title: Identification of polymorphic and off-target probe binding sites on the Illumina Infinium MethylationEPIC BeadChip.
abstract: 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.
authors.affiliation: Medical Genetics Section, Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK.
authors.forename: Daniel L
authors.initials: DL
authors.lastname: McCartney
authors.affiliation: Medical Genetics Section, Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK.
authors.forename: Rosie M
authors.initials: RM
authors.lastname: Walker
authors.affiliation: Medical Genetics Section, Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK.
authors.forename: Stewart W
authors.initials: SW
authors.lastname: Morris
authors.affiliation: Medical Genetics Section, Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK; Division of Psychiatry, Royal Edinburgh Hospital, The University of Edinburgh, Edinburgh EH10 5HF, UK; Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, The University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK.
authors.forename: Andrew M
authors.initials: AM
authors.lastname: McIntosh
authors.affiliation: Medical Genetics Section, Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK; Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, The University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK.
authors.forename: David J
authors.initials: DJ
authors.lastname: Porteous
authors.affiliation: Medical Genetics Section, Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK; Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, The University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK.
authors.forename: Kathryn L
authors.initials: KL
authors.lastname: Evans
keywords: Cross-hybridising probes; DNA methylation; Infinium MethylationEPIC BeadChip; Polymorphic CpG; Quality control