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Integrative analysis of 111 reference human epigenomes
Nature (London), 2015-02, Vol.518 (7539), p.317-330
2015

Details

Autor(en) / Beteiligte
Titel
Integrative analysis of 111 reference human epigenomes
Ist Teil von
  • Nature (London), 2015-02, Vol.518 (7539), p.317-330
Ort / Verlag
England: Nature Publishing Group
Erscheinungsjahr
2015
Link zum Volltext
Quelle
EBSCOhost Psychology and Behavioral Sciences Collection
Beschreibungen/Notizen
  • 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.
Sprache
Englisch
Identifikatoren
ISSN: 0028-0836
eISSN: 1476-4687
DOI: 10.1038/nature14248
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4530010
Format
–
Schlagworte
Base Sequence, Cell Lineage - genetics, Cells, Cultured, Chromatin - chemistry, Chromatin - genetics, Chromatin - metabolism, Chromosomes, Human - chemistry, Chromosomes, Human - genetics, Chromosomes, Human - metabolism, Datasets as Topic, Deoxyribonucleic acid, DNA, DNA - chemistry, DNA - genetics, DNA - metabolism, DNA Methylation, Enhancer Elements, Genetic - genetics, Enzymes, Epigenesis, Genetic - genetics, Epigenetic inheritance, Epigenomics, Gene expression, Genetic research, Genetic Variation - genetics, Genome, Human - genetics, Genome-Wide Association Study, Genomes, Genomics, Histones - metabolism, Human genome, Humans, Organ Specificity - genetics, Reference Values, RNA - genetics

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