HiView: an integrative genome browser to leverage Hi-C results for the interpretation of GWAS variants
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- 作者：Zheng Xu ; Guosheng Zhang ; Qing Duan ; Shengjie Chai ; Baqun Zhang…
- 关键词：Integrative genome browser ; Hi ; C data ; GWAS variants
- 刊名：BMC Research Notes
- 出版年：2016
- 出版时间：December 2016
- 年：2016
- 卷：9
- 期：1
- 全文大小：1,142 KB
- 刊物主题：Biomedicine general; Medicine/Public Health, general; Life Sciences, general;
- 出版者：BioMed Central
- ISSN：1756-0500
文摘
Background 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.