| Title: | The Parkinson's Disease DNA Variant Browser |
| Journal: | Movement Disorders |
| Published: | 26 Jan 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/33497488/ |
| DOI: | https://doi.org/10.1002/mds.28488 |
| URL: | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28488 |
Publication 13718
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Abstract
BACKGROUND: Parkinson's disease (PD) is a genetically complex neurodegenerative disease with ~20 genes known to contain mutations that cause PD or atypical parkinsonism. Large-scale next-generation sequencing projects have revolutionized genomics research. Applying these data to PD, many genes have been reported to contain putative disease-causing mutations. In most instances, however, the results remain quite limited and rather preliminary. Our aim was to assist researchers on their search for PD-risk genes and variant candidates with an easily accessible and open summary-level genomic data browser for the PD research community.</p>
METHODS: Sequencing and imputed genotype data were obtained from multiple sources and harmonized and aggregated.</p>
RESULTS: In total we included a total of 102,127 participants, including 28,453 PD cases, 1650 proxy cases, and 72,024 controls.</p>
CONCLUSIONS: We present here the Parkinson's Disease Sequencing Browser: a Shiny-based web application that presents comprehensive summary-level frequency data from multiple large-scale genotyping and sequencing projects https://pdgenetics.shinyapps.io/VariantBrowser/. Published © 2021 This article is a U.S. Government work and is in the public domain in the USA. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>
6 Keywords
- DNA
- Humans
- Mutation
- Neurodegenerative Diseases
- Parkinson Disease
- Parkinsonian Disorders
13 Authors
- Jonggeol J. Kim
- Mary B. Makarious
- Sara Bandres-Ciga
- Jesse Raphael Gibbs
- Jinhui Ding
- Dena G. Hernandez
- Janet Brooks
- Francis P. Grenn
- Hirotaka Iwaki
- Andrew B. Singleton
- Mike A. Nalls
- Cornelis Blauwendraat
- International Parkinson's Disease Genomics Consortium
1 Application
| Application ID | Title |
|---|---|
| 33601 | Dissecting the genetic architecture of neurodegenerative diseases |
Enabling scientific discoveries that improve human health