Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis

IntroductionThe molecular diagnosis of mitochondrial disorders is complicated by phenotypic variability, genetic heterogeneity, and the complexity of mitochondrial heteroplasmy. Next-generation sequencing (NGS) of the mitochondrial genome in combination with a targeted panel of nuclear genes associa...

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Bibliographic Details
Main Authors: Elizabeth Gorman, Hongzheng Dai, Yanming Feng, William James Craigen, David C. Y. Chen, Fan Xia, Linyan Meng, Pengfei Liu, Robert Rigobello, Arpita Neogi, Christine M. Eng, Yue Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Genetics
Subjects:
mitochondria
NGS
dual-genome
heteroplasmy
functional group analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1488956/full
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