Comparison of Mitochondrial Genome Findings Identified by Genome Sequencing and Focused Mitochondrial Genome Sequencing

June 20, 2026

Background

  • Clinical detection of mitochondrial DNA (mtDNA) disorders can be performed using genome sequencing (GS) or focused mitochondrial genome sequencing (mtGS).
  • GS includes broad coverage of both nuclear and mitochondrial genomes, while focused mtGS offers deeper coverage of the mitochondrial genome.
  • The detection of mtDNA variants is influenced by tissue-specific heteroplasmy, interference from nuclear mtDNA segments, platform-dependent sequencing depth, and assay sensitivity.
  • Here, we identify individuals who underwent both GS and focused mtGS to compare the detection of mtDNA variants.