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

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 genetic testin...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Xie, Zhiying, Sun, Chengyue, Zhang, Siwen, Liu, Yilin, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Acharya, Anushree, Cornejo‐Sanchez, Diana M, Wang, Gao, Zhang, Wei, Schrauwen, Isabelle, Leal, Suzanne M., Wang, Zhaoxia, Yuan, Yun
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7545597/
https://ncbi.nlm.nih.gov/pubmed/32951359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51201
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