OP038: Novel whole methylome automated data analysis tool for investigation of unsolved diagnostic odyssey cases

The study of epigenetics has changed the lens in which we view both health and disease. Emerging tools in this field have brought new discoveries to the forefront of preventive, diagnostic and therapeutic markers. DNA methylation is an essential process that regulates chromatin structure and gene expression, and therefore affects many cellular functions including gene imprinting and cell differentiation. Using the power of molecular techniques and bioinformatics, we can now gain insight into methylation patterns at a single nucleotide level throughout the genome.