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Genomics Proteomics Bioinformatics. 2013 Jun;11(3):135-41. doi: 10.1016/j.gpb.2013.05.001. Epub 2013 May 28.

A brief review on the Human Encyclopedia of DNA Elements (ENCODE) project.

Author information

1
CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.

Abstract

The ENCyclopedia Of DNA Elements (ENCODE) project is an international research consortium that aims to identify all functional elements in the human genome sequence. The second phase of the project comprised 1640 datasets from 147 different cell types, yielding a set of 30 publications across several journals. These data revealed that 80.4% of the human genome displays some functionality in at least one cell type. Many of these regulatory elements are physically associated with one another and further form a network or three-dimensional conformation to affect gene expression. These elements are also related to sequence variants associated with diseases or traits. All these findings provide us new insights into the organization and regulation of genes and genome, and serve as an expansive resource for understanding human health and disease.

PMID:
23722115
PMCID:
PMC4357814
DOI:
10.1016/j.gpb.2013.05.001
[Indexed for MEDLINE]
Free PMC Article

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