Systematic evaluation and validation of reference and library selection methods for deconvolution of cord blood DNA methylation data.

ABSTRACT:

Background

Umbilical cord blood (UCB) is commonly used in epigenome-wide association studies of prenatal exposures. Accounting for cell type composition is critical in such studies as it reduces confounding due to the cell specificity of DNA methylation (DNAm). In the absence of cell sorting information, statistical methods can be applied to deconvolve heterogeneous cell mixtures. Among these methods, reference-based approaches leverage age-appropriate cell-specific DNAm profiles to estimate cellular composition. In UCB, four reference datasets comprising DNAm signatures profiled in purified cell populations have been published using the Illumina 450 K and EPIC arrays. These datasets are biologically and technically different, and currently, there is no consensus on how to best app

SUBMITTER: Gervin K 

PROVIDER: S-EPMC6712867 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature