A User's Guide to the Encyclopedia of DNA Elements (ENCODE)

TLDR

The ENCODE Project aims to enable scientists and clinicians to interpret the human genome to advance biology and improve health, and this paper provides an overview of its resources and applications. ENCODE integrates diverse technologies, establishes quality standards, develops algorithms, and makes data and results freely available in a database.

Abstract

The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the scientific and medical communities to interpret the human genome sequence and apply it to understand human biology and improve health. The ENCODE Consortium is integrating multiple technologies and approaches in a collective effort to discover and define the functional elements encoded in the human genome, including genes, transcripts, and transcriptional regulatory regions, together with their attendant chromatin states and DNA methylation patterns. In the process, standards to ensure high-quality data have been implemented, and novel algorithms have been developed to facilitate analysis. Data and derived results are made available through a freely accessible database. Here we provide an overview of the project and the resources it is generating and illustrate the application of ENCODE data to interpret the human genome.