Patterns of Reliability: Assessing the Reproducibility and Integrity of DNA Methylation Measurement.

ABSTRACT: DNA methylation plays an important role in both normal human development and risk of disease. The most utilized method of assessing DNA methylation uses BeadChips, generating an epigenome-wide "snapshot" of >450,000 observations (probe measurements) per assay. However, the reliability of each of these measurements is not equal, and little consideration is paid to consequences for research. We correlated repeat measurements of the same DNA samples using the Illumina HumanMethylation450K and the Infinium MethylationEPIC BeadChips in 350 blood DNA samples. Probes that were reliably measured were more heritable and showed consistent associations with environmental exposures, gene expression, and greater cross-tissue concordance. Unreliable probes were less replicable and generated an unknown v

SUBMITTER: Sugden K 

PROVIDER: S-EPMC7467214 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature