Lajoie, Bryan R.
Whitfield, Troy W.
ENCODE Project Consortium
*Encyclopedias as Topic
Genetic Predisposition to Disease
Genome-Wide Association Study
*Molecular Sequence Annotation
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Regulatory Sequences, Nucleic Acid
Sequence Analysis, RNA
Genetics and Genomics
MetadataShow full item record
AbstractThe 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.
SourceNature. 2012 Sep 6;489(7414):57-74. doi: 10.1038/nature11247. Link to article on publisher's site
Permanent Link to this Itemhttp://hdl.handle.net/20.500.14038/49900
Full author list omitted for brevity. For the full list of authors, see article. UMMS authors listed are participants in the ENCODE Project Consortium.
Related ResourcesLink to Article in PubMed
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/.
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