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.
Keywords: Genomics, Metabolomics, Multiomics, Proteomics.
