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Identification of polymorphic and off-target probe binding sites on the Illumina Infinium MethylationEPIC BeadChip

By Daniel L McCartney, Rosie M Walker, Stewart W Morris, Andrew McIntosh, David J Porteous, Kathryn Evans

Posted 07 Jun 2016
bioRxiv DOI: 10.1101/056937 (published DOI: 10.1016/j.gdata.2016.05.012)

Genome-wide analysis of DNA methylation has now become a relatively inexpensive technique thanks to array-based methylation profiling technologies. The recently developed Illumina Infinium MethylationEPIC BeadChip interrogates methylation at over 850,000 sites across the human genome, covering 99% of RefSeq genes. This array supersedes the widely used Infinium HumanMethylation450 BeadChip, which has permitted insights into the relationship between DNA methylation and a wide range of conditions and traits. Previous research has identified issues with certain probes on both the HumanMethylation450 BeadChip and its predecessor, the Infinium HumanMethylation27 BeadChip, which were predicted to affect array performance. These issues concerned probe-binding specificity and the presence of polymorphisms at target sites. Using in silico methods, we have identified probes on the Infinium MethylationEPIC BeadChip that are predicted to (i) measure methylation at polymorphic sites and (ii) hybridise to multiple genomic regions. We intend these resources to be used for quality control procedures when analysing data derived from this platform.

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