United States of America

NIH Roadmap Epigenomics Program


The NIH Roadmap Epigenomics Program began in 2008.  Under the umbrella of this program, the NIH Common Fund and NIH Institutes and Centers have supported a total of 68 grants in the areas of epigenetic technology development, identification of novel epigenetic marks, reference epigenome mapping, and disease epigenomics investigations.  Details concerning the funded projects, resources,  protocols generated, and scientific publications (around 200 to date) can be found at https://commonfund.nih.gov/epigenomics/.

Mapping the human genome: A community resource

Epigenetic modifications are chemical modifications to the genome that play a role in development, aging, health, and disease, and are therefore targets for therapeutic interventions. The Reference Epigenomic Mapping Consortium, funded through the Common Fund’s Roadmap Epigenomics Program, is generating genome-wide epigenomic maps for a variety of cell and tissue types.   

The majority of the reference epigenomes generated will contain information on epigenetic modifications including a core set of histone marks, DNA methylation, chromatin accessibility, and gene expression information.  A subset of reference epigenomes will also contain an expanded set of at least twenty additional histone modifications.  For a description of the NIH Roadmap Epigenomics Program mapping efforts please refer to The NIH Roadmap Epigenomics Mapping Consortium.  Bernstein et al.  Nat Biotechnol, 2010. 28(10):1045-1048.

Data for 52 complete epigenomes and many partial datasets for a diversity of “normal” human cells and tissues are currently available http://www.roadmapepigenomics.org/.  Some of the cells and tissues mapped thus far include embryonic stem (ES) cells, ES-cell derivatives, induced pluripotent stem cells, multiple fetal tissues, several varieties of blood and immune cells, breast cell types, placenta, and solid tissues (e.g. adipose, gastrointestinal tract, skin, and brain).  There are plans to complete 50-100 additional epigenomes by the end of the program.  Assay protocols and recommended data standards are also available. 

Analysis of this data will help us predict functional genomic elements, understand cross-talk between epigenetic regulatory mechanisms, understand cellular programming and reprogramming, and provide baseline information to help human disease researchers. 

Additional mapping center discoveries or publications

Selected addtitional epigenomic program publications