A comparison of reference-based algorithms for correcting cell-type heterogeneity in Epigenome-Wide Association Studies.

ABSTRACT:

Background

Intra-sample cellular heterogeneity presents numerous challenges to the identification of biomarkers in large Epigenome-Wide Association Studies (EWAS). While a number of reference-based deconvolution algorithms have emerged, their potential remains underexplored and a comparative evaluation of these algorithms beyond tissues such as blood is still lacking.

Results

Here we present a novel framework for reference-based inference, which leverages cell-type specific DNAse Hypersensitive Site (DHS) information from the NIH Epigenomics Roadmap to construct an improved reference DNA methylation database. We show that this leads to a marginal but statistically significant improvement of cell-count estimates in whole blood as well as in mixtures involving epithelial cell-

SUBMITTER: Teschendorff AE 

PROVIDER: S-EPMC5307731 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature