Genome-wide assays that identify and quantify modified cytosines in human disease studies

摘要: The number of different assays that has been published to study DNA methylation is extensive, complemented by recently described test modifications cytosine other than the most abundant 5-methylcytosine (5mC) variant. In this review, we describe considerations involved in choosing how 5mC throughout genome, with an emphasis on common application testing for epigenetic dysregulation human disease. While microarray studies continue be commonly used, these lack additional qualitative information from sequencing-based approaches increasingly recognized valuable. When representation functional elements genome several current assay types, find no survey approach interrogates anything more a small minority nonpromoter cis-regulatory sites where variability now appreciated influence gene expression and associated However, whole-genome bisulphite sequencing (WGBS) adds substantial loci at which changes are unlikely occurring transcriptional consequences. Our assessment effective diseases use targeted cell type interest, using capture-based or comparable system, single design will suitable all types.