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The Parkinson's Disease DNA Variant Browser.

Authors :
Kim JJ
Makarious MB
Bandres-Ciga S
Gibbs JR
Ding J
Hernandez DG
Brooks J
Grenn FP
Iwaki H
Singleton AB
Nalls MA
Blauwendraat C
Source :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 May; Vol. 36 (5), pp. 1250-1258. Date of Electronic Publication: 2021 Jan 26.
Publication Year :
2021

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.<br />Methods: Sequencing and imputed genotype data were obtained from multiple sources and harmonized and aggregated.<br />Results: In total we included a total of 102,127 participants, including 28,453 PD cases, 1650 proxy cases, and 72,024 controls.<br />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.<br /> (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.)

Details

Language :
English
ISSN :
1531-8257
Volume :
36
Issue :
5
Database :
MEDLINE
Journal :
Movement disorders : official journal of the Movement Disorder Society
Publication Type :
Academic Journal
Accession number :
33497488
Full Text :
https://doi.org/10.1002/mds.28488