@conference {ICBO_2018_47,
	title = {ICBO_2018_47: On the statistical sensitivity of semantic similarity metrics},
	booktitle = {International Conference on Biomedical Ontology (ICBO 2018)},
	series = {Proceedings of the International Conference on Biological Ontology (2018)},
	year = {2018},
	month = {08/06/2018},
	publisher = {International Conference on Biological Ontology},
	organization = {International Conference on Biological Ontology},
	abstract = {<p>Measuring the semantic similarity between objects that have been annotated with ontological terms is fundamental to an increasing number of biomedical applications, and several different ontologically-aware semantic similarity metrics are in common use. In some of these applications, only weak semantic similarity is expected for biologically meaningful matches. In such cases, it is important to understand the limits of sensitivity for these metrics, beyond which biologically meaningful matches cannot be reliably distinguished from noise. Here, we present a statistical sensitivity comparison of five common semantic similarity metrics (Jaccard, Resnik, Lin, Jiang \&amp; Conrath, and Hybrid Relative Specificity Similarity) representing three different kinds of metrics (Edge based, Node based, and Hybrid) and four different methods of aggregating individual annotation similarities to estimate similarity between two biological objects - All Pairs, Best Pairs, Best Pairs Symmetric, and Groupwise. We explore key parameter choices that can impact sensitivity. To evaluate sensitivity in a controlled fashion, we explore two different models for simulating data with varying levels of similarity and compare to the noise distribution using resampling. Source data are derived from the Phenoscape Knowledgebase of evolutionary phenotypes. Our results indicate that the choice of similarity metric, along with different parameter choices, can substantially affect sensitivity. Among the five metrics evaluated, we find that Resnik similarity shows the greatest sensitivity to weak semantic similarity. Among the ways to combine pairwise statistics, the Groupwise approach provides the greatest discrimination among values above the sensitivity threshold, while the Best Pairs statistic can be parametrically tuned to provide the highest sensitivity. Our findings serve as a guideline for an appropriate choice and parameterization of semantic similarity metrics, and point to the need for improved reporting of the statistical significance of semantic similarity matches in cases where weak similarity is of interest.</p>
},
	keywords = {annotation granularity, curation, Ontology, phenotype, semantic similarity},
	url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_47.pdf },
	author = {Prashanti Manda and Todd Vision}
}
@conference {ICBO_2018_62,
	title = {ICBO_2018_62: Reasoning over anatomical homology in the Phenoscape KB},
	booktitle = {International Conference on Biomedical Ontology (ICBO 2018)},
	series = {Proceedings of the International Conference on Biological Ontology (2018)},
	year = {2018},
	month = {08/06/2018},
	publisher = {International Conference on Biological Ontology},
	organization = {International Conference on Biological Ontology},
	abstract = {<p>The Phenoscape project (www.phenoscape.org) has semantically annotated the features of species from the comparative literature, enabling links between candidate genes and novel species phenotypes for which they might be responsible. To enable discovery of homologous phenotypes and associated genes, we incorporated machine-reasoning with knowledge about homology into the Phenoscape Knowledgebase (KB). We show that with homology reasoning enabled, the results of database queries can be expanded to incorporate shared evolutionary history. We discuss the challenges in developing a logical model of homology assertions and implications for database queries, as well as theoretical entailment and practical performance tradeoffs between alternative models.</p>
},
	keywords = {anatomy ontology, evolution, homology, phenotypes, reasoning},
	url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_62.pdf },
	author = {Paula Mabee and James Balhoff and Wasila Dahdul and Hilmar Lapp and Christopher Mungall and Todd Vision}
}
