Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

ABSTRACT:

Background

Gene discovery has provided remarkable biological insights into amyotrophic lateral sclerosis (ALS). One challenge for clinical application of genetic testing is critical evaluation of the significance of reported variants.

Methods

We use whole exome sequencing (WES) to develop a clinically relevant approach to identify a subset of ALS patients harboring likely pathogenic mutations. In parallel, we assess if DNA methylation can be used to screen for pathogenicity of novel variants since a methylation signature has been shown to associate with the pathogenic C9orf72 expansion, but has not been explored for other ALS mutations. Australian patients identified with ALS-relevant variants were cross-checked with population databases and case reports to critically

SUBMITTER: Garton FC 

PROVIDER: S-EPMC5511806 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature