The Global Parkinson's Disease Genetics (GP2) Genome Browser

Area of Science:

• Genomics
• Bioinformatics
• Neurodegenerative Diseases

Background:

• Large-scale sequencing initiatives provide valuable genomic data for variant interpretation.
• Interpreting genomic data often requires specialized bioinformatics expertise.
• Identifying Parkinson's disease (PD) risk and causal variants is crucial for understanding the disease.

Purpose of the Study:

• To develop an open-access, summary-level genomic data browser.
• To facilitate the identification of Parkinson's disease (PD) risk and disease-causing variants.
• To make complex genomic data more accessible to researchers.

Main Methods:

• Uniform joint variant calling was performed on whole-genome sequencing (WGS) data from multiple large-scale projects (AMP-PD, GP2, ADSP).
• Clinical exome sequencing (CES) data was integrated into the analysis.
• Data harmonization across different sequencing datasets was achieved.

Main Results:

• An integrated dataset comprising 31,665 WGS and 9,559 CES samples was created.
• The dataset includes over 300 million variants across eleven ancestries.
• The GP2 Genome Browser was developed as a platform for accessing this data.

Conclusions:

• The GP2 Genome Browser offers intuitive gene- and variant-level summaries.
• It provides ancestry-stratified allele frequencies and functional annotations.
• The browser is open-source, freely accessible, and supports global Parkinson's disease research efforts.