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

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Item Type:Preprint
Title:Mitochondrial variant enrichment from high-throughput single-cell RNA-seq resolves clonal populations
Creators Name:Miller, T.E. and Lareau, C.A. and Verga, J.A. and Ssozi, D. and Ludwig, L.S. and El Farran, C. and Griffin, G.K. and Lane, A.A. and Bernstein, B.E. and Sankaran, V.G. and van Galen, P.
Abstract:Reconstructing lineage relationships in complex tissues can reveal mechanisms underlying development and disease. Recent methods combine single-cell transcriptomics with mitochondrial DNA variant detection to establish lineage relationships in primary human cells, but are not scalable to interrogate complex tissues. To overcome this limitation, here we develop a technology for high-confidence detection of mitochondrial mutations from high-throughput single-cell RNA-sequencing. We use the new method to identify skewed immune cell expansions in primary human clonal hematopoiesis.
Source:bioRxiv
Publisher:Cold Spring Harbor Laboratory Press
Article Number:2021.03.08.434450
Date:9 March 2021
Official Publication:https://doi.org/10.1101/2021.03.08.434450

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