Novel Integrative Bioinformatics Approaches to Biomedical Ontology Practice for Translational Informatics.

TL;DRAbstract

This study presents novel ontology-based approaches to solve biomedical problems raised from basic research to clinical data analysis. An ontology-based method that integrates basic and clinical data representation and analyses is critical for advanced translational informatics. This thesis demonstrates these capabilities in two case studies: 1) the Cell Line Ontology (CLO), and 2) the Ontology of Adverse Events (OAE). The Cell Line Knowledgebase (CLKB) was first created to analyze its nomenclature for data integration. CLO was built on CLKB based on the Open Biomedical Ontologies (OBO) Foundry principles. Cell lines in CLO are associated with terms from other ontologies such as Cell Type Ontology, and NCBI Taxonomy. Currently CLO contains over 36,000 cell lines. The OWL-based CLO is machine-readable and supports automated reasoning. CLO structure also allows for information storage of genetic signature that assists the process of cell line authentication. CLO consortium is initiated w

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