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Article

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

Annals of clinical and translational neurology - 1 Jan 2025

Mai Jiahui, Duan Jing, Chen Xiaoyu, Liu Liqin, Liang Dachao, Fu Tao, Lu Gang, Chan Wai Yee, Luo Xufeng, Wen Feiqiu, Liao Jianxiang, Li Zhuo, Lu Xinguo

Abstract excerpt

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 detect and analyze uncommon mutations or structural variations (SVs) within the DMD gene, thus contributing to more precise...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Duchenne

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Source

Open in PubMed Open full text

Identifiers

PMID: 39575648
DOI: 10.1002/acn3.52245
PMCID: PMC11752086

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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