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.