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帕金森病 DNA 变异浏览器。

The Parkinson's Disease DNA Variant Browser.

机构信息

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

Preventive Neurology Unit, Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.

出版信息

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

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.

摘要

背景

帕金森病(PD)是一种遗传复杂的神经退行性疾病,已知有~20 个基因包含导致 PD 或非典型帕金森病的突变。大规模的下一代测序项目彻底改变了基因组学研究。将这些数据应用于 PD,许多基因已被报道含有潜在的致病突变。然而,在大多数情况下,结果仍然相当有限且相当初步。我们的目的是为研究人员寻找 PD 风险基因和变体候选基因提供帮助,为此我们为 PD 研究界开发了一个易于访问的开放汇总水平基因组数据浏览器。

方法

从多个来源获取测序和推断的基因型数据,并进行协调和汇总。

结果

我们总共纳入了 102127 名参与者,包括 28453 名 PD 病例、1650 名代理病例和 72024 名对照。

结论

我们在这里展示了帕金森病测序浏览器:这是一个基于 Shiny 的网络应用程序,它提供了来自多个大规模基因分型和测序项目的综合汇总水平频率数据 https://pdgenetics.shinyapps.io/VariantBrowser/。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e913/8248407/a885dc1d2a2d/MDS-36-1250-g001.jpg

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