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通过SNPedia与基因维基的融合将基因与疾病关联起来。

Linking genes to diseases with a SNPedia-Gene Wiki mashup.

作者信息

Good Benjamin M, Clarke Erik L, Loguercio Salvatore, Su Andrew I

机构信息

The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.

出版信息

J Biomed Semantics. 2012 Apr 24;3 Suppl 1(Suppl 1):S6. doi: 10.1186/2041-1480-3-S1-S6.

Abstract

BACKGROUND

A variety of topic-focused wikis are used in the biomedical sciences to enable the mass-collaborative synthesis and distribution of diverse bodies of knowledge. To address complex problems such as defining the relationships between genes and disease, it is important to bring the knowledge from many different domains together. Here we show how advances in wiki technology and natural language processing can be used to automatically assemble 'meta-wikis' that present integrated views over the data collaboratively created in multiple source wikis.

RESULTS

We produced a semantic meta-wiki called the Gene Wiki+ that automatically mirrors and integrates data from the Gene Wiki and SNPedia. The Gene Wiki+, available at (http://genewikiplus.org/), captures 8,047 distinct gene-disease relationships. SNPedia accounts for 4,149 of the gene-disease pairs, the Gene Wiki provides 4,377 and only 479 appear independently in both sources. All of this content is available to query and browse and is provided as linked open data.

CONCLUSIONS

Wikis contain increasing amounts of diverse, biological information useful for elucidating the connections between genes and disease. The Gene Wiki+ shows how wiki technology can be used in concert with natural language processing to provide integrated views over diverse underlying data sources.

摘要

背景

生物医学领域使用了各种主题聚焦的维基来实现知识的大规模协作综合与传播。为解决诸如定义基因与疾病之间关系等复杂问题,整合来自多个不同领域的知识很重要。在此,我们展示了维基技术和自然语言处理的进展如何用于自动组装“元维基”,这些元维基能呈现对在多个源维基中协作创建的数据的综合视图。

结果

我们制作了一个名为基因维基+的语义元维基,它能自动镜像并整合来自基因维基和SNPedia的数据。基因维基+可在(http://genewikiplus.org/)获取,收录了8047种不同的基因-疾病关系。SNPedia涵盖了4149对基因-疾病关系,基因维基提供了4377对,只有479对在两个来源中都独立出现。所有这些内容都可供查询和浏览,并作为关联开放数据提供。

结论

维基包含了越来越多对阐明基因与疾病之间联系有用的多样生物信息。基因维基+展示了维基技术如何与自然语言处理协同使用,以提供对不同基础数据源的综合视图。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f016/3337266/c96ffcce68c9/2041-1480-3-S1-S6-1.jpg

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