lunes, 23 de febrero de 2015

Epigenomic annotation of genetic variants using the Roadmap Epigenome Browser : Nature Biotechnology : Nature Publishing Group

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Epigenomic annotation of genetic variants using the Roadmap Epigenome Browser : Nature Biotechnology : Nature Publishing Group




Epigenomic annotation of genetic variants using the Roadmap Epigenome Browser

Nature Biotechnology
 
 
doi:10.1038/nbt.3158
Published online
 
To the Editor
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 traits12. Large consortia, such as the US National Institutes of Health (NIH) Roadmap Epigenomics Consortium3 and ENCODE4, have generated tens of thousands of sequencing-based genome-wide data sets, creating a useful resource for the scientific community5. The WashU Epigenome Browser678 continues to provide a platform for investigators to effectively engage with this resource in the context of analyzing their own data. Here, we describe the Roadmap Epigenome Browser (http://epigenomegateway.wustl.edu/browser/roadmap/), 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.

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