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The Parkinson's Disease DNA Variant Browser

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...

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Autores principales: Kim, Jonggeol J., Makarious, Mary B., Bandres‐Ciga, Sara, Gibbs, Jesse Raphael, Ding, Jinhui, Hernandez, Dena G., Brooks, Janet, Grenn, Francis P., Iwaki, Hirotaka, Singleton, Andrew B., Nalls, Mike A., Blauwendraat, Cornelis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8248407/
https://www.ncbi.nlm.nih.gov/pubmed/33497488
http://dx.doi.org/10.1002/mds.28488
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author Kim, Jonggeol J.
Makarious, Mary B.
Bandres‐Ciga, Sara
Gibbs, Jesse Raphael
Ding, Jinhui
Hernandez, Dena G.
Brooks, Janet
Grenn, Francis P.
Iwaki, Hirotaka
Singleton, Andrew B.
Nalls, Mike A.
Blauwendraat, Cornelis
author_facet Kim, Jonggeol J.
Makarious, Mary B.
Bandres‐Ciga, Sara
Gibbs, Jesse Raphael
Ding, Jinhui
Hernandez, Dena G.
Brooks, Janet
Grenn, Francis P.
Iwaki, Hirotaka
Singleton, Andrew B.
Nalls, Mike A.
Blauwendraat, Cornelis
author_sort Kim, Jonggeol J.
collection PubMed
description 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.
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spelling pubmed-82484072021-07-06 The Parkinson's Disease DNA Variant Browser Kim, Jonggeol J. Makarious, Mary B. Bandres‐Ciga, Sara Gibbs, Jesse Raphael Ding, Jinhui Hernandez, Dena G. Brooks, Janet Grenn, Francis P. Iwaki, Hirotaka Singleton, Andrew B. Nalls, Mike A. Blauwendraat, Cornelis Mov Disord Regular Issue Articles 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. John Wiley & Sons, Inc. 2021-01-26 2021-05 /pmc/articles/PMC8248407/ /pubmed/33497488 http://dx.doi.org/10.1002/mds.28488 Text en 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. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Regular Issue Articles
Kim, Jonggeol J.
Makarious, Mary B.
Bandres‐Ciga, Sara
Gibbs, Jesse Raphael
Ding, Jinhui
Hernandez, Dena G.
Brooks, Janet
Grenn, Francis P.
Iwaki, Hirotaka
Singleton, Andrew B.
Nalls, Mike A.
Blauwendraat, Cornelis
The Parkinson's Disease DNA Variant Browser
title The Parkinson's Disease DNA Variant Browser
title_full The Parkinson's Disease DNA Variant Browser
title_fullStr The Parkinson's Disease DNA Variant Browser
title_full_unstemmed The Parkinson's Disease DNA Variant Browser
title_short The Parkinson's Disease DNA Variant Browser
title_sort parkinson's disease dna variant browser
topic Regular Issue Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8248407/
https://www.ncbi.nlm.nih.gov/pubmed/33497488
http://dx.doi.org/10.1002/mds.28488
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