Knouse et al. describe a high-specificity analytical approach for the detection of megabase-scale copy number variants (CNVs) in single somatic cells. Applying their approach to single-cell sequencing data from brain and skin cells, the authors detected CNVs exceeding 5 Mb in 8–9% of somatic cells across tissues. Notably, two recurrent CNVs were identified across individuals. In germline cells, megabase-scale CNVs are present in 1% of individuals and are often associated with disease. By contrast, this study shows that large CNVs are tolerated and relatively prevalent in somatic cells.
References
Knouse, K. A., Wu, J. & Amon, A. Assessment of megabase-scale somatic copy number variation using single cell sequencing. Genome Res. http://dx.doi.org/10.1101/gr.198937.115 (2016)
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Waldron, D. Single-cell CNV detection. Nat Rev Genet 17, 128 (2016). https://doi.org/10.1038/nrg.2016.8
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DOI: https://doi.org/10.1038/nrg.2016.8
