title: Using the ENCODE Resource for Functional Annotation of Genetic Variants.
abstract: This article illustrates the use of the Encyclopedia of DNA Elements (ENCODE) resource to generate or refine hypotheses from genomic data on disease and other phenotypic traits. First, the goals and history of ENCODE and related epigenomics projects are reviewed. Second, the rationale for ENCODE and the major data types used by ENCODE are briefly described, as are some standard heuristics for their interpretation. Third, the use of the ENCODE resource is examined. Standard use cases for ENCODE, accessing the ENCODE resource, and accessing data from related projects are discussed. Although the focus of this article is the use of ENCODE data, some of the same approaches can be used with data from other projects.
authors.affiliation: Division of Genome Sciences, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Pazin
mesh_terms: D000818:Animals; D030541:Databases, Genetic; D057890:Epigenomics; D056726:Genetic Association Studies; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic