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An integrated encyclopedia of DNA elements in the human genome.

Publication ,  Journal Article
ENCODE Project Consortium,
Published in: Nature
September 6, 2012

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.

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Published In

Nature

DOI

EISSN

1476-4687

Publication Date

September 6, 2012

Volume

489

Issue

7414

Start / End Page

57 / 74

Location

England

Related Subject Headings

  • Transcription, Genetic
  • Transcription Factors
  • Sequence Analysis, RNA
  • Regulatory Sequences, Nucleic Acid
  • Proteins
  • Promoter Regions, Genetic
  • Polymorphism, Single Nucleotide
  • Neoplasms
  • Molecular Sequence Annotation
  • Mammals
 

Citation

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ENCODE Project Consortium, . (2012). An integrated encyclopedia of DNA elements in the human genome. Nature, 489(7414), 57–74. https://doi.org/10.1038/nature11247
ENCODE Project Consortium, Donald B. “An integrated encyclopedia of DNA elements in the human genome.Nature 489, no. 7414 (September 6, 2012): 57–74. https://doi.org/10.1038/nature11247.
ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012 Sep 6;489(7414):57–74.
ENCODE Project Consortium, Donald B. “An integrated encyclopedia of DNA elements in the human genome.Nature, vol. 489, no. 7414, Sept. 2012, pp. 57–74. Pubmed, doi:10.1038/nature11247.
ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012 Sep 6;489(7414):57–74.
Journal cover image

Published In

Nature

DOI

EISSN

1476-4687

Publication Date

September 6, 2012

Volume

489

Issue

7414

Start / End Page

57 / 74

Location

England

Related Subject Headings

  • Transcription, Genetic
  • Transcription Factors
  • Sequence Analysis, RNA
  • Regulatory Sequences, Nucleic Acid
  • Proteins
  • Promoter Regions, Genetic
  • Polymorphism, Single Nucleotide
  • Neoplasms
  • Molecular Sequence Annotation
  • Mammals