Epigenome-wide Association Studies and the Interpretation of Disease -Omics

Ewan Birney, George Davey Smith, John M Greally

Research output: Contribution to journalArticle (Academic Journal)peer-review

153 Citations (Scopus)
299 Downloads (Pure)


Epigenome-wide association studies represent one means of applying genome-wide assays to identify molecular events that could be associated with human phenotypes. The epigenome is especially intriguing as a target for study, as epigenetic regulatory processes are, by definition, heritable from parent to daughter cells and are found to have transcriptional regulatory properties. As such, the epigenome is an attractive candidate for mediating long-term responses to cellular stimuli, such as environmental effects modifying disease risk. Such epigenomic studies represent a broader category of disease -omics, which suffer from multiple problems in design and execution that severely limit their interpretability. Here we define many of the problems with current epigenomic studies and propose solutions that can be applied to allow this and other disease -omics studies to achieve their potential for generating valuable insights.
Original languageEnglish
Article numbere1006105
Number of pages9
JournalPLoS Genetics
Issue number6
Publication statusPublished - 23 Jun 2016


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