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DOI 10.64898/2025.12.29.25343143

Медицинская библиотека · medRxiv : the preprint server for health sciences · 2025

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

Fang Zih-Hua, Grant Riley H, Vitale Dan, Hernandez Carlos F, Hong Samantha, Leonard Hampton L, Makarious Mary B, Lange Lara M, Solomonson Matthew, Heutink Peter, Dilliott Allison A, Galvelis Kamalini Ghosh, Nalls Mike A, Singleton Andrew B, Blauwendraat Cornelis, Global Parkinson’s Genetics Program (GP2)

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Аннотация

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.

Для цитирования: Fang Zih-Hua, Grant Riley H, Vitale Dan, Hernandez Carlos F, Hong Samantha, Leonard Hampton L, Makarious Mary B, Lange Lara M, Solomonson Matthew, Heutink Peter, Dilliott Allison A, Galvelis Kamalini Ghosh, Nalls Mike A, Singleton Andrew B, Blauwendraat Cornelis, Global Parkinson’s Genetics Program (GP2). The Global Parkinson's Disease Genetics (GP2) Genome Browser.. medRxiv : the preprint server for health sciences. 2025. DOI: 10.64898/2025.12.29.25343143.
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