Title | An integrated encyclopedia of DNA elements in the human genome. |
Publication Type | Journal Article |
Year of Publication | 2012 |
Corporate Authors | ENCODE Project Consortium |
Journal | Nature |
Volume | 489 |
Issue | 7414 |
Pagination | 57-74 |
Date Published | 2012 Sep 06 |
ISSN | 1476-4687 |
Keywords | Alleles, 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. |
DOI | 10.1038/nature11247 |
Alternate Journal | Nature |
PubMed ID | 22955616 |
PubMed Central ID | PMC3439153 |
Grant List | R01HG003143 / HG / NHGRI NIH HHS / United States RC2 HG005573 / HG / NHGRI NIH HHS / United States U54HG004592 / HG / NHGRI NIH HHS / United States RC2 HG005679 / HG / NHGRI NIH HHS / United States R01 HG003143 / HG / NHGRI NIH HHS / United States ZIA HG200341 / ImNIH / Intramural NIH HHS / United States U41HG004568 / HG / NHGRI NIH HHS / United States U54 HG004557 / HG / NHGRI NIH HHS / United States U01HG004695 / HG / NHGRI NIH HHS / United States U54 HG004570 / HG / NHGRI NIH HHS / United States R37 DK044746 / DK / NIDDK NIH HHS / United States U54 HG004576 / HG / NHGRI NIH HHS / United States U54HG004570 / HG / NHGRI NIH HHS / United States R01HG003988 / HG / NHGRI NIH HHS / United States U54 HG004592 / HG / NHGRI NIH HHS / United States U54HG004576 / HG / NHGRI NIH HHS / United States R01 HG003988 / HG / NHGRI NIH HHS / United States R01 HG003541 / HG / NHGRI NIH HHS / United States R01HG004456-03 / HG / NHGRI NIH HHS / United States R01HG003541 / HG / NHGRI NIH HHS / United States U54HG004558 / HG / NHGRI NIH HHS / United States ZIAHG200341 / / PHS HHS / United States RC2HG005591 / HG / NHGRI NIH HHS / United States RC2 HG005591 / HG / NHGRI NIH HHS / United States K99 HG006698 / HG / NHGRI NIH HHS / United States U54 HG004558 / HG / NHGRI NIH HHS / United States P30 CA016086 / CA / NCI NIH HHS / United States R01 DK054369 / DK / NIDDK NIH HHS / United States ZIA HG200323 / ImNIH / Intramural NIH HHS / United States U54HG004557 / HG / NHGRI NIH HHS / United States U54 HG004563 / HG / NHGRI NIH HHS / United States ZIAHG200323 / / PHS HHS / United States U01HG004561 / HG / NHGRI NIH HHS / United States U54HG004563 / HG / NHGRI NIH HHS / United States R01 HG005085 / HG / NHGRI NIH HHS / United States U01 HG004571 / HG / NHGRI NIH HHS / United States U41 HG004568 / HG / NHGRI NIH HHS / United States R01HG003700 / HG / NHGRI NIH HHS / United States T32 GM007205 / GM / NIGMS NIH HHS / United States 095908 / WT_ / Wellcome Trust / United Kingdom R01 DK065806 / DK / NIDDK NIH HHS / United States P30 CA045508 / CA / NCI NIH HHS / United States RC2HG005679 / HG / NHGRI NIH HHS / United States R01 HG003700 / HG / NHGRI NIH HHS / United States U01 HG004695 / HG / NHGRI NIH HHS / United States U54HG004555 / HG / NHGRI NIH HHS / United States U01 HG004561 / HG / NHGRI NIH HHS / United States U01HG004571 / HG / NHGRI NIH HHS / United States U54 HG004555 / HG / NHGRI NIH HHS / United States R01 HG004456 / HG / NHGRI NIH HHS / United States |
Related Faculty:
Andrea Sboner, Ph.D.