The Parkinson's Disease DNA Variant Browser

帕金森病 DNA 变异浏览器

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作者: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 (IPDGC)

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

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.

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.

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