Article
Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.
Annals of clinical and translational neurology - 1 Oct 2020
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
Abstract excerpt
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 testing, dystrophin protein and mRNA analysis, and short- and long-read whole DMD gene sequencing. We finally identified a...
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