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. 2021 May;36(5):1250-1258.
doi: 10.1002/mds.28488. Epub 2021 Jan 26.

The Parkinson's Disease DNA Variant Browser

Jonggeol J Kim  1   2 , Mary B Makarious  1 , Sara Bandres-Ciga  1 , Jesse Raphael Gibbs  3 , Jinhui Ding  3 , Dena G Hernandez  1 , Janet Brooks  1 , Francis P Grenn  1 , Hirotaka Iwaki  1   4 , Andrew B Singleton  1 , Mike A Nalls  1   4 , Cornelis Blauwendraat  1 ; International Parkinson's Disease Genomics Consortium (IPDGC)
Affiliations

The Parkinson's Disease DNA Variant Browser

Jonggeol J Kim et al. Mov Disord. 2021 May.

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.

Methods: Sequencing and imputed genotype data were obtained from multiple sources and harmonized and aggregated.

Results: In total we included a total of 102,127 participants, including 28,453 PD cases, 1650 proxy cases, and 72,024 controls.

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.

Keywords: Parkinson's disease; data browser; genetics; sequencing.

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Figures

FIG. 1
FIG. 1
Parkinson's Disease Sequencing Browser processing pipeline flowchart. [Color figure can be viewed at wileyonlinelibrary.com]
See this image and copyright information in PMC

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