Genome-Wide Analysis of Structural Variants in Parkinson Disease.

ABSTRACT:

Objective

Identification of genetic risk factors for Parkinson disease (PD) has to date been primarily limited to the study of single nucleotide variants, which only represent a small fraction of the genetic variation in the human genome. Consequently, causal variants for most PD risk are not known. Here we focused on structural variants (SVs), which represent a major source of genetic variation in the human genome. We aimed to discover SVs associated with PD risk by performing the first large-scale characterization of SVs in PD.

Methods

We leveraged a recently developed computational pipeline to detect and genotype SVs from 7,772 Illumina short-read whole genome sequencing samples. Using this set of SV variants, we performed a genome-wide association study using 2,585 cases

SUBMITTER: Billingsley KJ 

PROVIDER: S-EPMC10192042 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature