Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

IntroductionMucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in ARSB gene. Usually, whole exome sequencing (WES) can identify these variants, and if WES failed to detect causative variants, whole-genome sequencing (WGS) may be con...

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Bibliographic Details
Main Authors: Yufeng Huang, Wenyue Deng, Hui Huang, Xiankai Zhang, Xiaohong Chen, Jian Ye, Sukun Luo, Ting Yu, Hui Yao, Hao Du, Xuelian He
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
Subjects:
mucopolysaccharidosis type VI
whole-genome sequencing
ARSB
inversion
breakpoint
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1452498/full
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