/5408311/64b50e72af75/nihms855609f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2364/5408311/d5044e047778/nihms855609f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2364/5408311/835ee31280f8/nihms855609f3.jpg

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