Encyclopedia of DNA elements of human genome

Abstract

The Encyclopedia of DNA Elements (ENCODE) project is an international collaboration of research groups funded by the National Human Genome Research Institute (NHGRI), with the goal of delineating all functional elements encoded in the human genome. This project began in 2003 with a targeted analysis of a selected 1% of the human genome in order to testify the methods. The second phase of funding was then provided to scale the project to the entire human genome. This project has identified a large number of new DNA regulatory elements, based on novel relationships among DNA methylation, histone modification, nucleosome remodeling, and RNA-mediated targeting regulate many biological processes. The results of the second project comprised 1640 data sets, from 147 different cell types and the findings were released in a coordinated set of 30 publications across several journals. The ENCODE publications report that 80.4% of the human genome displays some functionality. The project gives us new insights into the organization and regulation of the human genome and epigenome, which significantly enhances our understanding of human health and diseases. Key words: ENCODE; Human genome; DNA methylation; Histone modification; Next generation sequencing