Article

Advancing mitochondrial DNA analysis: Utility of PacBio long-read sequencing technology in accurate and precise mtDNA SNV and CNV variant detection

2025-06-12

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Primary Mitochondrial Diseases (PMD) can arise from pathogenic variants in mitochondrial DNA (mtDNA), including single-nucleotide variants (SNVs), small indels, single large-scale mtDNA deletions (SLSMD), and multiple mtDNA deletions (MMD). Accurate detection of and distinction between MMDs and SLSMDs, along with heteroplasmy quantification, is essential for PMD...

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Literature Corpus work: 3288e666-7251-53f8-8e38-69aa04a84d05
DOI: 10.21203/rs.3.rs-6727783/v1

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