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Cell-type deconvolution in epigenome-wide association studies: a review and recommendations

Teschendorff, AE; Zheng, SC; (2017) Cell-type deconvolution in epigenome-wide association studies: a review and recommendations. [Review]. Epigenomics , 9 (5) pp. 757-768. 10.2217/epi-2016-0153. Green open access

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Abstract

A major challenge faced by epigenome-wide association studies (EWAS) is cell-type heterogeneity. As many EWAS have already demonstrated, adjusting for changes in cell-type composition can be critical when analyzing and interpreting findings from such studies. Because of their importance, a great number of different statistical algorithms, which adjust for cell-type composition, have been proposed. Some of the methods are ‘reference based’ in that they require a priori defined reference DNA methylation profiles of cell types that are present in the tissue of interest, while other algorithms are ‘reference free.’ At present, however, it is unclear how best to adjust for cell-type heterogeneity, as this may also largely depend on the type of tissue and phenotype being considered. Here, we provide a critical review of the major existing algorithms for correcting cell-type composition in the context of Illumina Infinium Methylation Beadarrays, with the aim of providing useful recommendations to the EWAS community.

Type: Article
Title: Cell-type deconvolution in epigenome-wide association studies: a review and recommendations
Open access status: An open access version is available from UCL Discovery
DOI: 10.2217/epi-2016-0153
Publisher version: http://doi.org/10.2217/epi-2016-0153
Language: English
Additional information: Copyright © Andrew E Teschendorf 2017. This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 Unported License
Keywords: cell-type heterogeneity, DNA methylation, EWAS
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
URI: https://discovery.ucl.ac.uk/id/eprint/1556980
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