Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy

Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy

Abstract Objective Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation‐dependent probe amplification (MLPA) and next‐generation sequencing (NGS). We used the optical genome mapping (OGM) technology to...

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Main Authors: Jiahui Mai, Jing Duan, Xiaoyu Chen, Liqin Liu, Dachao Liang, Tao Fu, Gang Lu, Wai Yee Chan, Xufeng Luo, Feiqiu Wen, Jianxiang Liao, Zhuo Li, Xinguo Lu
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.52245
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