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

Ewan Birney, George Davey Smith, John M. Greally

Research output: Contribution to journalReview article

86 Citations (Scopus)

Abstract

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 (US)
Article numbere1006105
JournalPLoS Genetics
Volume12
Issue number6
DOIs
StatePublished - Jun 1 2016

Fingerprint

epigenetics
Epigenomics
Genetic Epigenesis
environmental effect
phenotype
genome
assay
Genome
Phenotype
assays
cells

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Ecology, Evolution, Behavior and Systematics
  • Cancer Research
  • Genetics(clinical)

Cite this

Epigenome-wide Association Studies and the Interpretation of Disease -Omics. / Birney, Ewan; Smith, George Davey; Greally, John M.

In: PLoS Genetics, Vol. 12, No. 6, e1006105, 01.06.2016.

Research output: Contribution to journalReview article

@article{92aa6449ff014c358b330c37e0fd61a4,
title = "Epigenome-wide Association Studies and the Interpretation of Disease -Omics",
abstract = "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.",
author = "Ewan Birney and Smith, {George Davey} and Greally, {John M.}",
year = "2016",
month = "6",
day = "1",
doi = "10.1371/journal.pgen.1006105",
language = "English (US)",
volume = "12",
journal = "PLoS Genetics",
issn = "1553-7390",
publisher = "Public Library of Science",
number = "6",

}

TY - JOUR

T1 - Epigenome-wide Association Studies and the Interpretation of Disease -Omics

AU - Birney, Ewan

AU - Smith, George Davey

AU - Greally, John M.

PY - 2016/6/1

Y1 - 2016/6/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84977481546&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84977481546&partnerID=8YFLogxK

U2 - 10.1371/journal.pgen.1006105

DO - 10.1371/journal.pgen.1006105

M3 - Review article

C2 - 27336614

AN - SCOPUS:84977481546

VL - 12

JO - PLoS Genetics

JF - PLoS Genetics

SN - 1553-7390

IS - 6

M1 - e1006105

ER -