Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion.

ABSTRACT:

Background

The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the length of this repeat expansion in multiple tissues, technological limitations have impeded researchers from exploring additional features, such as methylation levels.

Methods

We aimed to characterize C9orf72 repeat expansions using a targeted, amplification-free long-read sequencing method. Our primary goal was to determine the presence and subsequent quantification of observed methylation in the C9orf72 repeat expansion. In addition, we measured the repeat length and purity of the expansion. To do this, we sequenced DNA extracted from blood for 27 individuals with an expanded C9o

SUBMITTER: Udine E 

PROVIDER: S-EPMC11663317 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature