MethylPurify: tumor purity deconvolution and differential methylation detection from single tumor DNA methylomes

Genome Biol. 2014 Aug 7;15(8):419. doi: 10.1186/s13059-014-0419-x.

Abstract

We propose a statistical algorithm MethylPurify that uses regions with bisulfite reads showing discordant methylation levels to infer tumor purity from tumor samples alone. MethylPurify can identify differentially methylated regions (DMRs) from individual tumor methylome samples, without genomic variation information or prior knowledge from other datasets. In simulations with mixed bisulfite reads from cancer and normal cell lines, MethylPurify correctly inferred tumor purity and identified over 96% of the DMRs. From patient data, MethylPurify gave satisfactory DMR calls from tumor methylome samples alone, and revealed potential missed DMRs by tumor to normal comparison due to tumor heterogeneity.

Publication types

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

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma of Lung
  • Algorithms
  • Breast / metabolism
  • Breast / pathology
  • Breast Neoplasms / genetics*
  • Cell Line
  • Computational Biology / methods*
  • DNA Methylation*
  • Female
  • Genetic Heterogeneity
  • Humans
  • Lung Neoplasms / genetics*
  • Models, Statistical
  • Sequence Analysis, DNA