Epigenetics is the study of the changes in gene expression that are heritable and do not involve a change in the DNA sequence. DNA methylation is one of the key epigenetic mechanisms that is clearly understood. DNA methylation plays a major role in transcriptional silencing in X inactivation, genomic imprinting and tumor or cancer formation. Today the field of epigenetics has evolved to epigenomics and the focus of DNA methylation analysis has shifted to genome wide methylation analysis. With the increasing interest in the field of epigenomics, initiatives such as the NIH Roadmap Epigenomics Program were established aiming to transform biomedical research by developing new technologies and resources for comprehensive epigenomic studies. Because of high productivity and high accuracy, "high throughput DNA methylation profiling" techniques are at the heart of these initiatives. Methylation profiling is performed on chemically treated DNA fragments using bead array platforms and DNA sequences resulting from high throughput sequencing (HTS). Bead array platforms use sets of probes for the identification of the methylation status and computer algorithms identify the methylation status by mapping DNA sequences to the reference genome.
Key words: Epigenetics, DNA methylation
Sri Lanka Journal of Bio-Medical Informatics 2009;1(1): 53-62