Associating cellular epigenetic models with human phenotypes

Tuuli Lappalainen, John M. Greally

Research output: Contribution to journalReview article

82 Scopus citations

Abstract

Epigenetic association studies have been carried out to test the hypothesis that environmental perturbations trigger cellular reprogramming, with downstream effects on cellular function and phenotypes. There have now been numerous studies of the potential molecular mediators of epigenetic changes by epigenome-wide association studies (EWAS). However, a challenge for the field is the interpretation of the results obtained. We describe a second-generation EWAS approach, which focuses on the possible cellular models of epigenetic perturbations, studied by rigorous analysis and interpretation of genomic data. Thus refocused, epigenetics research aligns with the field of functional genomics to provide insights into environmental and genetic influences on phenotypic variation in humans.

Original languageEnglish (US)
Pages (from-to)441-451
Number of pages11
JournalNature Reviews Genetics
Volume18
Issue number7
DOIs
StatePublished - Jul 1 2017

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ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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