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Title

An integrated encyclopedia of DNA elements in the human genome

CollaborationWith : Antonarakis, Stylianos
Published in Nature. 2012, vol. 489, no. 7414, p. 57-74
Abstract 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.
Keywords AllelesAnimalsBinding Sites/geneticsChromatin/genetics/metabolismChromatin ImmunoprecipitationChromosomes, Human/genetics/metabolismDNA/geneticsDNA FootprintingDNA Methylation/geneticsDNA-Binding Proteins/metabolismDeoxyribonuclease I/metabolismEncyclopedias as TopicExons/geneticsGenetic Predisposition to Disease/geneticsGenetic Variation/geneticsGenome, Human/geneticsGenome-Wide Association StudyGenomicsHistones/chemistry/metabolismHumansMammals/geneticsMolecular Sequence AnnotationNeoplasms/geneticsPolymorphism, Single Nucleotide/geneticsPromoter Regions, Genetic/geneticsProteins/geneticsRegulatory Sequences, Nucleic Acid/geneticsSequence Analysis, RNATranscription Factors/metabolismTranscription, Genetic/genetics
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PMID: 22955616
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Article (Published version) (2.2 MB) - document accessible for UNIGE members only Limited access to UNIGE
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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(ISO format)
ENCODE PROJECT CONSORTIUM. An integrated encyclopedia of DNA elements in the human genome. In: Nature, 2012, vol. 489, n° 7414, p. 57-74. https://archive-ouverte.unige.ch/unige:37818

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Deposited on : 2014-06-16

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