[Application of whole exome sequencing in the diagnosis of hereditary neurological diseases].

@article{Ilinsky2015ApplicationOW,
  title={[Application of whole exome sequencing in the diagnosis of hereditary neurological diseases].},
  author={Valery V Ilinsky and V. A. Korneeva and P. A. Shatalov},
  journal={Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova},
  year={2015},
  volume={115 1},
  pages={
          45-52
        }
}
Whole Exome Sequencing (WES) is a promising method in human genetics. Because the majority of pathogenic mutations that lead to the development of diseases are localized in exons and splice sites, WES could become a major tool for the diagnosis of diseases with a complex hereditary nature. This tool appears to be particularly useful for hereditary neurological diseases, such as autism spectrum disorders, Charcot-Marie-Tooth disease and others. In our review, we discuss the clinical application… 
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