Mitochondrial variant enrichment from high-throughput single-cell RNA sequencing resolves clonal populations
Name
nihms-1782664.pdf
Description
Accepted version
Size
978.26 KB
Format
Adobe PDF
Checksum (MD5)
7711ed5a3f0d36b57a0de73ea0a70c47
Author(s)
Miller, Tyler E
Lareau, Caleb A
Verga, Julia A
DePasquale, Erica AK
Liu, Vincent
Ssozi, Daniel
Sandor, Katalin
Yin, Yajie
Ludwig, Leif S
El Farran, Chadi A
Date Issued
February 24, 2022
Journal
Nature Biotechnology
Publisher
Springer Science and Business Media LLC
Citation
Miller, T.E., Lareau, C.A., Verga, J.A. et al. Mitochondrial variant enrichment from high-throughput single-cell RNA sequencing resolves clonal populations. Nat Biotechnol 40, 1030–1034 (2022).
Version
Author's final manuscript
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.
MIT Department
Broad Institute of MIT and Harvard
Massachusetts Institute of Technology. Department of Chemical Engineering
Koch Institute for Integrative Cancer Research at MIT
Terms of Use
Creative Commons Attribution-Noncommercial-ShareAlike
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DOI of Published Version
https://doi.org/10.1038/s41587-022-01210-8
