Roadmap Epigenomics Consortium

Abstract Somatic mutations are the driving force of cancer genome evolution1. The rate of somatic mutations appears to be greatly variable across the genome due to variations in chromatin organization, DNA accessibility and replication timing2,3,4,5. However, other variables that may influence the mutation rate locally are unknown, such as a role for DNA-binding proteins, for example.

The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection so far of human epigenomes for primary cells and tissues.