Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell

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Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell

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Title: Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell
Author: Zong, Chenghang; Chapman, Alec Randolph; Xie, Xiaoliang Sunney

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Citation: Zong, Chenghang, Alec R. Chapman, and X. Sunney Xie. 2012. Genome-wide detection of single-nucleotide and copy-number variations of a single human cell. Science 338(6114): 1622-1626.
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Abstract: Kindred cells can have different genomes because of dynamic changes in DNA. Single cell sequencing is needed to characterize these genomic differences but has been hindered by whole-genome amplification bias, resulting in low genome coverage. Here we report a new amplification method: Multiple Annealing and Looping Based Amplification Cycles (MALBAC) that offer high uniformity across the genome. Sequencing MALBAC amplified DNA achieves 93% genome coverage ≥1x for a single human cell at 25x mean sequencing depth. We detected digitized copy number variations (CNVs) of a single cancer cell. By sequencing three kindred cells, we were able to call individual single nucleotide variations (SNVs) with no false positives observed. We directly measured the genome-wide mutation rate of a cancer cell line and found that purine-pyrimidine exchanges occurred unusually frequently among the newly acquired SNVs.
Published Version: doi:10.1126/science.1229164
Other Sources: http://www.ncbi.nlm.nih.gov/pubmed/23258894
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:10386977
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