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

Miller, T. E.; Lareau, C. A.; Verga, J. A.; Ssozi, D.; Ludwig, L. S.; El Farran, C.; Griffin, G. K.; Lane, A. A.; Bernstein, B. E.; Sankaran, V. G.; van Galen, P.

doi:10.1101/2021.03.08.434450

bioRxiv · 10.1101/2021.03.08.434450

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

Miller, T. E.·Lareau, C. A.·Verga, J. A.·Ssozi, D.·Ludwig, L. S.·El Farran, C.·Griffin, G. K.·Lane, A. A.·Bernstein, B. E.·Sankaran, V. G.·van Galen, P.

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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.

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Miller, T. E., Lareau, C. A., Verga, J. A., Ssozi, D., Ludwig, L. S., El Farran, C., Griffin, G. K., Lane, A. A., Bernstein, B. E., Sankaran, V. G., van Galen, P.. 2021-03-09. Mitochondrial variant enrichment from high-throughput single-cell RNA-seq resolves clonal populations. https://doi.org/10.1101/2021.03.08.434450

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