WikiGWA: an open platform for collecting and using genome-wide association results
WikiGWA: an open platform for collecting and using genome-wide association results
复制标题
DOI：
10.1038/ejhg.2012.187
复制
发表时间：
2013-04-01
影响因子：
5.2
通讯作者：
Li, Yun
中科院分区：
文献类型：
--
作者：
Huang, Jie;Liu, Eric Y.;Li, Yun
从全基因组关联（GWA）研究（GWAS）中发现的遗传变异的数量一直在迅速增长。集中的努力，如国家人类基因组研究所的GWAS目录提供定期更新和方便的界面，快速查找。但是，目录条目是手动管理的，并且依赖于已发布文章的数据。其他工具如SNPedia（http：www.snpedia.com）收集关于遗传变异的功能后果的已发表结果。在这里，我们提出了一种方法，允许个人调查人员通过一个开放的平台分享他们的GWA结果。与GWAS目录或SNPedia不同，wikiGWA收集第一手GWAS结果，并且规模更大。研究人员不仅能够发布大量的结果，而且还可以发布未发表的研究结果，这可以减轻发表偏倚并促进弱信号的识别。我们的界面允许灵活和快速的查询，查询结果的格式与轨迹缩放程序无缝地工作，可视化和注释。我们在此描述wikiGWA，可在http://www.wikiGWA.org上免费获得。European Journal of Human Genetics（2013）21，471-473; doi：10.1038/ejhg.2012.187; 2012年8月29日在线发表
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 Investigators are not only able to post a much larger amount of results, but also post results from unpublished studies, which could alleviate publication bias and facilitate identification of weak signals.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 Locus Zoom program for visualization and annotation. We here describe wikiGWA, made publically available at http://www.wikiGWA.org. European Journal of Human Genetics (2013) 21, 471-473; doi:10.1038/ejhg.2012.187; published online 29 August 2012