title: [Application of whole exome sequencing in the diagnosis of hereditary neurological diseases].
abstract: 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 of WES, with special emphasis on the diagnosis of hereditary neurological diseases.
authors.affiliation: Genotek Inc., Moscow; Vavilov Institute of General Genetics Russian Academy of Sciences, Moscow.
authors.forename: V V
authors.initials: VV
authors.lastname: Ilinsky
authors.affiliation: Genotek Inc., Moscow.
authors.forename: V A
authors.initials: VA
authors.lastname: Korneeva
authors.affiliation: Genotek Inc., Moscow.
authors.forename: P A
authors.initials: PA
authors.lastname: Shatalov
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis* / Q000235:genetics; D059472:Exome / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000379:methods*