The
human genome encodes the blueprint of life, but the function of the vast
majority of its nearly three billion bases is unknown. The Encyclopedia of DNA
Elements (ENCODE) project has systematically mapped regions of transcription,
transcription factor association, chromatin structure and histone modification.
These data enabled us to assign biochemical functions for 80% of the genome, in
particular outside of the well-studied protein-coding regions. Many discovered
candidate regulatory elements are physically associated with one another and
with expressed genes, providing new insights into the mechanisms of gene
regulation. The newly identified elements also show a statistical
correspondence to sequence variants linked to human disease, and can thereby
guide interpretation of this variation. Overall, the project provides new
insights into the organization and regulation of our genes and genome, and is
an expansive resource of functional annotations for biomedical research.
Source: An integrated encyclopedia of
DNA elements in the human genome. ENCODE Project Consortium, Bernstein BE,
Birney E, Dunham I, Green ED, Gunter C, Snyder M and 594 collaborators. Nature.
2012 Sep 6;489(7414):57-74.
Free paper available at:
Related papers:
The accessible
chromatin landscape of the human genome.
An expansive human
regulatory lexicon encoded in transcription factor footprints.
Architecture of the
human regulatory network derived from ENCODE data.
Landscape of
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The long-range
interaction landscape of gene promoters.
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