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Epigenomic annotation of genetic variants using the Roadmap Epigenome Browser.
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We have created the Roadmap EpiGenome Browser (http://epigenomegateway.wustl.edu/browser/roadmap), a Genome Browser based on the WashU EpiGenome Browser. The Roadmap EpiGenome Browser is a visualization and bioinformatics tool to explore the tissue-specific regulatory roles of genetic variants associated with diseases. The Browser takes advantage of over ten thousand epigenomic datasets we currently host, including 346 "complete epigenomes", defined as tissues/cell types for which we have collected a complete set of DNA methylation, histone modification, open chromatin, and other genomic datasets9. The Browser seamlessly integrates the NIH Roadmap Epigenomics and ENCODE resources using a new “Data Hub Cluster” framework (Supplementary Notes, Supplementary Fig. 1,2). Investigators can specify any number of SNP-associated regions and any type of epigenomic data, for which the Browser automatically creates “virtual data hubs” through a shared hierarchical metadata annotation, retrieves the data, and performs real-time clustering analysis. Investigators interact with the Browser to determine the tissue specificity of the epigenetic state encompassing genetic variants in physiologically or pathogenically relevant cell types from normal or diseased samples (Supplementary Notes, Tutorial 1, Supplementary Fig. 3,4).