npj Genomic Medicine (Apr 2017)

Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans

  • Juan J. Carmona,
  • William P. Accomando,
  • Alexandra M. Binder,
  • John N. Hutchinson,
  • Lorena Pantano,
  • Benedetta Izzi,
  • Allan C. Just,
  • Xihong Lin,
  • Joel Schwartz,
  • Pantel S. Vokonas,
  • Sami S. Amr,
  • Andrea A. Baccarelli,
  • Karin B. Michels

DOI
https://doi.org/10.1038/s41525-017-0012-9
Journal volume & issue
Vol. 2, no. 1
pp. 1 – 10

Abstract

Read online

Epigenetics: choose your DNA methylation probing tool wisely! Researchers who study human epigenetics need to carefully consider the platform used to measure genome-wide patterns of DNA methylation. A team led by Karin Michels and Andrea Baccarelli from Harvard University in Boston, Massachusetts, USA, empirically examined the strengths and weaknesses of two methylation profiling tools: Illumina’s Infinium BeadChip, which uses a microarray system to interrogate hundreds of thousands of methylation sites across the genome at single-nucleotide resolution; and a high-throughput sequencing-based approach known as rapid multiplexed reduced representation bisulfite sequencing, or rmRRBS. The former did a better job at reading methylation in protein-coding and mitochondrial-related genes, while the latter required less input DNA and covered more methylation sites across the genome. The authors conclude that a scientist’s platform preference should depend on the nature of his or her investigation.