パーキンソン病遺伝学(GP2)ゲノムブラウザ
Zih-Hua Fang1,2, Riley H Grant3, Dan Vitale1,4
1DataTecnica, Washington, DC, USA.
Background:
Large-scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease-causing variants, we developed an open-access, summary-level genomic data browser.
Methods:
We performed uniform joint variant calling to harmonize whole-genome sequencing (WGS) data from AMP-PD Release 4, GP2 Data Releases, and additional controls from the Alzheimer's Disease Sequencing Project. Clinical exome sequencing (CES) data from GP2 Release 8 was also included.
Results:
The integrated dataset includes 31,665 WGS and 9,559 CES samples, spanning eleven ancestries and over 300 million variants.
Conclusion:
The GP2 Genome Browser is a lightweight, flexible platform providing intuitive gene- and variant-level summaries with ancestry-stratified allele frequencies and functional annotations. It is open source and freely accessible at https://gp2.broadinstitute.org, enabling broad access to PD genomic data and supporting global research efforts.
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