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Article

HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA.

BMC genomics - 31 May 2024

Lin Yan, Wang Jiayin, Xu Ran, Xu Zhe, Wang Yifan, Pan Shirang, Zhang Yan, Tao Qing, Zhao Yuying, Yan Chuanzhu, Cao Zhenhua, Ji Kunqian

Abstract excerpt

BACKGROUND: Mitochondrial diseases (MDs) can be caused by single nucleotide variants (SNVs) and structural variants (SVs) in the mitochondrial genome (mtDNA). Presently, identifying deletions in small to medium-sized fragments and accurately detecting low-percentage variants remains challenging due to the limitations of next-generation sequencing (NGS). METHODS: In this study, we integrated targeted long-range...

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Share to DNA, Mitochondrial
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Polymerase Chain Reaction

Share to Polymorphism, Single Nucleotide

Share to Sequence Analysis, DNA

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Identifiers

PMID: 38822239
DOI: 10.1186/s12864-024-10433-9
PMCID: PMC11141058

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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