Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD Patient

Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD Patient

Expanded carrier screening (ECS) has become an increasingly common technique to assess the genetic risks of individuals in the prenatal or preconception period. Unexpected variants unrelated to referral are being increasingly detected in asymptomatic individuals through ECS. In this study, we report...

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Bibliographic Details
Main Authors: Ying Bai, Ju Liu, Jinghan Xu, Yue Sun, Jingjing Li, Yong Gao, Lina Liu, Cangcang Jia, Xiangdong Kong, Li Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Genetics
Subjects:
Duchenne muscular dystrophy
breakpoint analysis
DMD duplication
long-read sequencing
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.878806/full

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