Estimating and accounting for tumor purity in the analysis of DNA methylation data from cancer studies

Genome Biol. 2017 Jan 25;18(1):17. doi: 10.1186/s13059-016-1143-5.

Abstract

We present a set of statistical methods for the analysis of DNA methylation microarray data, which account for tumor purity. These methods are an extension of our previously developed method for purity estimation; our updated method is flexible, efficient, and does not require data from reference samples or matched normal controls. We also present a method for incorporating purity information for differential methylation analysis. In addition, we propose a control-free differential methylation calling method when normal controls are not available. Extensive analyses of TCGA data demonstrate that our methods provide accurate results. All methods are implemented in InfiniumPurify.

Keywords: Cancer epigenomics; DNA methylation; Differential methylation; Tumor purity.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Algorithms
  • Cluster Analysis
  • Computer Simulation
  • CpG Islands
  • DNA Methylation*
  • Epigenesis, Genetic*
  • Epigenomics / methods*
  • Humans
  • Neoplasms / genetics*
  • ROC Curve