Integrative analysis of 111 reference human epigenomes
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Author
Kundaje, Anshul
Meuleman, Wouter
Ernst, Jason
Bilenky, Misha
Yen, Angela
Kheradpour, Pouya
Zhang, Zhizhuo
Heravi-Moussavi, Alireza
Liu, Yaping
Amin, Viren
Whitaker, John W
Schultz, Matthew D
Sandstrom, Richard S
Eaton, Matthew L
Wu, Yi-Chieh
Wang, Jianrong
Ward, Lucas D
Sarkar, Abhishek
Quon, Gerald
Pfenning, Andreas
Wang, Xinchen
Claussnitzer, Melina
Coarfa, Cristian
Harris, R Alan
Shoresh, Noam
Epstein, Charles B
Gjoneska, Elizabeta
Leung, Danny
Xie, Wei
Hawkins, R David
Lister, Ryan
Hong, Chibo
Gascard, Philippe
Mungall, Andrew J
Moore, Richard
Chuah, Eric
Tam, Angela
Canfield, Theresa K
Hansen, R Scott
Kaul, Rajinder
Sabo, Peter J
Bansal, Mukul S
Carles, Annaick
Dixon, Jesse R
Farh, Kai-How
Feizi, Soheil
Karlic, Rosa
Kim, Ah-Ram
Kulkarni, Ashwinikumar
Li, Daofeng
Lowdon, Rebecca
Mercer, Tim R
Neph, Shane J
Onuchic, Vitor
Polak, Paz
Rajagopal, Nisha
Ray, Pradipta
Sallari, Richard C
Siebenthall, Kyle T
Sinnott-Armstrong, Nicholas
Stevens, Michael
Thurman, Robert E
Wu, Jie
Zhang, Bo
Zhou, Xin
Beaudet, Arthur E
Boyer, Laurie A
Farnham, Peggy J
Fisher, Susan J
Haussler, David
Jones, Steven
Li, Wei
Marra, Marco
McManus, Michael T
Thomson, James A
Tlsty, Thea D
Tsai, Li-Huei
Wang, Wei
Waterland, Robert A
Zhang, Michael
Chadwick, Lisa H
Costello, Joseph F
Ecker, Joseph R
Hirst, Martin
Meissner, Alexander
Milosavljevic, Aleksandar
Ren, Bing
Stamatoyannopoulos, John A
Wang, Ting
Kellis, Manolis
Note: Order does not necessarily reflect citation order of authors.
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https://doi.org/10.1038/nature14248Metadata
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Kundaje, A., W. Meuleman, J. Ernst, M. Bilenky, A. Yen, P. Kheradpour, Z. Zhang, et al. 2015. “Integrative analysis of 111 reference human epigenomes.” Nature 518 (7539): 317-330. doi:10.1038/nature14248. http://dx.doi.org/10.1038/nature14248.Abstract
The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but a similar reference has lacked for epigenomic studies. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection to-date of human epigenomes for primary cells and tissues. Here, we describe the integrative analysis of 111 reference human epigenomes generated as part of the program, profiled for histone modification patterns, DNA accessibility, DNA methylation, and RNA expression. We establish global maps of regulatory elements, define regulatory modules of coordinated activity, and their likely activators and repressors. We show that disease and trait-associated genetic variants are enriched in tissue-specific epigenomic marks, revealing biologically-relevant cell types for diverse human traits, and providing a resource for interpreting the molecular basis of human disease. Our results demonstrate the central role of epigenomic information for understanding gene regulation, cellular differentiation, and human disease.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530010/pdf/Terms of Use
This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAACitable link to this page
http://nrs.harvard.edu/urn-3:HUL.InstRepos:21458829
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