Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.

ABSTRACT: Background: Parkinson's disease (PD) is a complex disease with its monogenic forms accounting for less than 10% of all cases. Whole-exome sequencing (WES) technology has been used successfully to find mutations in large families. However, because of the late onset of the disease, only small families and unrelated patients are usually available. WES conducted in such cases yields in a large number of candidate variants. There are currently a number of imperfect software tools that allow the pathogenicity of variants to be evaluated. Objectives: We analyzed 48 unrelated patients with an alleged autosomal dominant familial form of PD using WES and developed a strategy for selecting potential pathogenetically significant variants using almost all available bioinformatics resource

SUBMITTER: Shulskaya MV 

PROVIDER: S-EPMC5963122 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature