Epigenomics involves the genome-scale study of DNA and the protein scaffold that supports it (collectively known as “chromatin”). Structural modifications to this scaffold as well as to the DNA backbone itself can play crucial roles in determining if and when genes become active, thus exerting important biological effects. The Epigenomics Initiative at the Broad Institute aims to transform our understanding of the human epigenome by providing a comprehensive characterization of chromatin and its modifications in human health and disease.

Initiative researchers will apply an enhanced chromatin-mapping method, which takes advantage of next-generation DNA sequencing technologies, to determine the locations of chromatin modifications and key chromatin regulators throughout the genome. This “ChIP-Seq” method is highly accurate and offers major improvements in cost, input requirements, and genome coverage relative to other methods. Scientists will also develop and apply novel approaches to infer sites of DNA methylation at nucleotide-level resolution using a technique known as high-throughput bisulfite sequencing (HTBS).

By applying these methods to diverse human and mouse cell lines, embryonic stem cells, differentiated cells and tissues, as well as human cancers, researchers hope to gain an integrated and comprehensive view of the epigenome. The Epigenomics Initiative is supported by funds from the National Institutes of Health, including an NHGRI ENCODE grant, and the Starr Cancer Consortium.