An integrated encyclopedia of DNA elements in the human genome

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• dc.contributor.author ENCODE Project Consortiumca
• dc.contributor.author Dunham, Ianca
• dc.contributor.author Guigó Serra, Rodericca
• dc.contributor.author Birney, Ewanca
• dc.date.accessioned 2015-01-27T08:29:23Z
• dc.date.available 2015-01-27T08:29:23Z
• dc.date.issued 2012ca
• dc.description.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.
• dc.description.sponsorship The Consortium is funded by grants from the NHGRI as follows: production grants: U54HG004570 (B. E. Bernstein); U01HG004695 (E. Birney); U54HG004563 (G. E. Crawford); U54HG004557 (T. R. Gingeras); U54HG004555 (T. J. Hubbard); U41HG004568 /n(W. J. Kent); U54HG004576 (R. M. Myers); U54HG004558 (M. Snyder);/nU54HG004592 (J. A. Stamatoyannopoulos). Pilot grants: R01HG003143 (J. Dekker); RC2HG005591 and R01HG003700 (M. C. Giddings); R01HG004456-03 (Y. Ruan); U01HG004571 (S. A. Tenenbaum); U01HG004561 (Z. Weng); RC2HG005679 (K. P. White). This project was supported in part by American Recovery and/nReinvestment Act (ARRA) funds from the NHGRI through grants U54HG004570, U54HG004563, U41HG004568, U54HG004592, R01HG003143, RC2HG005591,R01HG003541, U01HG004561, RC2HG005679andR01HG003988(L. Pennacchio). In addition, work from NHGRI Groups was supported by the Intramural Research/nProgram of the NHGRI (L. Elnitski, ZIAHG200323; E. H. Margulies, ZIAHG200341). Research in the Pennachio laboratory was performed at Lawrence Berkeley National Laboratory and at the United States Department of Energy Joint Genome Institute, Department of Energy Contract DE-AC02-05CH11231, University of California.
• dc.format.mimetype application/pdfca
• dc.identifier.citation ENCODE Project Consortium, Bernstein BE, Birney E, Dunham I, Green ED, Gunter C et al. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489(7414):57-74. DOI: 10.1038/nature11247ca
• dc.identifier.doi http://dx.doi.org/10.1038/nature11247
• dc.identifier.issn 0028-0836ca
• dc.identifier.uri http://hdl.handle.net/10230/23072
• dc.language.iso engca
• dc.publisher Nature Publishing Groupca
• dc.relation.ispartof Nature. 2012;489(7414):57-74
• dc.rights This article is distributed under the terms of the Creative Commons Attribution-Non-Commercial-Share Alike licence http://dx.doi.org/10.1038/nature11247.ca
• dc.rights.accessRights info:eu-repo/semantics/openAccessca
• dc.rights.uri http://creativecommons.org/licenses/by-nc-sa/3.0/
• dc.subject.other Genètica
• dc.subject.other Genòmica
• dc.subject.other Genoma humà
• dc.title An integrated encyclopedia of DNA elements in the human genomeca
• dc.type info:eu-repo/semantics/articleca
• dc.type.version info:eu-repo/semantics/publishedVersionca