An accessible GenePattern notebook for the copy number variation analysis of Illumina Infinium DNA methylation arrays

F1000Res. 2018 Dec 5:7:ISCB Comm J-1897. doi: 10.12688/f1000research.16338.1. eCollection 2018.

Abstract

Illumina Infinium DNA methylation arrays are a cost-effective technology to measure DNA methylation at CpG sites genome-wide and across cohorts of normal and cancer samples. While copy number alterations are commonly inferred from array-CGH, SNP arrays, or whole-genome DNA sequencing, Illumina Infinium DNA methylation arrays have been shown to detect copy number alterations at comparable sensitivity. Here we present an accessible, interactive GenePattern notebook for the analysis of copy number variation using Illumina Infinium DNA methylation arrays. The notebook provides a graphical user interface to a workflow using the R/Bioconductor packages minfi and conumee. The environment allows analysis to be performed without the installation of the R software environment, the packages and dependencies, and without the need to write or manipulate code.

Keywords: DNA methylation; GenePattern Notebook; Illumina Infinium methylation arrays; Jupyter Notebook; R/Bioconductor; conumee; copy number variation; interactive; minfi; open-source; pre-processing; visualization.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • CpG Islands
  • DNA Copy Number Variations*
  • DNA Methylation*
  • Humans
  • Neoplasms / genetics
  • Oligonucleotide Array Sequence Analysis
  • Software*