Multi-omics in Human Disease Biomarker Discovery

Sequencing of the human genome has been a major breakthrough that has paved the way to understand the biological functions of various biomolecules. Further advancement in biomedical research has been a result of invention of high-throughput technologies, viz., proteomics, genomic, metabolomics, and transcriptomics which are together referred as multi-omic technologies. These technologies are now effectively used in an efficient way for human disease diagnosis, treatment, and monitoring. Although there has been significant advancement in understanding of human diseases, there are diseases which are diagnosed only at a late stage due to absence of early disease-specific symptoms. Therefore, identification of novel disease biomarkers is an important area which is being extensively explored by biomedical scientists across the world. Biological states, whether healthy or diseased, can now be defined by disease-specific analysis of differential gene expression using genotyping arrays and other transcriptomic studies. Role of biological molecules in the human body can further be predicted by proteomic and metabolomic studies. These high-throughput technologies generate large multi-omic data that enables us to identify the role of genes, proteins, and metabolites in various biological pathways. Assessment of these multi-omic data further helps in understanding the expression, function, and interaction between various biomolecules in a diseased condition and classify them as disease biomarkers. In this chapter, we will discuss the significance of omic technologies as promising tools to understand the biological processes behind some important human diseases and their role in discovery of disease-specific biomarkers.