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SCIENTIFIC LITERATURE · MED

The Parkinson's Disease DNA Variant Browser.

Mov Disord · 2021-01-26

DOI: 10.1002/mds.28488PMID: 33497488

Open accessResearch Support, N.I.H., Intramural; brief-report; Research Support, Non-U.S. Gov't; Journal Article; Research Support, N.I.H., ExtramuralOriginal source ↗

Research overview

The text below is the source article’s original abstract under a verified reuse license. cc by

BackgroundParkinson'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.MethodsSequencing and imputed genotype data were obtained from multiple sources and harmonized and aggregated.ResultsIn total we included a total of 102,127 participants, including 28,453 PD cases, 1650 proxy cases, and 72,024 controls.ConclusionsWe 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.

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