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Nature DOI:10.1038/nature11247

An integrated encyclopedia of DNA elements in the human genome.

Publication TypeJournal Article
Year of Publication2012
Corporate AuthorsENCODE Project Consortium
JournalNature
Volume489
Issue7414
Pages57-74
Date Published2012 Sep 6
ISSN1476-4687
KeywordsAlleles, Animals, Binding Sites, Chromatin, Chromatin Immunoprecipitation, Chromosomes, Human, Deoxyribonuclease I, DNA, DNA Footprinting, DNA Methylation, DNA-Binding Proteins, Encyclopedias as Topic, Exons, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Genome-Wide Association Study, Genomics, Histones, Humans, Mammals, Molecular Sequence Annotation, Neoplasms, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Proteins, Regulatory Sequences, Nucleic Acid, Sequence Analysis, RNA, Transcription Factors, Transcription, Genetic
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.

DOI10.1038/nature11247
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/22955616?dopt=Abstract

Alternate JournalNature
PubMed ID22955616
PubMed Central IDPMC3439153
Grant List095908 / / Wellcome Trust / United Kingdom
K99 HG006698 / HG / NHGRI NIH HHS / United States
P30 CA016086 / CA / NCI NIH HHS / United States
P30 CA045508 / CA / NCI NIH HHS / United States
R01 DK054369 / DK / NIDDK NIH HHS / United States
R01 DK065806 / DK / NIDDK NIH HHS / United States
R01 HG003143 / HG / NHGRI NIH HHS / United States
R01 HG005085 / HG / NHGRI NIH HHS / United States
R01HG003143 / HG / NHGRI NIH HHS / United States
R01HG003541 / HG / NHGRI NIH HHS / United States
R01HG003700 / HG / NHGRI NIH HHS / United States
R01HG003988 / HG / NHGRI NIH HHS / United States
R01HG004456-03 / HG / NHGRI NIH HHS / United States
R37 DK044746 / DK / NIDDK NIH HHS / United States
RC2 HG005573 / HG / NHGRI NIH HHS / United States
RC2HG005591 / HG / NHGRI NIH HHS / United States
RC2HG005679 / HG / NHGRI NIH HHS / United States
T32 GM007205 / GM / NIGMS NIH HHS / United States
U01 HG004695 / HG / NHGRI NIH HHS / United States
U01HG004561 / HG / NHGRI NIH HHS / United States
U01HG004571 / HG / NHGRI NIH HHS / United States
U01HG004695 / HG / NHGRI NIH HHS / United States
U41HG004568 / HG / NHGRI NIH HHS / United States
U54HG004555 / HG / NHGRI NIH HHS / United States
U54HG004557 / HG / NHGRI NIH HHS / United States
U54HG004558 / HG / NHGRI NIH HHS / United States
U54HG004563 / HG / NHGRI NIH HHS / United States
U54HG004570 / HG / NHGRI NIH HHS / United States
U54HG004576 / HG / NHGRI NIH HHS / United States
U54HG004592 / HG / NHGRI NIH HHS / United States
ZIAHG200323 / / PHS HHS / United States
ZIAHG200341 / / PHS HHS / United States
/ / Intramural NIH HHS / United States