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An integrated encyclopedia of DNA elements in the human genome
- Source :
- Nature, Nature, Nature Publishing Group, 2012, 489 (7414), pp.57-74. ⟨10.1038/nature11247⟩, NATURE, Nature, Vol. 489, No 7414 (2012) pp. 57-74, PMC, Recercat. Dipósit de la Recerca de Catalunya, instname
- Publication Year :
- 2012
- Publisher :
- HAL CCSD, 2012.
-
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. The Consortium is funded by grants from the NHGRI as follows: production grants: U54HG004570 (B. E. Bernstein); U01HG004695 (E. Birney); U54HG004563 (G. E. Crawford); U54HG004557 (T. R. Gingeras); U54HG004555 (T. J. Hubbard); U41HG004568 /n(W. J. Kent); U54HG004576 (R. M. Myers); U54HG004558 (M. Snyder);/nU54HG004592 (J. A. Stamatoyannopoulos). Pilot grants: R01HG003143 (J. Dekker); RC2HG005591 and R01HG003700 (M. C. Giddings); R01HG004456-03 (Y. Ruan); U01HG004571 (S. A. Tenenbaum); U01HG004561 (Z. Weng); RC2HG005679 (K. P. White). This project was supported in part by American Recovery and/nReinvestment Act (ARRA) funds from the NHGRI through grants U54HG004570, U54HG004563, U41HG004568, U54HG004592, R01HG003143, RC2HG005591,R01HG003541, U01HG004561, RC2HG005679andR01HG003988(L. Pennacchio). In addition, work from NHGRI Groups was supported by the Intramural Research/nProgram of the NHGRI (L. Elnitski, ZIAHG200323; E. H. Margulies, ZIAHG200341). Research in the Pennachio laboratory was performed at Lawrence Berkeley National Laboratory and at the United States Department of Energy Joint Genome Institute, Department of Energy Contract DE-AC02-05CH11231, University of California.
- Subjects :
- Encyclopedias as Topic
[SDV]Life Sciences [q-bio]
DNA Footprinting
Genoma humà
Binding Sites/genetics
Histones/chemistry/metabolism
0302 clinical medicine
Exons/genetics
ddc:576.5
0303 health sciences
Multidisciplinary
[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology
[SDV.BIBS] Life Sciences [q-bio]/Quantitative Methods [q-bio.QM]
DNA-Binding Proteins/metabolism
region
Chemistry
Genetic Predisposition to Disease/genetics
Genomics
Polymorphism, Single Nucleotide/genetics
[SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM]
Neoplasms/genetics
Chromatin
Cell biology
in vivo
Genetic Variation/genetics
030220 oncology & carcinogenesis
Deoxyribonuclease I/metabolism
Proteins/genetics
transcription factor-binding
chromosome conformation capture
DNA Methylation/genetics
Chromosomes, Human/genetics/metabolism
Chromatin Immunoprecipitation
Mammals/genetics
DNA/genetics
determinant
Article
03 medical and health sciences
map
Animals
Humans
Transcription Factors/metabolism
Alleles
mouse
030304 developmental biology
Transcription, Genetic/genetics
Chromatin/genetics/metabolism
Sequence Analysis, RNA
human cell
Molecular Sequence Annotation
Regulatory Sequences, Nucleic Acid/genetics
Promoter Regions, Genetic/genetics
DNA binding site
Genòmica
Genome, Human/genetics
chromatin
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Genètica
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 00280836, 14764679, and 14764687
- Database :
- OpenAIRE
- Journal :
- Nature, Nature, Nature Publishing Group, 2012, 489 (7414), pp.57-74. ⟨10.1038/nature11247⟩, NATURE, Nature, Vol. 489, No 7414 (2012) pp. 57-74, PMC, Recercat. Dipósit de la Recerca de Catalunya, instname
- Accession number :
- edsair.doi.dedup.....2b208801384684d0028cc28316677b0d