Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource Article Swipe
Hirotaka Iwaki
,
Hampton L. Leonard
,
Mary B. Makarious
,
Matt Bookman
,
Barry Landin
,
David Vismer
,
Bradford Casey
,
J. Raphael Gibbs
,
Dena Hernández
,
Cornelis Blauwendraat
,
Dan Vitale
,
Yeajin Song
,
Dinesh Kumar
,
Clifton L. Dalgard
,
Mahdiar Sadeghi
,
Xianjun Dong
,
Leonie Misquitta
,
Sonja W. Scholz
,
Clemens R. Scherzer
,
Mike A. Nalls
,
Shameek Biswas
,
Andrew Singleton
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1002/mds.28549
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1002/mds.28549
Background Whole‐genome sequencing data are available from several large studies across a variety of diseases and traits. However, massive storage and computation resources are required to use these data, and to achieve sufficient power for discoveries, harmonization of multiple cohorts is critical. Objectives The Accelerating Medicines Partnership Parkinson's Disease program has developed a research platform for Parkinson's disease (PD) that integrates the storage and analysis of whole‐genome sequencing data, RNA expression data, and clinical data, harmonized across multiple cohort studies. Methods The version 1 release contains whole‐genome sequencing data derived from 3941 participants from 4 cohorts. Samples underwent joint genotyping by the TOPMed Freeze 9 Variant Calling Pipeline. We performed descriptive analyses of these whole‐genome sequencing data using the Accelerating Medicines Partnership Parkinson's Disease platform. Results The clinical diagnosis of participants in version 1 release includes 2005 idiopathic PD patients, 963 healthy controls, 64 prodromal subjects, 62 clinically diagnosed PD subjects without evidence of dopamine deficit, and 705 participants of genetically enriched cohorts carrying PD risk‐associated GBA variants or LRRK2 variants, of whom 304 were affected. We did not observe significant enrichment of pathogenic variants in the idiopathic PD group, but the polygenic risk score was higher in PD both in nongenetically enriched cohorts and genetically enriched cohorts. The population analysis showed a correlation between genetically enriched cohorts and Ashkenazi Jewish ancestry. Conclusions We describe the genetic component of the Accelerating Medicines Partnership Parkinson's Disease platform, a solution to democratize data access and analysis for the PD research community. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article is a U.S. Government work and is in the public domain in the USA.
Related Topics
Concepts
Disease
LRRK2
Medicine
Parkinson's disease
Whole genome sequencing
Genotyping
Cohort
General partnership
Population
Genome-wide association study
Genome
Genetics
Biology
Genotype
Internal medicine
Single-nucleotide polymorphism
Gene
Environmental health
Finance
Economics
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/mds.28549
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28549
- OA Status
- hybrid
- Cited By
- 112
- References
- 23
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3158274091
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3158274091Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/mds.28549Digital Object Identifier
- Title
-
Accelerating Medicines Partnership: Parkinson's Disease. Genetic ResourceWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2021Year of publication
- Publication date
-
2021-05-07Full publication date if available
- Authors
-
Hirotaka Iwaki, Hampton L. Leonard, Mary B. Makarious, Matt Bookman, Barry Landin, David Vismer, Bradford Casey, J. Raphael Gibbs, Dena Hernández, Cornelis Blauwendraat, Dan Vitale, Yeajin Song, Dinesh Kumar, Clifton L. Dalgard, Mahdiar Sadeghi, Xianjun Dong, Leonie Misquitta, Sonja W. Scholz, Clemens R. Scherzer, Mike A. Nalls, Shameek Biswas, Andrew SingletonList of authors in order
- Landing page
-
https://doi.org/10.1002/mds.28549Publisher landing page
- PDF URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28549Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28549Direct OA link when available
- Concepts
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Disease, LRRK2, Medicine, Parkinson's disease, Whole genome sequencing, Genotyping, Cohort, General partnership, Population, Genome-wide association study, Genome, Genetics, Biology, Genotype, Internal medicine, Single-nucleotide polymorphism, Gene, Environmental health, Finance, EconomicsTop concepts (fields/topics) attached by OpenAlex
- Cited by
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112Total citation count in OpenAlex
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2025: 23, 2024: 33, 2023: 25, 2022: 25, 2021: 6Per-year citation counts (last 5 years)
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23Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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