@conference {ICBO_2018_29,
	title = {ICBO_2018_29: Graph Summary of Ontology-based Annotations},
	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 = {It is desirable to learn about gene function in ever more detail and to communicate the information using the vocabularies of ontologies. However, rich annotations can exacerbate the challenge of intuitive comprehension of that complex knowledge by a human. We developed a graph-based tool called SObA (Summary of Ontology-based Annotations) to simplify and summarize complex annotations while allowing users to drill down into details easily by following the graph paths.In contrast to fixed-category summaries, such as ribbons or slims, for SObA, ontology graphs are trimmed dynamically, strictly dictated by available annotations. By following a set of simple rules, any node and path in the graph that is redundant or less informative is removed. Furthermore, visual cues to important nodes are provided by node color and size, which are determined by the type and amount of annotations. The SObA graph was implemented using the Cytoscape Javascript library, making it easy for users to traverse the graph at multiple levels of detail.SObA can be applied on any annotations that use DAG (directed acyclic graph) ontologies. We have implemented it on C. elegans phenotype annotations and on Gene Ontology annotations of many species. We are exploring the feasibility of applying SObA to summarize annotations of post-composed ontologies such as the mammalian phenotype ontology.},
	keywords = {DAG, GO, Ontology, phenotype, summary graph},
	url = {http://icbo2018.cgrb.oregonstate.edu/},
	author = {Raymond Lee and Juancarlos Chan and Christian Grove and Paul Sternberg}
}
@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_67,
	title = {ICBO_2018_67: Vocabularies, Ontologies, APIs, and Formats for Heterogeneous High Throughput Crop Phenotyping Data},
	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 = {The automation of sensors to measure crops is rapidly increasing in the size and complexity of the data that are available to scientists. The higher resolution, frequency, and diversity of information can enable new scientific discoveries and engineering approaches required to increase the efficiency and sustainability of our agricultural production systems. However, the size and complexity of these data makes it difficult to derive insights and actionable inference. These data often require contextual metadata including plant taxonomy, soil and weather, and agronomic and experimental conditions. While it is easy to agree on the principles of making data FAIR (findable, accessible, interoperable and reusable), it is a more substantial challenge to engineer such data in the absence of clear guidance. The landscape of standards, formats, vocabularies, and ontologies (hereafter, interfaces) that exist is difficult to navigate, and comprehensive specifications that cover the scope of crop phenotyping data are absent. Existing standards and conventions provide only a patchwork of coverage, making it difficult to standardize software and data interfaces. The TERRA Reference phenotyping platform (TERRA REF) is building a suite of open data and software to support advances in the use of crop sensing for breeding and precision agriculture. Although our data are large and diverse, we seek to make it FAIR, useful, and usable to the community of users who represent many science and engineering domains, including computer science, robotics, physics, and biology. This talk will describe our effort to identify, prioritize, and implement interfaces to these data, our efforts to build a community around shared data and software, and our focus on supporting existing software pipelines. It will conclude with a request for feedback on the role of ontologies can play in building a coherent interface to heterogeneous data.},
	keywords = {APIs, Crop Plants, Environment, High Throughput Crop Phenotyping, High Throughput Phenotyping, Ontology, phenotype},
	url = {http://icbo2018.cgrb.oregonstate.edu/},
	author = {David LeBauer and Craig Willis}
}
@conference {ICBO_2018_69,
	title = {ICBO_2018_69: An (ontological) patient perspectiv},
	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 = {The Human Phenotype Ontology (HPO) has become the de facto standard representation of clinical {\textquotedblleft}deep phenotype{\textquotedblright} data for computational comparison of abnormalities and for use in genetic disease diagnostics. Using semantic similarity methods, the HPO is used to match non-exact sets of phenotypic features against known diseases, other patients, and model organisms. Algorithms based on HPO have been implemented into variant prioritization tools and are used by the 100,000 Genomes project, the NIH Undiagnosed Diseases Program/Network, and many other clinics, labs, tools, and databases. However, patient phenotypes can be laborious to capture adequately, and some phenotypes go unnoticed by the clinician (such as those only seen at home). Patients themselves are an eager and untapped source of information about symptoms and phenotypes, however, medical terminology is often perplexing to them, making it difficult to use resources like the HPO. Therefore, to support use of the HPO by patients directly, we have created a {\textquoteleft}layperson{\textquoteright} translation. Approximately 36\% of the HPO terms have at least one layperson synonym, 89\% of the diseases annotated to HPO have at least one HPO annotation with a layperson synonym, and 60\% of all disease annotations refer to HPO terms with lay translations. This coverage suggests that the layperson HPO would be useful in a diagnostic setting despite incomplete coverage. To evaluate the diagnostic utility of this lay translation, we created synthetic profiles ({\textquotedblleft}slim annotations{\textquotedblright}) for each annotated disease in the MONDO disease ontology and compared these slim annotations against the gold standard curated set. We also permuted these profiles by adding or removing annotations to determine how robust the lay annotation profiles might be in the face of missing or noisy data coming from patients. In order to evaluate the lay person profiles, we measured the semantic similarity between HPO gold standard annotations and the derived profiles (with and without noise added). 57\% of profiles scored 80\% similarity or higher, and 75\% of profiles scored 70\% similarity or higher. These results highlight the potential impact that the use of a patient-centered ontology view may have in clinical diagnostics for rare disease patients.},
	keywords = {Medicine, Personalized medicine, phenotype, Translational science},
	url = {http://icbo2018.cgrb.oregonstate.edu/},
	author = {Melissa Haendel and Nicole Vasilevsky and Kayli Rageth and Sebastian Koehler and Peter Robinson and Julie McMurry and Kent Shefchek and Catherine Brownstein and Ingrid Holm and Chris Mungall}
}
@conference {ICBO_2018_8,
	title = {ICBO_2018_8: Using Equivalence Axioms from the Mammalian Phenotype Ontology to Facilitate Phenotype and Expression Comparisons},
	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>Comparisons of expression and phenotypes associated with a gene can enhance the understanding of gene function. These comparisons can be difficult to make due to differences in the ontologies used to annotate the data. Using equivalence axioms in the Mammalian Phenotype (MP) ontology and mappings between Uber-anatomy (UBERON) and EMAPA terms MGI has implemented gene expression + phenotype comparison matrices for genes in MGI. These matrices used the shared anatomical concepts between expression and phenotype ontologies to facilitate comparisons between annotations in these two domains.</p>
},
	keywords = {expression, mouse, phenotype},
	url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_8.pdf },
	author = {Susan Bello and Terry Hayamizu and Cynthia Smith and Martin Ringwald and The Mgi Software Group}
}
