Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies

Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies

Abstract The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remained without a genetic diagnosis after routine genet...

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Bibliographic Details
Main Authors: Zhiying Xie, Chengyue Sun, Siwen Zhang, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Anushree Acharya, Diana M Cornejo‐Sanchez, Gao Wang, Wei Zhang, Isabelle Schrauwen, Suzanne M. Leal, Zhaoxia Wang, Yun Yuan
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51201

Internet

https://doi.org/10.1002/acn3.51201

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