Genome-wide epigenetic data facilitate understanding of disease susceptibility association studies

Research output: Contribution to journalShort surveypeer-review

31 Scopus citations

Abstract

Complex traits such as susceptibility to diseases are determined in part by variants at multiple genetic loci. Genome-wide association studies can identify these loci, but most phenotype-associated variants lie distal to protein-coding regions and are likely involved in regulating gene expression. Understanding how these genetic variants affect complex traits depends on the ability to predict and test the function of the genomic elements harboring them. Community efforts such as the ENCODE Project provide a wealth of data about epigenetic features associated with gene regulation. These data enable the prediction of testable functions for many phenotype-associated variants.

Original languageEnglish (US)
Pages (from-to)30932-30940
Number of pages9
JournalJournal of Biological Chemistry
Volume287
Issue number37
DOIs
StatePublished - Sep 7 2012

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Cell Biology

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