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

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

Abstract 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 challeng...

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Bibliographic Details
Main Authors: Yan Lin, Jiayin Wang, Ran Xu, Zhe Xu, Yifan Wang, Shirang Pan, Yan Zhang, Qing Tao, Yuying Zhao, Chuanzhu Yan, Zhenhua Cao, Kunqian Ji
Format: Article
Language:English
Published: BMC 2024-05-01
Series:BMC Genomics
Subjects:
HiFi sequencing
Mitochondrial disease
mtDNA
SV
SNV
Online Access:https://doi.org/10.1186/s12864-024-10433-9

Internet

https://doi.org/10.1186/s12864-024-10433-9

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