Integrative analysis of 111 reference human epigenomes
| Autor: | Daofeng Li, Tim R. Mercer, Wei Li, Lisa Helbling Chadwick, Jesse R. Dixon, Pouya Kheradpour, Joseph F. Costello, Pradipta R. Ray, John W. Whitaker, Peggy J. Farnham, Angela Tam, Vitor Onuchic, Robert A. Waterland, Misha Bilenky, James A. Thomson, Zhizhuo Zhang, Yaping Liu, Gerald Quon, Andrew J. Mungall, Steven J.M. Jones, Bradley E. Bernstein, Alexander Meissner, Melina Claussnitzer, Charles B. Epstein, Andreas R. Pfenning, Li-Huei Tsai, Laurie A. Boyer, Angela Yen, Ting Wang, Rajinder Kaul, Alireza Heravi-Moussavi, Danny Leung, Noam Shoresh, Michael T. McManus, Michael Stevens, John A. Stamatoyannopoulos, Mukul S. Bansal, Thea D. Tlsty, Susan J. Fisher, Manolis Kellis, Michael Q. Zhang, Aleksandar Milosavljevic, Viren Amin, Martin Hirst, Matthew D. Schultz, Joseph R. Ecker, Xinchen Wang, Jie Wu, Marco A. Marra, Kyle Siebenthall, Wei Wang, Ashwinikumar Kulkarni, Peter J. Sabo, R. Scott Hansen, Jianrong Wang, Michael J. Ziller, Richard A. Moore, Shane Neph, Richard C Sallari, Robert E. Thurman, Paz Polak, Wei Xie, Eric Chuah, Jason Ernst, Bing Ren, Nisha Rajagopal, Anshul Kundaje, Xin Zhou, Yi-Chieh Wu, Shamil R. Sunyaev, Ginell Elliott, Philippe Gascard, Soheil Feizi, Chibo Hong, R. Alan Harris, Ah Ram Kim, Philip L. De Jager, Rosa Karlic, R. David Hawkins, Matthew L. Eaton, Ryan Lister, Rebecca F. Lowdon, Annaick Carles, Elizabeta Gjoneska, David Haussler, Abhishek Sarkar, Nicholas A Sinnott-Armstrong, Wouter Meuleman, Lucas D. Ward, Kai How Farh, Richard Sandstrom, Arthur E. Beaudet, Theresa K. Canfield, Cristian Coarfa, Bo Zhang |
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| Přispěvatelé: | Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology. Department of Biology, Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science, Picower Institute for Learning and Memory, Kundaje, Anshul, Meuleman, Wouter, Ernst, Jason, Yen, Angela, Kheradpour, Pouya, Zhang, Zhizhuo, Wang, Jianrong, Ward, Lucas D., Sarkar, Abhishek Kulshreshtha, Quon, Gerald, Eaton, Matthew Lucas, Wu, Yi-Chieh, Pfenning, Andreas R., Wang, Xinchen, Claussnitzer, Melina, Liu, Yaping, Bansal, Mukul S., Feizi-Khankandi, Soheil, Kim, Ah Ram, Cowper Sal-lari, Richard, Sinnott-Armstrong, Nicholas A., Kellis, Manolis, Boyer, Laurie, Gjoneska, Elizabeta, Tsai, Li-Huei |
| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
Epigenomics
Datasets as Topic ATAC-seq Computational biology Biology Article Epigenesis Genetic Histones Reference Values Computational epigenetics Chromosomes Human Humans Cell Lineage Epigenetics Cells Cultured Genetics Regulation of gene expression Multidisciplinary Base Sequence Genome Human Genetic Variation DNA Epigenome DNA Methylation Chromatin Human genetics Enhancer Elements Genetic Organ Specificity RNA Human genome chromatin histone epigenome tissue specificity Genome-Wide Association Study |
| Zdroj: | PMC Nature |
| Popis: | The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection so far of human epigenomes for primary cells and tissues. Here we describe the integrative analysis of 111 reference human epigenomes generated as part of the programme, 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. National Human Genome Research Institute (U.S.) (RC1HG005334) National Human Genome Research Institute (U.S.) (R01HG004037) National Human Genome Research Institute (U.S.) (R01HG004037-S1) National Human Genome Research Institute (U.S.) (RO1NS078839) National Science Foundation (U.S.) (CAREER Award 1254200) |
| Databáze: | OpenAIRE |
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