HiView: an integrative genome browser to leverage Hi-C results for the interpretation of GWAS variants.
HiView: an integrative genome browser to leverage Hi-C results for the interpretation of GWAS variants.
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DOI：
10.1186/s13104-016-1947-0
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发表时间：
2016-03-11
影响因子：
1.8
通讯作者：
Hu M
中科院分区：
文献类型：
--
作者：
Xu Z;Zhang G;Duan Q;Chai S;Zhang B;Wu C;Jin F;Yue F;Li Y;Hu M
全基因组关联研究（GWAS）已经确定了数千种与复杂性状和疾病相关的遗传变异。然而，它们中的大多数位于非蛋白质编码区，因此假设这些非编码GWAS变体的功能具有挑战性。最近的大型努力，如ENCODE和路线图表观基因组学项目预测了大量的监管要素。然而，这些调控元件的靶基因在很大程度上仍然未知。基于染色质构象捕获的技术如Hi-C可以直接测量染色质相互作用，并且已经产生了远端调控元件与其潜在靶基因之间的相互作用组的越来越全面的目录。利用Hi-C揭示的这些信息，有望阐明人类疾病中遗传变异的功能。在这项工作中，我们提出了HiView，这是第一个利用Hi-C结果解释GWAS变体的综合基因组浏览器。HiView能够显示任何给定GWAS变体周围基因组区域中染色质相互作用的Hi-C数据和统计证据，从而实现直观的可视化和解释。我们相信，作为第一个以GWAS变体为中心的Hi-C基因组浏览器，HiView是指导后GWAS功能基因组学研究的有用工具。HiView可在http://www.unc.edu/~yunmli/HiView免费访问。本文的在线版本（doi：10.1186/s13104-016-1947-0）包含补充材料，可供授权用户使用。
Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with complex traits and diseases. However, most of them are located in the non-protein coding regions, and therefore it is challenging to hypothesize the functions of these non-coding GWAS variants. Recent large efforts such as the ENCODE and Roadmap Epigenomics projects have predicted a large number of regulatory elements. However, the target genes of these regulatory elements remain largely unknown. Chromatin conformation capture based technologies such as Hi-C can directly measure the chromatin interactions and have generated an increasingly comprehensive catalog of the interactome between the distal regulatory elements and their potential target genes. Leveraging such information revealed by Hi-C holds the promise of elucidating the functions of genetic variants in human diseases. In this work, we present HiView, the first integrative genome browser to leverage Hi-C results for the interpretation of GWAS variants. HiView is able to display Hi-C data and statistical evidence for chromatin interactions in genomic regions surrounding any given GWAS variant, enabling straightforward visualization and interpretation. We believe that as the first GWAS variants-centered Hi-C genome browser, HiView is a useful tool guiding post-GWAS functional genomics studies. HiView is freely accessible at: http://www.unc.edu/~yunmli/HiView. The online version of this article (doi:10.1186/s13104-016-1947-0) contains supplementary material, which is available to authorized users.