Epigenomic annotation of genetic variants using the Roadmap Epigenome Browser

Advances in next-generation sequencing platforms have reshaped the landscape of functional genomic and epigenomic research as well as human genetics studies. Annotation of noncoding regions in the genome with genomic and epigenomic data has facilitated the generation of new, testable hypotheses regarding the functional consequences of genetic variants associated with human complex traits. Large consortia, such as the US National Institutes of Health (NIH) Roadmap Epigenomics Consortium and ENCODE, have generated tens of thousands of sequencing-based genome-wide data sets, creating a useful resource for the scientific community. The WashU Epigenome Browser continues to provide a platform for investigators to effectively engage with this resource in the context of analyzing their own data. Here, researchers from the Washington University School of Medicine describe the Roadmap Epigenome Browser, which is based on the WashU Epigenome Browser and integrates data from both the NIH Roadmap Epigenomics Consortium and ENCODE in a visualization and bioinformatics tool that enables researchers to explore the tissue-specific regulatory roles of genetic variants in the context of disease.

Availability – The Roadmap Epigenome Browser is avialble at: http://epigenomegateway.wustl.edu/browser/roadmap/