A framework for analyzing DNA methylation data from Illumina Infinium HumanMethylation450 BeadChip

BMC Bioinformatics
Zhenxing WangYadong Wang


DNA methylation has been identified to be widely associated to complex diseases. Among biological platforms to profile DNA methylation in human, the Illumina Infinium HumanMethylation450 BeadChip (450K) has been accepted as one of the most efficient technologies. However, challenges exist in analysis of DNA methylation data generated by this technology due to widespread biases. Here we proposed a generalized framework for evaluating data analysis methods for Illumina 450K array. This framework considers the following steps towards a successful analysis: importing data, quality control, within-array normalization, correcting type bias, detecting differentially methylated probes or regions and biological interpretation. We evaluated five methods using three real datasets, and proposed outperform methods for the Illumina 450K array data analysis. Minfi and methylumi are optimal choice when analyzing small dataset. BMIQ and RCP are proper to correcting type bias and the normalized result of them can be used to discover DMPs. R package missMethyl is suitable for GO term enrichment analysis and biological interpretation.


Mar 7, 2007·Nature Reviews. Genetics·Manel Esteller
Jun 6, 2009·Genome Research·Yasuo KogaSherman M Weissman
Mar 4, 2010·Genome Biology·Mark D Robinson, Alicia Oshlack
Apr 16, 2010·Nature·Thomas J HudsonHuanming Yang
Jul 2, 2011·Nature·Cancer Genome Atlas Research Network
Aug 16, 2011·Genomics·Marina BibikovaRichard Shen
Dec 1, 2011·Epigenomics·Sarah DedeurwaerderFrançois Fuks
Oct 5, 2012·Genome Biology·Kasper D HansenRafael A Irizarry
Jan 15, 2013·Epigenetics : Official Journal of the DNA Methylation Society·Yi-an ChenRosanna Weksberg
Mar 12, 2013·Nucleic Acids Research·Timothy J TricheKimberly D Siegmund
Apr 20, 2013·Nucleic Acids Research·Charles D WardenYate-Ching Yuan
May 2, 2013·BMC Genomics·Ruth PidsleyLeonard C Schalkwyk
May 3, 2013·Nature·Cyriac KandothDouglas A Levine
Jun 5, 2013·Bioinformatics·Paul GeeleherCathal Seoighe
Aug 31, 2013·Briefings in Bioinformatics·Sarah DedeurwaerderFrançois Fuks
Mar 13, 2014·Bioinformatics·Peter A StockwellIan M Morison
Apr 1, 2014·Molecular Systems Biology·Yevgeniy GindinSven Bilke
Jan 1, 2013·F1000Research·Mike L SmithKasper D Hansen
May 20, 2014·Bioinformatics·Yongseok ParkMaureen A Sartor
Sep 19, 2015·Nucleic Acids Research·Zongli XuJack A Taylor
Aug 16, 2017·Methods : a Companion to Methods in Enzymology·Jiajie PengJin Chen
Oct 3, 2017·Briefings in Bioinformatics·Liang ChengMeng Zhou
Jan 4, 2018·BMC Bioinformatics·Jiajie PengXuequn Shang


Mar 8, 2019·The Journal of Pathology·Tanjina KaderKylie L Gorringe
May 29, 2018·Epigenetics & Chromatin·Thadeous J KacmarczykDoron Betel
Aug 28, 2020·American Journal of Human Biology : the Official Journal of the Human Biology Council·Calen P Ryan
Sep 24, 2020·Epigenetics : Official Journal of the DNA Methylation Society·Hyeon-Kyoung KooDawn L DeMeo
Jun 27, 2019·World Journal of Gastroenterology : WJG·Ji-Bin LiYong-Peng Wang
Oct 13, 2020·Nucleic Acids Research·Jiayi YinFeng Zhu
Jan 8, 2021·Epigenomics·Diana L Juvinao-QuinteroMarie-France Hivert

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