An integrated encyclopedia of DNA elements in the human genome
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Kellis_An integrated.pdf
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4.83 MB
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Checksum (MD5)
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Author(s)
Altshuler, Robert Charles
Ernst, Jason
Kellis, Manolis
Kheradpour, Pouya
Ward, Lucas D.
Eaton, Matthew Lucas
Hendrix, David A.
Jungreis, Irwin
Lin, Michael F.
Washietl, Stefan
Date Issued
September 2012
Journal
Nature
Publisher
Nature Publishing Group
Citation
Dunham, Ian, Anshul Kundaje, Shelley F. Aldred, Patrick J. Collins, Carrie A. Davis, Francis Doyle, Charles B. Epstein, et al. “An Integrated Encyclopedia of DNA Elements in the Human Genome.” Nature 489, no. 7414 (September 5, 2012): 57–74.
Version
Author's final manuscript
Abstract
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.
MIT Department
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
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Creative Commons Attribution-Noncommercial-Share Alike
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DOI of Published Version
https://doi.org/10.1038/nature11247
