UMMS Affiliation

Program in Systems Biology; Program in Bioinformatics and Integrative Biology

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Alleles; Animals; Binding Sites; Chromatin; Chromatin Immunoprecipitation; Chromosomes, Human; DNA; DNA Footprinting; DNA Methylation; DNA-Binding Proteins; Deoxyribonuclease I; *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


Bioinformatics | Genetics and Genomics | Systems Biology


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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DOI of Published Version



Nature. 2012 Sep 6;489(7414):57-74. doi: 10.1038/nature11247. Link to article on publisher's site

Journal/Book/Conference Title



Full author list omitted for brevity. For the full list of authors, see article. UMMS authors listed are participants in the ENCODE Project Consortium.

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