An integrated encyclopedia of DNA elements in the human genome
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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | en_US |
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Nature Publishing Group
2014
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| Online Access: | http://hdl.handle.net/1721.1/87013 https://orcid.org/0000-0001-5096-1932 https://orcid.org/0000-0002-8305-9125 https://orcid.org/0000-0002-8017-809X |
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| author | 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 |
| author2 | Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory |
| author_facet | Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory 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 |
| author_sort | Altshuler, Robert Charles |
| collection | MIT |
| description | 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. |
| first_indexed | 2024-09-23T16:51:33Z |
| format | Article |
| id | mit-1721.1/87013 |
| institution | Massachusetts Institute of Technology |
| language | en_US |
| last_indexed | 2024-09-23T16:51:33Z |
| publishDate | 2014 |
| publisher | Nature Publishing Group |
| record_format | dspace |
| spelling | mit-1721.1/870132022-10-03T08:44:58Z An integrated encyclopedia of DNA elements in the human genome 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 Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science 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 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. 2014-05-15T19:00:46Z 2014-05-15T19:00:46Z 2012-09 2011-11 Article http://purl.org/eprint/type/JournalArticle 0028-0836 1476-4687 http://hdl.handle.net/1721.1/87013 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. https://orcid.org/0000-0001-5096-1932 https://orcid.org/0000-0002-8305-9125 https://orcid.org/0000-0002-8017-809X en_US http://dx.doi.org/10.1038/nature11247 Nature Creative Commons Attribution-Noncommercial-Share Alike http://creativecommons.org/licenses/by-nc-sa/4.0/ application/pdf Nature Publishing Group PMC |
| spellingShingle | 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 An integrated encyclopedia of DNA elements in the human genome |
| title | An integrated encyclopedia of DNA elements in the human genome |
| title_full | An integrated encyclopedia of DNA elements in the human genome |
| title_fullStr | An integrated encyclopedia of DNA elements in the human genome |
| title_full_unstemmed | An integrated encyclopedia of DNA elements in the human genome |
| title_short | An integrated encyclopedia of DNA elements in the human genome |
| title_sort | integrated encyclopedia of dna elements in the human genome |
| url | http://hdl.handle.net/1721.1/87013 https://orcid.org/0000-0001-5096-1932 https://orcid.org/0000-0002-8305-9125 https://orcid.org/0000-0002-8017-809X |
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