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

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.

SUBMITTER: Miller TE

PROVIDER: S-EPMC9288977 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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

Miller Tyler E TE Lareau Caleb A CA Verga Julia A JA DePasquale Erica A K EAK Liu Vincent V Ssozi Daniel D Sandor Katalin K Yin Yajie Y Ludwig Leif S LS El Farran Chadi A CA Morgan Duncan M DM Satpathy Ansuman T AT Griffin Gabriel K GK Lane Andrew A AA Love J Christopher JC Bernstein Bradley E BE Sankaran Vijay G VG van Galen Peter P

Nature biotechnology 20220224 7

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 ...[more]

PMID: 35210612

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

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