An Integrative Approach to Bioinformatics and Epigenetics Toward Personalized Medicine

Studies on epigenetics have shown cell control, gene function, and putative change or modification in the DNA's sequence. Genes are prone to changes that are brought about by a number of mechanisms encompassing gene conversion, exon/intron reshuffling, alteration in the mutational landscape, and copy number variation of the genes. In addition, repeat DNA sequences tend to expand or shrink changing the topology of adjacent genes resulting in a change in their functions. Alterations in gene activity, especially those that are brought on by epigenetic errors, frequently cause genetic diseases. Researchers are particularly interested in how epigenetic modifications and mistakes affect gene function, protein synthesis, and human health. Precise mapping and evaluation of epigenetic biomarkers will enhance treatment approaches by enabling more accurate and early diagnosis prior to a change in the genetical landscape. This chapter covers the topics of genomics, bioinformatics and epigenetic clocks that pave the way to personalized medicine. It is envisaged that a deeper understanding of the epigenetic modification of the genome or its aberration would augment our understanding of the function of the normal and diseased human genomes.

Keywords: Disease diagnosis, Epigenetic modification, Epigenetic clocks and protein misfolding, Gene expression, Precision medicine.