@article{5755f33514a142d69dae32fc2599748a,
title = "Integrative analysis of 111 reference human epigenomes",
abstract = "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. ",
keywords = "Base Sequence, Cell Lineage/genetics, Cells, Cultured, Chromatin/chemistry, Chromosomes, Human/chemistry, DNA/chemistry, DNA Methylation, Datasets as Topic, Enhancer Elements, Genetic/genetics, Epigenesis, Genetic/genetics, Epigenomics, Genetic Variation/genetics, Genome, Human/genetics, Genome-Wide Association Study, Histones/metabolism, Humans, Organ Specificity/genetics, RNA/genetics, Reference Values",
author = "Anshul Kundaje and Wouter Meuleman and Jason Ernst and Misha Bilenky and Angela Yen and Alireza Heravi-Moussavi and Pouya Kheradpour and Zhizhuo Zhang and Jianrong Wang and Ziller, {Michael J} and Viren Amin and Whitaker, {John W} and Schultz, {Matthew D} and Ward, {Lucas D} and Abhishek Sarkar and Gerald Quon and Sandstrom, {Richard S} and Eaton, {Matthew L} and Yi-Chieh Wu and Pfenning, {Andreas R} and Xinchen Wang and Melina Claussnitzer and Yaping Liu and Cristian Coarfa and Harris, {R Alan} and Noam Shoresh and Epstein, {Charles B} and Elizabeta Gjoneska and Danny Leung and Wei Xie and Hawkins, {R David} and Ryan Lister and Chibo Hong and Philippe Gascard and Mungall, {Andrew J} and Richard Moore and Eric Chuah and Angela Tam and Canfield, {Theresa K} and Hansen, {R Scott} and Rajinder Kaul and Sabo, {Peter J} and Bansal, {Mukul S} and Annaick Carles and Dixon, {Jesse R} and Kai-How Farh and Soheil Feizi and Rosa Karlic and Ah-Ram Kim and Xin Zhou and Won, {Kyoung Jae} and {Roadmap Epigenomics Consortium}",
year = "2015",
month = feb,
day = "19",
doi = "10.1038/nature14248",
language = "English",
volume = "518",
pages = "317--30",
journal = "Nature",
issn = "0028-0836",
publisher = "nature publishing group",
number = "7539",
}
