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An integrated encyclopedia of DNA elements in the human genome
Document Type
Journal ArticlePublication Date
2012-09-06Keywords
AllelesAnimals
Binding Sites
Chromatin
Chromatin Immunoprecipitation
Chromosomes, Human
DNA
DNA Footprinting
DNA Methylation
DNA-Binding ProteinsDeoxyribonuclease I*Encyclopedias as TopicExonsGenetic Predisposition to DiseaseGenetic VariationGenome, HumanGenome-Wide Association Study*GenomicsHistonesHumansMammals*Molecular Sequence AnnotationNeoplasmsPolymorphism, Single NucleotidePromoter Regions, GeneticProteinsRegulatory Sequences, Nucleic AcidSequence Analysis, RNATranscription FactorsTranscription, GeneticBioinformaticsGenetics and GenomicsSystems Biology
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Show full item recordAbstract
The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription factor association, chromatin structure and histone modification. These data enabled us to assign biochemical functions for 80% of the genome, in particular outside of the well-studied protein-coding regions. Many discovered candidate regulatory elements are physically associated with one another and with expressed genes, providing new insights into the mechanisms of gene regulation. The newly identified elements also show a statistical correspondence to sequence variants linked to human disease, and can thereby guide interpretation of this variation. Overall, the project provides new insights into the organization and regulation of our genes and genome, and is an expansive resource of functional annotations for biomedical research.Source
Nature. 2012 Sep 6;489(7414):57-74. doi: 10.1038/nature11247. Link to article on publisher's siteDOI
10.1038/nature11247Permanent Link to this Item
http://hdl.handle.net/20.500.14038/49900PubMed ID
22955616Notes
Full author list omitted for brevity. For the full list of authors, see article. UMMS authors listed are participants in the ENCODE Project Consortium.
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Link to Article in PubMedRights
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/.
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