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首页> 外文期刊>Nucleic Acids Research >MDPD: an integrated genetic information resource for Parkinson's disease.
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MDPD: an integrated genetic information resource for Parkinson's disease.

机译:MDPD:帕金森氏病的综合遗传信息资源。

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摘要

Parkinson's disease (PD) is the second most common neurodegenerative disorder affecting millions of people. Both environmental and genetic factors play important roles in its causation and development. Genetic analysis has shown that over 100 genes are correlated with the etiology and pathology of PD. However, accessing genetic information in a consistent and fruitful way is not an easy task. The Mutation Database for Parkinson's Disease (MDPD) is designed to fulfill the need for information integration so that users can easily retrieve, inspect and enhance their knowledge on PD. The database contains 2391 entries on 202 genes extracted from 576 publications and manually examined by biomedical researchers. Each genetic substitution and the resulting impact are clearly labelled and linked to its primary reference. Every reported gene has a summary page that provides information on the variation impact, mutation type, the studied population, mutation position and reference collection. In addition, MDPD provides a unique functionality for users to compare the differences on the type of mutations among ethnic groups. As such, we hope that MDPD will serve as a valuable tool to bridge the gap between genetic analysis and clinical practice. MDPD is publicly accessible at http://datam.i2r.a-star.edu.sg/mdpd/.
机译:帕金森氏病(PD)是影响数百万人的第二大最常见的神经退行性疾病。环境和遗传因素在其成因和发展中都起着重要作用。遗传分析表明,有100多个基因与PD的病因和病理相关。但是,以一致且富有成果的方式获取遗传信息并非易事。帕金森氏病突变数据库(MDPD)旨在满足信息集成的需求,以便用户可以轻松地检索,检查和增强其关于PD的知识。该数据库包含从576种出版物中提取并由生物医学研究人员手动检查的202个基因的2391个条目。每种遗传取代及其产生的影响均已明确标记,并与其主要参考文献相关联。每个报告的基因都有一个摘要页面,该页面提供有关变异影响,突变类型,研究群体,突变位置和参考文献的信息。另外,MDPD为用户提供了独特的功能,可以比较种族之间的突变类型差异。因此,我们希望MDPD将成为弥合基因分析与临床实践之间差距的宝贵工具。可通过http://datam.i2r.a-star.edu.sg/mdpd/公开访问MDPD。

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