Integrative analysis of 111 reference human epigenomes

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Integrative analysis of 111 reference human epigenomes. / Won, Kyoung Jae; Roadmap Epigenomics Consortium.

I: Nature, Bind 518, Nr. 7539, 19.02.2015, s. 317-30.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Won, KJ & Roadmap Epigenomics Consortium 2015, 'Integrative analysis of 111 reference human epigenomes', Nature, bind 518, nr. 7539, s. 317-30. https://doi.org/10.1038/nature14248

APA

Won, K. J., & Roadmap Epigenomics Consortium (2015). Integrative analysis of 111 reference human epigenomes. Nature, 518(7539), 317-30. https://doi.org/10.1038/nature14248

Vancouver

Won KJ, Roadmap Epigenomics Consortium. Integrative analysis of 111 reference human epigenomes. Nature. 2015 feb. 19;518(7539):317-30. https://doi.org/10.1038/nature14248

Author

Won, Kyoung Jae ; Roadmap Epigenomics Consortium. / Integrative analysis of 111 reference human epigenomes. I: Nature. 2015 ; Bind 518, Nr. 7539. s. 317-30.

Bibtex

@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",

}

RIS

TY - JOUR

T1 - Integrative analysis of 111 reference human epigenomes

AU - Kundaje, Anshul

AU - Meuleman, Wouter

AU - Ernst, Jason

AU - Bilenky, Misha

AU - Yen, Angela

AU - Heravi-Moussavi, Alireza

AU - Kheradpour, Pouya

AU - Zhang, Zhizhuo

AU - Wang, Jianrong

AU - Ziller, Michael J

AU - Amin, Viren

AU - Whitaker, John W

AU - Schultz, Matthew D

AU - Ward, Lucas D

AU - Sarkar, Abhishek

AU - Quon, Gerald

AU - Sandstrom, Richard S

AU - Eaton, Matthew L

AU - Wu, Yi-Chieh

AU - Pfenning, Andreas R

AU - Wang, Xinchen

AU - Claussnitzer, Melina

AU - Liu, Yaping

AU - Coarfa, Cristian

AU - Harris, R Alan

AU - Shoresh, Noam

AU - Epstein, Charles B

AU - Gjoneska, Elizabeta

AU - Leung, Danny

AU - Xie, Wei

AU - Hawkins, R David

AU - Lister, Ryan

AU - Hong, Chibo

AU - Gascard, Philippe

AU - Mungall, Andrew J

AU - Moore, Richard

AU - Chuah, Eric

AU - Tam, Angela

AU - Canfield, Theresa K

AU - Hansen, R Scott

AU - Kaul, Rajinder

AU - Sabo, Peter J

AU - Bansal, Mukul S

AU - Carles, Annaick

AU - Dixon, Jesse R

AU - Farh, Kai-How

AU - Feizi, Soheil

AU - Karlic, Rosa

AU - Kim, Ah-Ram

AU - Zhou, Xin

AU - Won, Kyoung Jae

AU - Roadmap Epigenomics Consortium

PY - 2015/2/19

Y1 - 2015/2/19

N2 - 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.

AB - 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.

KW - Base Sequence

KW - Cell Lineage/genetics

KW - Cells, Cultured

KW - Chromatin/chemistry

KW - Chromosomes, Human/chemistry

KW - DNA/chemistry

KW - DNA Methylation

KW - Datasets as Topic

KW - Enhancer Elements, Genetic/genetics

KW - Epigenesis, Genetic/genetics

KW - Epigenomics

KW - Genetic Variation/genetics

KW - Genome, Human/genetics

KW - Genome-Wide Association Study

KW - Histones/metabolism

KW - Humans

KW - Organ Specificity/genetics

KW - RNA/genetics

KW - Reference Values

U2 - 10.1038/nature14248

DO - 10.1038/nature14248

M3 - Journal article

C2 - 25693563

VL - 518

SP - 317

EP - 330

JO - Nature

JF - Nature

SN - 0028-0836

IS - 7539

ER -

ID: 199330625