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Article

Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.

Clinical chemistry - 3 Feb 2026

Sun Jin, Tang Jie, Wei Lu, Geng Juan, Xiao Rui, Li Niu, Li Shuyuan, Wang Jian, Fu Qihua, Yao Ruen, Yu Tingting

Abstract excerpt

BACKGROUND: Duchenne and Becker muscular dystrophies are X-linked neuromuscular disorders caused by mutations in the dystrophin gene (DMD). Duplications account for approximately 10% of pathogenic variants, but their structural complexity and variable clinical impact present significant challenges in pathogenicity interpretation. METHODS: We retrospectively analyzed whole exome sequencing and multiplex...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41206630
DOI: 10.1093/clinchem/hvaf136

Genes

DMD

Provenance

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

Related research

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Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.PMID 41206630Read ↗

Integrated Genotyping Strategies Uncovering Detailed Haplotype Structures and Characterization of DMD duplicationsSemantic proximity Read ↗

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A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testingSemantic proximity Read ↗

Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencingSemantic proximity Read ↗

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.Semantic proximity Read ↗

Rethinking the pathogenicity of intragenic<i>DMD</i>duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencingSemantic proximity Read ↗

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Reclassification of DMD Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal ScreeningSemantic proximity Read ↗

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