Ontology-based knowledge representation of experiment metadata in biological data mining

According to the PubMed resource from the U.S. National Library of Medicine, over 750,000 scientific articles have been published in the ~5000 biomedical journals worldwide in the year 2007 alone. The vast majority of these publications include results from hypothesis-driven experimentation in overlapping biomedical research domains. Unfortunately, the sheer volume of information being generated by the biomedical research enterprise has made it virtually impossible for investigators to stay aware of the latest findings in their domain of interest, let alone to be able to assimilate and mine data from related investigations for purposes of meta-analysis. While computers have the potential for assisting investigators in the extraction, management and analysis of these data, information contained in the traditional journal publication is still largely unstructured, free-text descriptions of study design, experimental application and results interpretation, making it difficult for computers to gain access to the content of what is being conveyed without significant manual intervention. In order to circumvent these roadblocks and make the most of the output from the biomedical research enterprise, a variety of related standards in knowledge representation are being developed, proposed and adopted in the biomedical community. In this chapter, we will explore the current status of efforts to develop minimum information standards for the representation of a biomedical experiment, ontologies composed of shared vocabularies assembled into subsumption hierarchical structures, and extensible relational data models that link the information components together in a machine-readable and human-useable framework for data mining purposes

Novel Algorithms for Cross-Ontology Multi-Level Data Mining

The wide spread use of ontologies in many scientific areas creates a wealth of ontologyannotated data and necessitates the development of ontology-based data mining algorithms. We have developed generalization and mining algorithms for discovering cross-ontology relationships via ontology-based data mining. We present new interestingness measures to evaluate the discovered cross-ontology relationships. The methods presented in this dissertation employ generalization as an ontology traversal technique for the discovery of interesting and informative relationships at multiple levels of abstraction between concepts from different ontologies. The generalization algorithms combine ontological annotations with the structure and semantics of the ontologies themselves to discover interesting crossontology relationships. The first algorithm uses the depth of ontological concepts as a guide for generalization. The ontology annotations are translated to higher levels of abstraction one level at a time accompanied by incremental association rule mining. The second algorithm conducts a generalization of ontology terms to all their ancestors via transitive ontology relations and then mines cross-ontology multi-level association rules from the generalized transactions. Our interestingness measures use implicit knowledge conveyed by the relation semantics of the ontologies to capture the usefulness of cross-ontology relationships. We describe the use of information theoretic metrics to capture the interestingness of cross-ontology relationships and the specificity of ontology terms with respect to an annotation dataset. Our generalization and data mining agorithms are applied to the Gene Ontology and the postnatal Mouse Anatomy Ontology. The results presented in this work demonstrate that our generalization algorithms and interestingness measures discover more interesting and better quality relationships than approaches that do not use generalization. Our algorithms can be used by researchers and ontology developers to discover inter-ontology connections. Additionally, the cross-ontology relationships discovered using our algorithms can be used by researchers to understand different aspects of entities that interest them