Precision omics data integration and analysis with interoperable ontologies and their application for COVID-19 research

Omics technologies are widely used in biomedical research. Precision medicine focuses on individual-level disease treatment and prevention. Here, we propose the usage of the term `precision omics' to represent the combinatorial strategy that applies omics to translate large-scale molecular omics data for precision disease understanding and accurate disease diagnosis, treatment and prevention. Given the complexity of both omics and precision medicine, precision omics requires standardized representation and integration of heterogeneous data types. Ontology has emerged as an important artificial intelligence component to become critical for standard data and metadata representation, standardization and integration. To support precision omics, we propose a precision omics ontology hypothesis, which hypothesizes that the effectiveness of precision omics is positively correlated with the interoperability of ontologies used for data and knowledge integration. Therefore, to make effective precision omics studies, interoperable ontologies are required to standardize and incorporate heterogeneous data and knowledge in a human- and computer-interpretable manner. Methods for efficient development and application of interoperable ontologies are proposed and illustrated. With the interoperable omics data and knowledge, omics tools such as OmicsViz can also be evolved to process, integrate, visualize and analyze various omics data, leading to the identification of new knowledge and hypotheses of molecular mechanisms underlying the outcomes of diseases such as COVID-19. Given extensive COVID-19 omics research, we propose the strategy of precision omics supported by interoperable ontologies, accompanied with ontology-based semantic reasoning and machine learning, leading to systematic disease mechanism understanding and rational design of precision treatment and prevention.

Automated summary

Precision omics, which combines omics technologies with precision medicine, focuses on using standardized and interoperable ontologies to translate large-scale molecular omics data for accurate disease diagnosis, treatment, and prevention. The effectiveness of precision omics is positively correlated with the interoperability of ontologies used for data and knowledge integration, requiring efficient methods for developing and applying interoperable ontologies. Through interoperable omics data and knowledge, precision tools like OmicsViz can be enhanced to identify new knowledge and hypotheses for diseases like COVID-19.