Aberg Karolina A, Chan Robin F, Xie Linying, Shabalin Andrey A, van den Oord Edwin J C G
Center for Biomarker Research and Precision Medicine, Virginia Commonwealth University, P. O. Box 980533, Richmond, VA, 23298, USA.
Methods Mol Biol. 2018;1708:171-189. doi: 10.1007/978-1-4939-7481-8_10.
Detailed biological knowledge about the potential importance of the methylome is typically lacking for common diseases. Therefore, methylome-wide association studies (MWAS) are critical to detect disease relevant methylation sites. Methyl-CpG-binding domain sequencing (MBD-seq) offers potential advantages compared to antibody-based enrichment, but performance depends critically on using an optimal protocol. Using an optimized protocol, MBD-seq can approximate the sensitivity/specificity obtained with whole-genome bisulfite sequencing, but at a fraction of the costs and time to complete the project. Thus, MBD-seq offers a comprehensive first pass at the CpG methylome and is economically feasible with the samples sizes required for MWAS.
对于常见疾病,通常缺乏关于甲基化组潜在重要性的详细生物学知识。因此,全甲基化组关联研究(MWAS)对于检测与疾病相关的甲基化位点至关重要。与基于抗体的富集方法相比,甲基化CpG结合域测序(MBD-seq)具有潜在优势,但性能关键取决于使用最佳方案。使用优化的方案,MBD-seq可以接近全基因组亚硫酸氢盐测序获得的灵敏度/特异性,但成本和完成项目所需的时间仅为其一小部分。因此,MBD-seq提供了对CpG甲基化组的全面初步分析,并且对于MWAS所需的样本量在经济上是可行的。