omics

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omics, any of several areas of biological study defined by the investigation of the entire complement of a specific type of biomolecule or the totality of a molecular process within an organism. In biology the word omics refers to the sum of constituents within a cell. The omics sciences share the overarching aim of identifying, describing, and quantifying the biomolecules and molecular processes that contribute to the form and function of cells and tissues.

Branches

There are many branches of omics sciences. Examples of well-established fields include genomics, proteomics, and metabolomics. Genomics considers the totality of the structure and function of an organism’s genome (the entire set of genes), while proteomics focuses on the proteome—the entire collection of proteins in an organism’s cells. Metabolomics is concerned with metabolism and, more specifically, with the function and interactions of metabolic breakdown products, or metabolites. Other branches of omics include transcriptomics, the study of the full complement of RNA in an organism’s cells, and lipidomics, which focuses on lipids and pathways involved in lipid signaling. The interdisciplinary nature of the omics sciences is reflected particularly in the field of interactomics, which brings together biology and bioinformatics to investigate the relationships and interplay between proteins and other molecules and the significance of those interactions.

Technologies and data management

Technologies that are paramount to omics sciences include various high-throughput (automated) biochemical assays and software and databases that allow for complex integrated analyses. In genomics, for example, next-generation sequencing and assays designed to detect genetic variations play an essential role in identifying and characterizing genes. Microarray analysis and RNA sequencing likewise serve a critical role in transcriptomics, while microarray, liquid chromatography, and mass spectrometry are examples of technologies used for the identification and characterization of proteins.

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Such high-throughput assays generate large amounts of data, which can be used for modeling and other forms of analysis but which also present challenges for data storage. Multiple databases have been constructed to house data from omics studies and to render the data publicly available. Examples include the Cancer Genome Atlas, the International Cancer Genome Consortium, the ProteomeXchange Consortium, the Proteomics Identifications Database, and the Human Metabolome Database.

Impact and challenges

The impact of omics is most apparent in medicine. Sequencing of the human genome, for example, has fueled advances in personalized medicine, in which decisions about disease prevention, diagnosis, and treatment are tailored to patients based on information derived from genetic and genomic research. In particular, genomic data have played key roles in the development of predictive models of disease and in informing therapeutic decisions, such as in the treatment of cancer. Similar links between omics and personalized medicine have emerged from metabolomics with the discovery of new biomarkers of disease. An example is the investigation of disturbances in metabolic pathways that affect levels of substances such as fatty acids and bile acids; this work has led to the identification of biomarkers with the potential to improve early diagnosis of hepatocellular carcinoma.

Nonetheless, significant challenges remain in the omics sciences, especially concerning data complexity, data management, and the integration of data from omics studies with data from other sources, such as clinical data gathered during routine physician visits. Other challenges are more fundamental, such as in assay development and refinement. In large-scale proteomic analysis, for instance, agents designed to bind to specific proteins often are lacking in sensitivity and specificity, decreasing their affinity for the proteins of interest and resulting in suboptimal protein capture.

Kara Rogers