MBD-seq - realities of a misunderstood method for high-quality methylome-wide association studies. Issue 4 (2nd April 2020)

• Record Type: Journal Article
• Authors: Aberg, Karolina A.; Chan, Robin F.; van den Oord, Edwin J. C. G.
• Is Part Of: Epigenetics. Volume 15:Issue 4(2020)
• Page Start: 431
• Page End: 438
• Publication Date: 2020-04-02
• Subjects: Epigenetics -- DNA methylation -- methyl-binding domain sequencing -- MBD-seq -- methylome-wide association study (MWAS) -- epigenome-wide association study (EWAS) -- RaMWAS software; Epigenesis -- Periodicals; Epigenetica; 572.86505
• DOI: 10.1080/15592294.2019.1695339
• Languages: English
• ISSNs: 1559-2294

Abstract

ABSTRACT: The majority of methylome-wide association studies (MWAS) have been performed using commercially available array-based technologies such as the Infinium Human Methylation 450K and the Infinium MethylationEPIC arrays (Illumina). While these arrays offer a convenient and relatively robust assessment of the probed sites they only allow interrogation of 2-4% of all CpG sites in the human genome. Methyl-binding domain sequencing (MBD-seq) is an alternative approach for MWAS that provides near-complete coverage of the methylome at similar costs as the array-based technologies. However, despite publication of multiple positive evaluations, the use of MBD-seq for MWAS is often fiercely criticized. Here we discuss key features of the method and debunk misconceptions using empirical data. We conclude that MBD-seq represents an excellent approach for large-scale MWAS and that increased utilization is likely to result in more discoveries, advance biological knowledge, and expedite the clinical translation of methylome-wide research findings.