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 sequencing

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 sequencing

Abstract Background Dystrophinopathies are the most common X-linked inherited muscle diseases, and the disease-causing gene is DMD. Exonic duplications are a common type of pathogenic variants in the DMD gene, however, 5’ end exonic duplications containing exon 1 are less common. When assessing the...

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Bibliographic Details
Main Authors: Jiandong Shen, Taoli Ding, Xueping Sun, Ji Yang, Yue Zhang, Jing Wang, Mengdi Ge, Heng Xu, Jiazi Xie, Fei Wang, Feiyang Diao
Format: Article
Language:English
Published: BMC 2024-03-01
Series:BMC Genomics
Subjects:
DMD
Long-read sequencing (LRS)
Exonic duplications
Dp427c/Dp427m
Online Access:https://doi.org/10.1186/s12864-024-10224-2

Internet

https://doi.org/10.1186/s12864-024-10224-2

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