Article

Comprehensive Detection and Quantification of mtDNA Variants Using PacBio Long-Read Sequencing

2025-11-13

Abstract excerpt

<title>Abstract</title> <p>Accurate detection of all types of mitochondrial DNA (mtDNA) variants, including single large-scale mtDNA deletions (SLSMDs) and multiple mtDNA deletions (MMDs), along with heteroplasmy quantification, is essential for Primary Mitochondrial Disease (PMD) diagnosis. This study compares amplification-free PacBio Long Read Sequencing (LRS) mtDNA analysis with long-range PCR-based targeted...

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Literature Corpus work: 12a039f5-af62-556f-b30a-d140497d8eb9
DOI: 10.21203/rs.3.rs-7713656/v1

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