Work

P830: Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing

Year: 2024

Type: article

Abstract: Multiple mitochondrial DNA (mtDNA) deletions refer to large scale mtDNA deletions of different sizes co-occurring in a single specimen. The presence of mtDNA deletions is typically associated with defects in nuclear genes that involve mtDNA biogenesis and maintenance. The common clinical test for mitochondrial genome is using long-range PCR (LR-PCR) to amplify the full length mtDNA, followed by short-read Next Generation Sequencing (NGS) for large scale mtDNA deletion detection. The ultra-high coverage depth in short-read NGS is highly effective at detecting SNV and SNV heteroplasmy quantification.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101741