@conference {IT605, title = {IT605: SEPIO: A Semantic Model for the Integration and Analysis of Scientific Evidence}, booktitle = {International Conference on Biomedical Ontology and BioCreative (ICBO BioCreative 2016)}, series = {Proceedings of the Joint International Conference on Biological Ontology and BioCreative (2016)}, year = {2016}, month = {11/30/16}, publisher = {CEUR-ws.org Volume 1747}, organization = {CEUR-ws.org Volume 1747}, abstract = {

The Scientific Evidence and Provenance Information Ontology (SEPIO) was developed to support the description of evidence and provenance information for scientific claims. The core model represents the relationships between claims, their lines of evidence, and the data items that comprise this evidence, as well as the methods, tools, and agents involved in the creation of these artifacts. SEPIO was initially developed to support the data integration and analysis efforts of the Monarch Initiative, where it provides a unified and computable representation of evidence and provenance metadata for genotype-phenotype associations aggregated across diverse model organism and clinical genetics databases. However, additional requirements were collected from diverse community partners in an effort to provide a shared community standard, with a core model that is domain independent and extensible to represent any type of claim and its associated evidence. In this report we describe the structure and principles behind the SEPIO model, and review its applications in support of data integration, curation, knowledge discovery, and manual and computational evaluation of scientific claims. The SEPIO ontology can be found at http://github.com/monarch-initiative/SEPIO-ontology/blob/master/src/ontology/sepio.owl.

}, url = {http://ceur-ws.org/Vol-1747/IT605_ICBO2016.pdf}, author = {Matthew Brush and Kent Shefchek and Melissa Haendel} } @conference {IT402, title = {IT402: Enhancing the Human Phenotype Ontology for Use by the Layperson}, booktitle = {International Conference on Biomedical Ontology and BioCreative (ICBO BioCreative 2016)}, series = {Proceedings of the Joint International Conference on Biological Ontology and BioCreative (2016)}, year = {2016}, month = {11/30/16}, publisher = {CEUR-ws.org Volume 1747}, organization = {CEUR-ws.org Volume 1747}, abstract = {

In rare or undiagnosed diseases, physicians rely upon genotype and phenotype information in order to compare abnormalities to other known cases and to inform diagnoses. Patients are often the best sources of information about their symptoms and phenotypes. The Human Phenotype Ontology (HPO) contains over 12,000 terms describing abnormal human phenotypes. However, the labels and synonyms in the HPO primarily use medical terminology, which can be difficult for patients and their families to understand. In order to make the HPO more accessible to non-medical experts, we systematically added new synonyms using non-expert terminology (i.e., layperson terms) to the existing HPO classes or tagged existing synonyms as layperson. As a result, the HPO contains over 6,000 classes with layperson synonyms.

}, url = {http://ceur-ws.org/Vol-1747/IT402_ICBO2016.pdf}, author = {Nicole Vasilevsky and Mark Engelstad and Erin Foster and Chris Mungall and Peter Robinson and Sebastian K{\"o}hler and Melissa Haendel} } @conference {IP32, title = {IP32: Enhancing SciENcv through semantic research profile integration with the VIVO-ISF ontology}, booktitle = {International Conference on Biomedical Ontology and BioCreative (ICBO BioCreative 2016)}, series = {Proceedings of the Joint International Conference on Biological Ontology and BioCreative (2016)}, year = {2016}, month = {11/30/16}, publisher = {CEUR-ws.org Volume 1747}, organization = {CEUR-ws.org Volume 1747}, abstract = {

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}, url = {http://ceur-ws.org/Vol-1747/IP32_ICBO2016.pdf}, author = {Marijane White and Matthew Brush and Shahim Essaid and Robin Champieux and Adrienne Zell and Melissa Haendel and Colin Grove and Syeda Momina Tabish and David Eichmann} } @conference {IP08, title = {IP08: Gold-Standard Ontology-Based Annotation of Concepts in Biomedical Text in the CRAFT Corpus: Updates and Extensions}, booktitle = {International Conference on Biomedical Ontology and BioCreative (ICBO BioCreative 2016)}, series = {Proceedings of the Joint International Conference on Biological Ontology and BioCreative (2016)}, year = {2016}, month = {11/30/16}, publisher = {CEUR-ws.org Volume 1747}, organization = {CEUR-ws.org Volume 1747}, abstract = {

Ontologies are increasingly used for semantic integration across disparate curated biomedical resources, while gold-standard annotated corpora are needed for accurate training and evaluation of text-mining tools. Bringing together the respective power of these, we created the Colorado Richly Annotated Full-Text (CRAFT) Corpus, a collection of full-length, open-access biomedical journal articles that have been manually annotated both syntactically and semantically with select Open Biomedical Ontologies (OBOs), the first release of which includes \ 100,000 annotations of concepts mentioned in the text of 67 articles and mapped to the classes of eight prominent OBOs. Here we present our continuing work on the corpus, including updated versions of these annotations with newer versions of the ontologies, new annotations made with two additional OBOs, annotations made with newly created extension classes defined in terms of existing classes of the ontologies, and new annotations of roots of prefixed and suffixed words.

}, url = {http://ceur-ws.org/Vol-1747/IP08_ICBO2016.pdf}, author = {Michael Bada and Nicole Vasilevsky and Melissa Haendel and Lawrence Hunter} } @conference {IP06, title = {IP06: Building a molecular glyco-phenotype ontology to decipher undiagnosed diseases}, booktitle = {International Conference on Biomedical Ontology and BioCreative (ICBO BioCreative 2016)}, series = {Proceedings of the Joint International Conference on Biological Ontology and BioCreative (2016)}, year = {2016}, month = {11/30/16}, publisher = {CEUR-ws.org Volume 1747}, organization = {CEUR-ws.org Volume 1747}, abstract = {

Hundreds of rare diseases are due to mutation on genes related to glycans synthesis, degradation or recognition. These glycan-related defects are well described in the literature but largely absent in ontologies and databases of chemical entities and phenotypes, limiting the application of computational methods and ontology-driven tools for characterization and discovery of glycan related diseases. We are curating articles and textbooks in glycobiology related to genetic diseases to inform the content and the structure of an ontology of Molecular Glyco-Phenotypes (MGPO). MGPO will be applied toward use cases including disease diagnosis and disease gene candidate prioritization, using semantic similarity and pattern matching at the glycan level with glycomics data from patient of the Undiagnosed Diseases Network.

}, url = {http://ceur-ws.org/Vol-1747/IP06_ICBO2016.pdf}, author = {Jean-Philippe Gourdine and Thomas Metz and David Koeller and Matthew Brush and Melissa Haendel} }