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Updated: Apr 21, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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The Global Parkinson's Disease Genetics (GP2) Genome Browser.
Zih-Hua Fang1,2, Riley H Grant3, Dan Vitale1,4
1DataTecnica, Washington, District of Columbia, USA.
Summary
The GP2 Genome Browser offers accessible Parkinson's disease genomic data, integrating whole-genome and clinical-exome sequencing from diverse ancestries. This open-access platform aids in identifying disease-risk variants for global research.
Area of Science:
- Genomics
- Neurodegenerative Diseases
- Bioinformatics
Background:
- Large-scale sequencing generates vast genomic data crucial for variant interpretation.
- Bioinformatics expertise is often required for effective utilization of genomic resources.
- Identifying Parkinson's disease (PD) risk and causative variants necessitates accessible genomic data.
Purpose of the Study:
- To develop an open-access, summary-level genomic data browser for Parkinson's disease research.
- To facilitate the identification of genetic variants associated with PD risk.
- To support researchers in interpreting genomic data for PD.
Main Methods:
- Uniform joint variant calling was performed on whole-genome sequencing (WGS) data.
- Data integrated AMP-PD Release 4, GP2 Data Releases, and Alzheimer's Disease Sequencing Project controls.
- Clinical-exome sequencing (CES) data from GP2 Release 8 was also incorporated.
Main Results:
- The integrated dataset comprises 31,665 WGS and 9,559 CES samples.
- The data spans 11 ancestries and includes over 300 million variants.
- The GP2 Genome Browser provides gene- and variant-level summaries.
Conclusions:
- The GP2 Genome Browser is an open-source, freely accessible platform.
- It offers intuitive summaries with ancestry-stratified allele frequencies and functional annotations.
- The browser supports global Parkinson's disease research efforts by enabling broad access to genomic data.
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