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Article

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

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2015

Ilinsky V V, Korneeva V A, Shatalov P A

Abstract excerpt

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 t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25909789
DOI: 10.17116/jnevro20151151145-52

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25909789-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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