Category: Parkinson's Disease: Genetics
Objective: To expand the research dataset for Parkinson’s Disease (PD) and related disorders by including >50,000 participants globally who have been genotyped or whole genome sequenced, enhanced by new quality control measures and the introduction of locally-restricted GDPR samples.
Background: GP2’s most recent data release introduces a substantial increase in genetic data available for PD research, offering comprehensive genetic and clinical information and implementing a new ancestry group to better represent complex admixture.
Method: New quality control protocols with GenoTools (v1.0.0) ensure data integrity, and variant calling in the whole genome sequences uses DeepVariant-GLnexus for accuracy. Using our ancestry prediction machine learning model, based on the 1000 Genomes (1KG) panel among other reference datasets, we classify participants into one of 11 ancestry groups.
Results: The integration of locally-restricted GDPR samples via the Verily Viewpoint Workbench and the inclusion of comprehensive clinical data for around 14,000 individuals marks significant progress. The latest data includes ~28,000 PD cases, ~19,000 controls, and ~4,000 with other/atypical phenotypes for genotyped individuals, and ~2,000 PD cases, ~300 controls, and ~200 with other/atypical phenotypes for whole genome sequences.
Conclusion: GP2 consistent releases significantly enhances the research landscape with its commitment to diversity, expanded dataset, advanced quality controls, and the integration of rich clinical data. We hope these advancements promise to drive forward the understanding and treatment of PD and related disorders.
References: Global Parkinson’s Genetics Program. GP2: The Global Parkinson’s Genetics Program. Mov Disord. 2021 Apr;36(4):842-851. doi: 10.1002/mds.28494. Epub 2021 Jan 29. PMID: 33513272; PMCID: PMC9290711.
To cite this abstract in AMA style:
G. Parkinson'S_genetics_program. Expanding Diversity of Parkinson’s Disease and Related Disorders Genetic Data: from the Global Parkinson’s Genetics Program [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/expanding-diversity-of-parkinsons-disease-and-related-disorders-genetic-data-from-the-global-parkinsons-genetics-program/. Accessed May 9, 2025.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/expanding-diversity-of-parkinsons-disease-and-related-disorders-genetic-data-from-the-global-parkinsons-genetics-program/