ENCODE: More genomic empowerment
- Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA
This extract was created in the absence of an abstract.
The completion of The ENCODE (Encyclopedia of DNA Elements) Pilot Project marks an important step forward in enriching the human genome sequence with functional information. The Human Genome Project (HGP) produced a sequence that was annotated for potential genes and other genomic features (Lander et al. 2001; Venter et al. 2001; The International Human Genome Sequencing Consortium 2004). This watershed advance was nevertheless only a first step in “whole-genome” approaches to progressing the understanding of human biology. Numerous other genomes that were subsequently sequenced sharpened the definition of key genomic components under evolutionary constraint: presumed functional elements such as protein-coding genes and regulatory regions. The International HapMap Project also probed the nature and structure of the variation of the human sequence, providing additional dimensionality (The International HapMap Consortium 2003, 2005). Now, the ambitious ENCODE project (The ENCODE Project Consortium 2004, 2007) adds to these by addressing many more types of sequence-based function than ever before, further connecting the genetic code to the mechanistic biochemical understanding of human biology.
The task of the ENCODE Project is formidable. The goal is to map a variety of sequence elements including genes, promoters, enhancers, repressor or silencer sequences, exons, replication origin and termination sites, transcription factor binding sites, methylation sites, DNase I hypersensitive sites, chromatin modifications, conserved sequences, and RNA transcripts, to name only those considered in the pilot project. Moreover, given the differences in the occupancy of binding sites or types of modifications in each tissue, during different developmental stages, and in response to environmental stimuli …
