The genomic landscape of Meniere's disease: a path to endolymphatic hydrops.

ABSTRACT:

Background

Ménière's disease (MD) is a disorder of the inner ear that causes episodic bouts of severe dizziness, roaring tinnitus, and fluctuating hearing loss. To date, no targeted therapy exists. As such, we have undertaken a large whole genome sequencing study on carefully phenotyped unilateral MD patients with the goal of gene/pathway discovery and a move towards targeted intervention. This study was a retrospective review of patients with a history of Ménière's disease. Genomic DNA, acquired from saliva samples, was purified and subjected to whole genome sequencing.

Results

Stringent variant calling, performed on 511 samples passing quality checks, followed by gene-based filtering by recurrence and proximity in molecular interaction networks, led to 481 high priority MD

SUBMITTER: Fisch KM 

PROVIDER: S-EPMC11212243 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature