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WikiGWA:一个用于收集和使用全基因组关联研究结果的开放平台。

WikiGWA: an open platform for collecting and using genome-wide association results.

机构信息

Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

出版信息

Eur J Hum Genet. 2013 Apr;21(4):471-3. doi: 10.1038/ejhg.2012.187. Epub 2012 Aug 29.

DOI:10.1038/ejhg.2012.187
PMID:22929026
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3598322/
Abstract

The number of discovered genetic variants from genome-wide association (GWA) studies (GWAS) has been growing rapidly. Centralized efforts such as the National Human Genome Research Institute's GWAS catalog provide regular updates and a convenient interface for quick lookup. However, the catalog entries are manually curated and rely on data from published articles. Other tools such as SNPedia (http://www.snpedia.com) collect published results regarding functional consequences of genetic variations. Here, we propose an approach that allows individual investigators to share their GWA results through an open platform. Unlike GWAS catalog or SNPedia, wikiGWA collects first-hand GWAS results and in a much larger scale. Investigators are not only able to post a much larger amount of results, but also post results from unpublished studies, which could alleviate publication bias and facilitate identification of weak signals. Our interface allows for flexible and fast queries, and the query results are formatted to work seamlessly with the LocusZoom program for visualization and annotation. We here describe wikiGWA, made publically available at http://www.wikiGWA.org.

摘要

从全基因组关联 (GWA) 研究中发现的遗传变异数量一直在迅速增加。集中的努力,如国立人类基因组研究所的 GWA 目录,提供了定期更新和方便的界面,以便快速查询。然而,目录条目是手动整理的,并且依赖于已发表文章的数据。其他工具,如 SNPedia(http://www.snpedia.com),收集有关遗传变异功能后果的已发表结果。在这里,我们提出了一种方法,允许个别研究人员通过开放平台分享他们的 GWA 结果。与 GWA 目录或 SNPedia 不同,wikiGWA 收集第一手的 GWA 结果,并在更大的规模上进行收集。研究人员不仅能够发布更多的结果,还能够发布未发表研究的结果,这可以减轻发表偏倚并有助于识别弱信号。我们的界面允许灵活快速的查询,并且查询结果格式与 LocusZoom 程序无缝配合,用于可视化和注释。我们在这里描述了 wikiGWA,它在 http://www.wikiGWA.org 上公开提供。

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PRIMe: a method for characterization and evaluation of pleiotropic regions from multiple genome-wide association studies.PRIMe:一种从多个全基因组关联研究中进行多效区域特征描述和评估的方法。
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