Mitochondrial variant enrichment from high-throughput single-cell RNA sequencing resolves clonal populations

Item Type:	Article
Title:	Mitochondrial variant enrichment from high-throughput single-cell RNA sequencing resolves clonal populations
Creators Name:	Miller, T.E. and Lareau, C.A. and Verga, J.A. and DePasquale, E.A.K. and Liu, V. and Ssozi, D. and Sandor, K. and Yin, Y. and Ludwig, L.S. and El Farran, C.A. and Morgan, D.M. and Satpathy, A.T. and Griffin, G.K. and Lane, A.A. and Love, J.C. and Bernstein, B.E. and Sankaran, V.G. and van Galen, P.
Abstract:	The combination of single-cell transcriptomics with mitochondrial DNA variant detection can be used to establish lineage relationships in primary human cells, but current methods are not scalable to interrogate complex tissues. Here, we combine common 3' single-cell RNA-sequencing protocols with mitochondrial transcriptome enrichment to increase coverage by more than 50-fold, enabling high-confidence mutation detection. The method successfully identifies skewed immune-cell expansions in primary human clonal hematopoiesis.
Keywords:	High-Throughput Nucleotide Sequencing, Mitochondria, Mitochondrial DNA, Mutation, RNA Sequence Analysis, Single-Cell Analysis
Source:	Nature Biotechnology
ISSN:	1087-0156
Publisher:	Nature Publishing Group
Volume:	40
Number:	7
Page Range:	1030-1034
Date:	24 February 2022
Additional Information:	Copyright © 2022. The Author(s), under exclusive licence to Springer Nature America, Inc.
Official Publication:	https://doi.org/10.1038/s41587-022-01210-8
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