Assessment of megabase-scale somatic copy number variation using single-cell sequencing
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Knouse-2016-Assessment of megaba.pdf
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Author(s)
Knouse, Kristin Ann
Wu, Jie
Amon, Angelika B.
Date Issued
January 2016
Journal
Genome Research
Publisher
Cold Spring Harbor Laboratory Press
Citation
Knouse, Kristin A.; Wu, Jie and Amon, Angelika “Assessment of Megabase-Scale Somatic Copy Number Variation Using Single-Cell Sequencing.” Genome Res. 26, no. 3 (January 15, 2016): 376–384. © 2016 Authors.
Version
Final published version
Abstract
Megabase-scale copy number variants (CNVs) can have profound phenotypic consequences. Germline CNVs of this magnitude are associated with disease and experience negative selection. However, it is unknown whether organismal function requires that every cell maintain a balanced genome. It is possible that large somatic CNVs are tolerated or even positively selected. Single-cell sequencing is a useful tool for assessing somatic genomic heterogeneity, but its performance in CNV detection has not been rigorously tested. Here, we develop an approach that allows for reliable detection of megabase-scale CNVs in single somatic cells. We discover large CNVs in 8%–9% of cells across tissues and identify two recurrent CNVs. We conclude that large CNVs can be tolerated in subpopulations of cells, and particular CNVs are relatively prevalent within and across individuals.
MIT Department
Institute for Medical Engineering and Science
Massachusetts Institute of Technology. Department of Biology
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Article is made available in accordance with the publisher's policy and may be subject to US copyright law. Please refer to the publisher's site for terms of use.
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DOI of Published Version
https://doi.org/10.1101/gr.198937.115
