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

Using Manual and Computer-Based Text-Mining to Uncover Research Trends for Apis mellifera

Honey bee research is believed to be influenced dramatically by colony collapse disorder (CCD) and the sequenced genome release in 2006, but this assertion has never been tested. By employing text-mining approaches, research trends were tested by analyzing over 14,000 publications during the period of 1957 to 2017. Quantitatively, the data revealed an exponential growth until 2010 when the number of articles published per year ceased following the trend. Analysis of author-assigned keywords revealed that changes in keywords occurred roughly every decade with the most fundamental change in 1991–1992, instead of 2006. This change might be due to several factors including the research intensification on the Varroa mite. The genome release and CCD had quantitively only minor effects, mainly on honey bee health-related topics post-2006. Further analysis revealed that computational topic modeling can provide potentially hidden information and connections between some topics that might be ignored in author-assigned keywords

Annotation of phenotypes using ontologies:a gold standard for the training and evaluation of natural language processing systems

Natural language descriptions of organismal phenotypes, a principal object of study in biology, are abundant in the biological literature. Expressing these phenotypes as logical statements using ontologies would enable large-scale analysis on phenotypic information from diverse systems. However, considerable human effort is required to make these phenotype descriptions amenable to machine reasoning. Natural language processing tools have been developed to facilitate this task, and the training and evaluation of these tools depend on the availability of high quality, manually annotated gold standard data sets. We describe the development of an expert-curated gold standard data set of annotated phenotypes for evolutionary biology. The gold standard was developed for the curation of complex comparative phenotypes for the Phenoscape project. It was created by consensus among three curators and consists of entity-quality expressions of varying complexity. We use the gold standard to evaluate annotations created by human curators and those generated by the Semantic CharaParser tool. Using four annotation accuracy metrics that can account for any level of relationship between terms from two phenotype annotations, we found that machine-human consistency, or similarity, was significantly lower than inter-curator (human-human) consistency. Surprisingly, allowing curatorsaccess to external information did not significantly increase the similarity of their annotations to the gold standard or have a significant effect on inter-curator consistency. We found that the similarity of machine annotations to the gold standard increased after new relevant ontology terms had been added. Evaluation by the original authors of the character descriptions indicated that the gold standard annotations came closer to representing their intended meaning than did either the curator or machine annotations. These findings point toward ways to better design software to augment human curators and the use of the gold standard corpus will allow training and assessment of new tools to improve phenotype annotation accuracy at scale

AgBase: supporting functional modeling in agricultural organisms

AgBase (http://www.agbase.msstate.edu/) provides resources to facilitate modeling of functional genomics data and structural and functional annotation of agriculturally important animal, plant, microbe and parasite genomes. The website is redesigned to improve accessibility and ease of use, including improved search capabilities. Expanded capabilities include new dedicated pages for horse, cat, dog, cotton, rice and soybean. We currently provide 590 240 Gene Ontology (GO) annotations to 105 454 gene products in 64 different species, including GO annotations linked to transcripts represented on agricultural microarrays. For many of these arrays, this provides the only functional annotation available. GO annotations are available for download and we provide comprehensive, species-specific GO annotation files for 18 different organisms. The tools available at AgBase have been expanded and several existing tools improved based upon user feedback. One of seven new tools available at AgBase, GOModeler, supports hypothesis testing from functional genomics data. We host several associated databases and provide genome browsers for three agricultural pathogens. Moreover, we provide comprehensive training resources (including worked examples and tutorials) via links to Educational Resources at the AgBase website

Evolution of anatomical concept usage over time: Mining 200 years of biodiversity literature

The scientific literature contains an historic record of the changing ways in which we describe the world. Shifts in understanding of scientific concepts are reflected in the introduction of new terms and the changing usage and context of existing ones. We conducted an ontology-based temporal data mining analysis of biodiversity literature from the 1700s to 2000s to quantitatively measure how the context of usage for vertebrate anatomical concepts has changed over time. The corpus of literature was divided into nine non-overlapping time periods with comparable amounts of data and context vectors of anatomical concepts were compared to measure the magnitude of concept drift both between adjacent time periods and cumulatively relative to the initial state. Surprisingly, we found that while anatomical concept drift between adjacent time periods was substantial (55% to 68%), it was of the same magnitude as cumulative concept drift across multiple time periods. Such a process, bound by an overall mean drift, fits the expectations of a mean-reverting process

Guide to Character Annotation

<p>The document lists a set of annotation guidelines for phenotypic character annotation. These guidelines were developed for curators as a reference for the Phenoscape (http://kb.phenoscape.org/) curation experiment to promote better consistency between curators. </p

phenoscape-owl-tools: Release 1.3

<p>OWL-based reasoning and data processing utilities for assembling the Phenoscape Knowledgebase.</p