CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.
Genomics Proteomics Bioinformatics. 2013 Jun;11(3):135-41. doi: 10.1016/j.gpb.2013.05.001. Epub 2013 May 28.
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.
ENCyclopedia Of DNA Elements (ENCODE) 项目是一个国际研究联盟,旨在鉴定人类基因组序列中的所有功能元件。该项目的第二阶段包含了来自 147 种不同细胞类型的 1640 个数据集,产生了横跨几个期刊的 30 篇出版物。这些数据表明,人类基因组的 80.4%在至少一种细胞类型中显示出某种功能。这些调控元件中的许多彼此物理关联,并进一步形成网络或三维构象,以影响基因表达。这些元件也与与疾病或特征相关的序列变体有关。所有这些发现为我们深入了解基因和基因组的组织和调控提供了新的见解,并成为理解人类健康和疾病的广泛资源。