Assessment of megabase-scale somatic copy number variation using single cell sequencing
- ↵* Corresponding author; email: kknouse{at}mit.edu
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 that particular CNVs are relatively prevalent within and across individuals.
- Received August 29, 2015.
- Accepted January 14, 2016.
- Published by Cold Spring Harbor Laboratory Press
This manuscript is Open Access.
This article, published in Genome Research, is available under a Creative Commons License (Attribution 4.0 International license), as described at http://creativecommons.org/licenses/by/4.0/.
