MitoDelta: identifying mitochondrial DNA deletions at cell-type resolution from single-cell RNA sequencing data.

ABSTRACT:

Background

Deletion variants in mitochondrial DNA (mtDNA) are associated with various diseases, such as mitochondrial disorders and neurodegenerative diseases. Traditionally, mtDNA deletions have been studied using bulk DNA sequencing, but bulk methods average signals across cells, thereby masking the cell-type-specific mutational landscapes. Resolving mtDNA deletions at single-cell resolution is beneficial for understanding how these mutations affect distinct cell populations. To date, no specialized method exists for detecting cell-type-specific mtDNA deletions from single-cell RNA sequencing data. Notably, mtDNA possesses unique molecular features: a high copy number, stable transcription, and compact structure of the mitochondrial genome. This results in a relatively high abund

SUBMITTER: Nakagawa H 

PROVIDER: S-EPMC12465547 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature