The Parkinson's Disease DNA Variant Browser.

Area of Science:

• Genomics
• Neurodegenerative Diseases
• Bioinformatics

Background:

• Parkinson's disease (PD) is a complex neurodegenerative disorder with known genetic links.
• Over 20 genes are associated with PD or atypical parkinsonism.
• Genomic research has identified numerous potential PD-causing mutations, but findings are often preliminary.

Purpose of the Study:

• To create an accessible, open-access summary-level genomic data browser for the Parkinson's disease research community.
• To aid researchers in identifying potential Parkinson's disease-risk genes and genetic variants.

Main Methods:

• Harmonized and aggregated sequencing and imputed genotype data from multiple sources.
• Included data from 102,127 participants: 28,453 PD cases, 1650 proxy cases, and 72,024 controls.

Main Results:

• A comprehensive summary-level frequency dataset of genetic variants associated with Parkinson's disease has been compiled.
• The dataset integrates information from large-scale genotyping and sequencing projects.

Conclusions:

• The Parkinson's Disease Sequencing Browser is a novel Shiny-based web application.
• It provides researchers with a valuable resource for exploring genetic data related to Parkinson's disease.
• The browser is publicly accessible at https://pdgenetics.shinyapps.io/VariantBrowser/.