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DMRforPairs: identifying differentially methylated regions between unique samples using array based methylation

Martin A Rijlaarsdam, Yvonne G van der Zwan, Lambert C J Dorssers

  • 1Department of Pathology, Laboratory for Experimental Patho-Oncology, Erasmus MC - University Medical Center Rotterdam, Be-432, P,O, Box 2040, Rotterdam 3000 CA, Netherlands. l.looijenga@erasmusmc.nl.

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Summary

DMRforPairs analyzes DNA methylation patterns in individual samples, identifying differentially methylated regions (DMRs) crucial for understanding disease and development when group comparisons aren't feasible.

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Area of Science:

  • Genomics
  • Epigenetics
  • Bioinformatics

Background:

  • Array-based methylation profiling, such as the Illumina Infinium HumanMethylation450 BeadChip, is vital for studying genome methylation in disease and development.
  • Existing analysis tools primarily focus on comparing methylation levels across sample groups or identifying differential methylated regions (DMRs) within groups.
  • There is a need for tools capable of comparing methylation patterns between unique, individual samples, especially when large sample sizes are not available.

Purpose of the Study:

  • To introduce DMRforPairs, a novel computational tool designed for the analysis of regional methylation status between unique samples.
  • To enable the identification and quantification of differentially methylated regions (DMRs) in individual samples.

Main Methods:

  • DMRforPairs identifies probe-dense genomic regions and quantifies methylation differences between individual samples.
  • The tool was validated using public data from four human cell lines (two lymphoblastoid, two cancer cell lines) with technical replicates.

Main Results:

  • DMRforPairs successfully identified DMRs between unique samples.
  • The number of identified DMRs correlated with the decreasing biological similarity between samples.
  • The detected DMRs were associated with the biological origin and phenotype of the cell lines.

Conclusions:

  • DMRforPairs is the first tool developed to identify and visualize significant differentially methylated regions between unique samples.
  • This advancement facilitates methylation analysis in scenarios with limited sample sizes.