Abstract

Multiomics also described as integrative omics is an analytical approach that combines data from multiple ‘omics’ approaches including genomics, transcriptomics, proteomics, metabolomics, epigenomics, metagenomics and Meta transcriptomics to answer the complex biological processes involved in rare genetic disorders. This omics approach is particularly helpful since it identifies biomarkers of disease progression and treatment progress by collective characterization and quantification of pools of biological molecules within and among the various types of cells to better understand and categorize the Mendelian and non- Mendelian forms of rare diseases. As compared to studies of a single omics type, multi-omics offers the opportunity to understand the flow of information that underlies the disease. A range of omics software and databases, for example WikiPathways, MixOmics, MONGKIE, GalaxyP, GalaxyM, CrossPlatform Commander, and iCluster are used for multi-omics data exploration and integration in rare disease analysis. Recent advances in the field of genetics and translational research have opened new treatment avenues for patients. The innovation in the next generation sequencing and RNA sequencing has improved the ability from diagnostics to detection of molecular alterations like gene mutations in specific disease types. In this chapter, we provide an overview of such omics technologies and focus on methods for their integration across multiple omics layers. The scrupulous understanding of rare genetic disorders and their treatment at the molecular level led to the concept of a personalized approach, which is one of the most significant advancements in modern research which enable researchers to better comprehend the flow of knowledge which underpins genetic diseases.