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Epigenetics, chromatin and genome organization: recent advances from the ENCODE project
Author(s) -
Siggens L.,
Ekwall K.
Publication year - 2014
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/joim.12231
Subject(s) - epigenome , encode , chromatin , enhancer , computational biology , genome , human genome , epigenetics , genetics , biology , pseudogene , epigenomics , histone , chia pet , transcription factor , dna methylation , gene , chromatin remodeling , gene expression
The organization of the genome into functional units, such as enhancers and active or repressed promoters, is associated with distinct patterns of DNA and histone modifications. The Encyclopedia of DNA Elements ( ENCODE ) project has advanced our understanding of the principles of genome, epigenome and chromatin organization, identifying hundreds of thousands of potential regulatory regions and transcription factor binding sites. Part of the ENCODE consortium, GENCODE , has annotated the human genome with novel transcripts including new noncoding RNA s and pseudogenes, highlighting transcriptional complexity. Many disease variants identified in genome‐wide association studies are located within putative enhancer regions defined by the ENCODE project. Understanding the principles of chromatin and epigenome organization will help to identify new disease mechanisms, biomarkers and drug targets, particularly as ongoing epigenome mapping projects generate data for primary human cell types that play important roles in disease.