From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing

Approximately 2–5 % of dystrophinopathy cases remain undiagnosed at the molecular level following standard multiplex ligation-dependent probe amplification (MLPA) and exome sequencing (ES), precluding these patients from variant-specific genetic counseling and therapy eligibility assessment. We deve...

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Hlavní autoři:	Lei Zhao, Shirang Pan, Chaoping Hu, Yiyun Shi, Xihua Li
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2025-01-01
Edice:	Computational and Structural Biotechnology Journal
Témata:	Dystrophinopathy Duchenne muscular dystrophy Muscle biopsy Long-read sequencing RNA-seq Pseudoexon
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2001037025004519
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