@conference {ICBO_2018_12, title = {ICBO_2018_12: Transforming and Unifying Research with Biomedical Ontologies: The Penn TURBO project}, 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 Penn TURBO (Transforming and Unifying Research with Biomedical Ontologies) project aims to accelerate finding and connecting key information from clinical records for research through semantic associations to the processes that generated the clinical data. Major challenges to using clinical data for research are integrating data from different sources which may contain multiple references to the same entity (e.g., person, health care encounter) and incomplete or conflicting information (e.g., gender, BMI). There is also the need to track the provenance of information used when making decisions on what is the actual phenotype of a person. We take a realism-based ontology approach to address these problems through transformation and instantiation of clinical data with an OBO-Foundry based application ontology in a semantic graph database. We have developed an application stack and used it on an 11,237 whole exome sequencing patient cohort capturing key demographics, diagnosis codes, and prescribed medications. The anticipated payoff is to be able to make use of inferencing provided by the semantics to classify and search for instances of people and specimens with desired characteristics.

}, keywords = {clinical data, diagnosis codes, OBO Foundry, prescriptions, realism-based ontology, referent tracking}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_12.pdf}, author = {Christian Stoeckert and David Birtwell and Hayden Freedman and Mark Miller and Heather Williams} } @conference {ICBO_2018_13, title = {ICBO_2018_13: The Identity and Mereology of Pathological Dispositions}, 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 = {

Diseases, risks of pathological processes and predispositions have been formalized as dispositions. The relations between those pathological dispositions, however, remain unclear. We apply here a recently developed theory of mereology and identity among dispositions to analyze such relations. In particular, we show how a framework for the identity of disposition leads to a disease being not only a disposition to a disease course, but also to each pathological process; how it avoids risk multiplicativism; and how a predisposition can be identified with a risk whose estimated probability is higher than for the risk of a reference class. We discuss how this makes predisposition always relative to a reference class, to a time-frame and to sources of risk estimates; and we clarify the nature of risk factors.

}, keywords = {disease, disposition, identity, mereology, predisposition, risk, risk factor}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_13.pdf}, author = {Adrien Barton and Olivier Grenier and Jean-Francois Ethier} } @conference {ICBO_2018_18, title = {ICBO_2018_18: Taking a Dive: Experiments in Deep Learning for Automatic Ontology-based Annotation of Scientific Literature}, 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 = {

Text mining approaches for automated ontology-based curation of biological and biomedical literature have largely focused on syntactic and lexical analysis along with machine learning. Recent advances in deep learning have shown increased accuracy for textual data annotation. However, the application of deep learning for ontology-based curation is a relatively new area and prior work has focused on a limited set of models. Here, we introduce a new deep learning model/architecture based on combining multiple Gated Recurrent Units (GRU) with a character+word based input. We use data from five ontologies in the CRAFT corpus as a Gold Standard to evaluate our model{\textquoteright}s performance. We also compare our model to seven models from prior work. We use four metrics - Precision, Recall, F1 score, and a semantic similarity metric (Jaccard similarity) to compare our model{\textquoteright}s output to the Gold Standard. Our model resulted in 84\% Precision, 84\% Recall, 83\% F1, and 84\% Jaccard similarity. Results show that our GRU-based model outperforms prior models across all five ontologies. We also observed that character+word inputs result in a higher performance across models as compared to word only inputs. These findings indicate that deep learning algorithms are a promising avenue to be explored for automated ontology-based curation of data. This study also serves as a formal comparison and guideline for building and selecting deep learning models and architectures for ontology-based curation.

}, keywords = {automated curation, deep learning, named entity recognition, natural language processing, Ontology}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_18.pdf }, author = {Prashanti Manda and Lucas Beasley and Somya Mohanty} } @conference {ICBO_2018_2, title = {ICBO_2018_2: Adapting Disease Vocabularies for Curation at the Rat Genome Database}, 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 Rat Genome Database (RGD) has been annotating genes, QTLs, and strains to disease terms for over 15 years. During that time the controlled vocabulary used for disease curation has changed a few times. The changes were necessitated because no single vocabulary or ontology was freely accessible and complete enough to cover all of the disease states described in the biomedical literature. The first disease vocabulary used at RGD was the {\textquotedblleft}C{\textquotedblright} branch of the National Library of Medicine{\textquoteright}s Medical Subject Headings (MeSH). By 2011 RGD had switched disease curation to the use of MEDIC (MErged DIsease voCabulary), which is a combination of MeSH and OMIM (Online Mendelian Inheritance in Man) constructed by curators at the Comparative Toxicogenomics Database (CTD). MEDIC was an improvement over MeSH, because of the added coverage of OMIM terms, but it was not long before RGD curators saw the need for more disease terms. So within a couple of years, RGD began to add terms to MEDIC under the guise of the RGD Disease Ontology (RDO). Since RGD assigned a unique ID to every MEDIC term imported from CTD, it was easy to add specially coded IDs to indicate those additional terms from a separate, supplemental file. Meanwhile, the human disease ontology (DO) had slowly been developing and expanding. As early as 2010, members of RGD were contributing to the development of DO. Based on the promise of improvements, it was determined that the Alliance of Genome Resources could use the DO as a unifying disease vocabulary across model organism databases. Despite the improvements in DO, RGD still had more than 1000 custom terms and 3800 MEDIC terms with annotations to deal with if RGD would convert to the use of DO. If RGD mapped those non-DO disease terms to DO, much granularity of meaning would be lost. To avoid the loss of granularity it was decided to extend the DO after import of the merged, already axiomized DO file. So after mapping DO completely to the RGD version of MEDIC, a broader, deeper disease vocabulary has been achieved.

}, keywords = {curation, disease vocabularies, online resource, Rat Genome Database}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_2.pdf }, author = {Stan Laulederkind and G. Thomas Hayman and Shur-Jen Wang and Elizabeth Bolton and Jennifer R. Smith and Marek Tutaj and Jeff de Pons and Mary Shimoyama and Melinda Dwinell} } @conference {ICBO_2018_26, title = {ICBO_2018_26: Multi-species Malformation Ontologies}, 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 = {

In the Ontology of Craniofacial Development and Malformation (OCDM) [1] we created malformation ontologies for the human (Craniofacial Human Malformation Ontology [CHMO]), the mouse (Craniofacial Mouse Malformation Ontology [CMMO]) and the zebrafish (Craniofacial Zebrafish Malfomration Ontology [CZMO]) to comprehensively represent in all three species the different pathological entities involved in cranial dysmorphologies, and in particular, the phenotypic and genotypic abnormalities associated with craniofacial microsomias and their correlation to normal and canonical anatomical entities and their corresponding embryological development.

}, keywords = {craniofacial, malformation, Ontology}, author = {Jose Leonardo Mejino and Landon Detwiler and Timothy Cox and Michael Cunningham and James Brinkley} } @conference {ICBO_2018_28, title = {ICBO_2018_28: KTAO: A kidney tissue atlas ontology to support community-based kidney knowledge base development and data integration}, 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 = {

Human kidney has its complex structure and diverse interactions among its cells during homeostasis and in its diseased states. To systematically classify, represent, and integrate kidney gene activity, cell types, cell states, and interstitial components, we developed a Kidney Tissue Atlas Ontology (KTAO). KTAO reuses and aligns with existing ontologies such as the Cell Ontology, UBERON, and Human Phenotype Ontology. KTAO also generates new semantic axioms to logically link terms of entities in different domains. As a first study, KTAO represents over 200 known kidney gene markers and their profiles in different cell types in kidney patients. Such a representation supports kidney knowledge base generation, query, and data integration.

}, keywords = {AKI, atlas, CKD, disease, gene marker, Kidney, KTAO, Ontology}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_28.pdf }, author = {Yongqun He and Becky Steck and Edison Ong and Laura Mariani and Chrysta Lienczewski and Ulysses Balis and Matthias Kretzler and Jonathan Himmelfarb and John F. Bertram and Evren Azeloglu and Ravi Iyengar and Deborah Hoshizaki and Sean D. Mooney} } @conference {ICBO_2018_3, title = {ICBO_2018_3: Ontology based data architecture to promote data sharing in electrophysiology}, 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 = {

Efforts to improve the preservation, searchability, and discoverability of research data are a priority. To facilitate these efforts in cell electrophysiology and biophysics we propose that ontologies be used to design and annotate data, as they provide a substantive metadata structure, with reasoned definitions arranged in a logical, hierarchal structure where the meaning of data are unambiguously assigned. We illustrate this by describing our cell electrophysiology data with an ontology. We then make this hierarchal structure with definitions the basis of the data architecture which is implemented upon transforming the data into the storage format: Hierarchical Data Format version 5 (HDF5).

}, keywords = {auditory, data management, HDF5, outer hair cell}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_3.pdf }, author = {Brenda Farrell and Jason Bengtson} } @conference {ICBO_2018_32, title = {ICBO_2018_32: Ontolobridge {\textendash} A Semi-Automated Ontology Update Request System for Better FAIR-ifying BioAssay Ontology, Drug Target Ontology, and LINCS Ontology}, 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 = {Ontologies are products that are becoming more relevant for data science as the need for standardized vocabulary and meta-data is increasing. However, if they want to stay relevant, ontologies have a constant need for evolving, especially in domains that involve dynamic data, like life-sciences data. Based on the need pointed out by domain experts for updating and/or requesting ontology terms while annotating BioAssay Protocols, we are developing a semi-automated technology that will allow users to request new terms and update existing ones easier. This need was pointed out by domain experts who are using CDD{\textquoteright}s new tool BioAssay Express (BAE). BAE allows users to annotate their bioassays in a semi-automated and standardized fashion using the highly-accessed ontologies (BioAssay Ontology (BAO), Gene Ontology (GO), Disease Ontology (DOID), and Drug Target Ontology (DTO) among others) in the background. Our goal in the Ontolobridge project is to help various users of BAE (researchers performing curation, dedicated curators, IT specialists, ontology owners, and librarians/repositories) request and update the existing vocabulary provided by BAO in a semi-automated way, with a user-friendly interface. Furthermore, APIs and tools including templates from CEDAR will be created in order to would allow users to request new ontology terms or changes to existing terms easily during the annotation process. In this way, we{\textquoteright}re aiming to increase the Findability, Interoperability, Accessibility, and Reproducibility (FAIR) of above mentioned ontologies and BioAssay Protocols better.}, keywords = {annotation, big data, BioAssay Express, BioAssay Ontology, CEDAR, FAIR, FAIR data, life sciences big data, ontology term request, semi-automated ontology updates}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Hande K{\"u}{\c c}{\"u}k-Mcginty and Alex Clark and John Graybeal and Daniel Cooper and John Turner and Michael Dorf and Mark Musen and Barry Bunin and Stephan Schurer} } @conference {ICBO_2018_36, title = {ICBO_2018_36: The New SNOMED CT International Medicinal Product Model}, 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 = {

Objectives. To present the new SNOMED CT international medicinal product model. Methods. We present the main elements of the model, with focus on types of entities and their interrelations, definitional attributes for clinical drugs, and categories of groupers. Results. We present the status of implementation as of July 2018 and illustrate differences between the original and new models through an example. Conclusions. Benefits of the new medicinal product model include comprehensive representation of clinical drugs, logical definitions with necessary and sufficient conditions for all medicinal product entities, better high-level organization through distinct categories of groupers, and compliance with international standards.

}, keywords = {knowledge representation, Medicinal products, SNOMED CT}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_36.pdf}, author = {Olivier Bodenreider and Julie James} } @conference {ICBO_2018_37, title = {ICBO_2018_37: Ontology-Enhanced Representations of Non-image Data in The Cancer Image Archive}, 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 Cancer Image Archive (TCIA) hosts over 11 million de-identified medical images related to cancer for research reuse. These are organized around DICOM-format radiological collections that are grouped by disease type, modality, or research focus. Many collections also include diverse non-image datasets in a variety of formats without a common approach to representing the entities that the data are about. This paper describes work to make these diverse non-image data more accessible and usable by transforming them into integrated semantic representations using Open Biomedical Ontologies, highlights obstacles encountered in the data, and presents detailed representations data found in select collections.

}, keywords = {Cancer, imaging, ontology development, semantics}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_37.pdf }, author = {Jonathan Bona and Tracy Nolan and Mathias Brochhausen} } @conference {ICBO_2018_38, title = {ICBO_2018_38: Expanding the Molecular Glycophenotype Ontology to include model organisms and acquired diseases}, 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 = {

Glycans are an underappreciated class of molecules despite the fact that they are implicated in more than 100 known diseases. We have developed an ontology model that captures glycan abnormalities at the molecular level (glycophenotypes) called the molecular glycophenotype ontology (MGPO). Only 30\% of known glycosyltransferases have been implicated in human genetic disorders of glycosylation. Ortholog glycosyltransferases from model organism can cover relevant biological information on potential human diseases. Thus, extending MGPO to represent additional phenotypes and support annotation of model organism data will help cross-species comparison. Expansion of MGPO will also include annotation of glycophenotypes from acquired diseases.

}, keywords = {diseases, glycans, glycobiology, glycophenotypes, model organisms., Ontology}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_38.pdf }, author = {Jean-Philippe Gourdine and Nicole Vasilevsky and Lilly Winfree and Matthew Brush and Melissa Haendel} } @conference {ICBO_2018_4, title = {ICBO_2018_4: Comparison of Natural Language Processing Tools for Automatic Gene Ontology Annotation of Scientific Literature}, 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 = {

Manual curation of scientific literature for ontology-based knowledge representation has proven infeasible and unscalable to the large and growing volume of scientific literature. Automated annotation solutions that leverage text mining and Natural Language Processing (NLP) have been developed to ameliorate the problem of literature curation. These NLP approaches use parsing, syntactical, and lexical analysis of text to recognize and annotate pieces of text with ontology concepts. Here, we conduct a comparison of four state of the art NLP tools at the task of recognizing Gene Ontology concepts from biomedical literature using the Colorado Richly Annotated Full-Text (CRAFT) corpus as a gold standard reference. We demonstrate the use of semantic similarity metrics to compare NLP tool annotations to the gold standard.

}, keywords = {curation, gene ontology, natural language processing, semantic similarity, text mining}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_4.pdf}, author = {Lucas Beasley and Prashanti Manda} } @conference {ICBO_2018_42, title = {ICBO_2018_42: ELIXIR Interoperability: Standardisation of identifiers, schemas, and ontologies for scientific communities}, 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 = {ELIXIR (https://www.elixir-europe.org) unites Europe{\textquoteright}s leading life science organisations in managing the increasing volume of data being generated by publicly funded research. ELIXIR operates in a Hub-Node model with the Hub coordinating the activities undertaken by the Nodes via five technical platforms: Compute, Data, Interoperability, Tools, and Training to build a sustainable and foundational framework for Life Science informatics communities. This is done by establishing strategic guidelines underlying scientific operations across ELIXIR{\textquoteright}s twenty-one Node members (as of May 2018). The ELIXIR Interoperability Platform (EIP) has been established to deal with the challenge of delivering Findable, Accessible, Interoperable, and Reusable (FAIR) data across the different levels of complexity and variety of life science data types: across the datasets, data catalogues, data tools and services; across the multitude of biological disciplines and geographical or organisational boundaries. The EIP aims to make available the services and resources needed to make data FAIR. These strategies will be founded on FAIR Principles. Ontologies are a crucial component of the EIP strategy, with OBO Foundry Ontologies recognised as reference resource, and leveraged through resources such as Ontology Lookup Service, which provides additional user services for search and annotation. EIP is currently engaged in addressing specific community-derived use cases where incorporating ontological information is essential: rare disease, marine metagenomics, and plant informatics. These require reference ontologies such as Human Phenotype Ontology (HP), Disease Ontology (DO), Cell Ontology (CL), and UBERON.}, keywords = {Bioschemas, FAIR, identifiers, Interoperability, linked-data, Ontology}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Sirarat Sarntivijai and Nick Juty and Carole Goble and Helen Parkinson and Chris Evelo and Jerry Lanfear and Niklas Blomberg} } @conference {ICBO_2018_46, title = {ICBO_2018_46: Standardizing Ontology Workflows Using ROBOT}, 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 = {

Building and maintaining ontologies can be challenging due to the need to automate a number of common tasks, such as running quality control checks, automatic classification using reasoners, generating standard reports, extracting application-specific subsets, and managing ontology dependencies. These workflows are in some aspects analogous to workflows used in software engineering as part of the normal product lifecycle. However, in contrast to software development, there is a lack of easy to use tooling to support the execution of these workflows for ontology developers

}, keywords = {automation, import management, ontology development, ontology release, OWL, quality control, reasoning, workflows}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_46.pdf }, author = {Rebecca Tauber and James Balhoff and Eric Douglass and Chris Mungall and James A. Overton} } @conference {ICBO_2018_50, title = {ICBO_2018_50: A Natural Language Processing Pipeline to extract phenotypic data from formal taxonomic descriptions with a Focus on Flagellate Plants}, 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 = {

Assembling large-scale phenotypic datasets for evolutionary and biodiversity studies of plants can be extremely difficult and time consuming. New semi-automated Natural Language Processing (NLP) pipelines can extract phenotypic data from taxonomic descriptions, and their performance can be enhanced by incorporating information from ontologies, like the Plant Ontology (PO) and the Plant Trait Ontology (TO). These ontologies are powerful tools for comparing phenotypes across taxa for large-scale evolutionary and ecological analyses, but they are largely focused on terms associated with flowering plants. We describe a bottom-up approach to identify terms from flagellate plants (including bryophytes, lycophytes, ferns, and gymnosperms) that can be added to existing plant ontologies. We first parsed a large corpus of electronic taxonomic descriptions using the Explorer of Taxon Concepts tool (http://taxonconceptexplorer.org/) and identified flagellate plant specific terms that were missing from the existing ontologies. We extracted new structure and trait terms, and we are currently incorporating the missing structure terms to the PO and modifying the definitions of existing terms to expand their coverage to flagellate plants. We will incorporate trait terms to the TO in the near future.

}, keywords = {flagellate plants, matrices, natural language processing, phenotypic traits, phylogeny, Plant Ontology, Plant Trait Ontology, taxonomic descriptions}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_50.pdf }, author = {Lorena Endara and Gordon Burleigh and Laurel Cooper and Pankaj Jaiswal and Marie-Ang{\'e}lique Laporte and Hong Cui} } @conference {ICBO_2018_53, title = {ICBO_2018_53: Visualization of gene expression and expression as a phenotype with the XPO, XAO and DO using a combination of experimental data sources}, 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 = {

Xenbase (www.xenbase.org) is a knowledge base for researchers and biomedical scientists that employ Xenopus (X. laevis and X. tropicalis) as a model organism in gaining a deeper understanding of developmental and disease processes. Through expert curation and automated data provisioning from various sources this MOD (model organism database) strives to integrate the Xenopus body of knowledge together with the visualization of biologically significant interactions. We present a vision for the usage of various ontologies that facilitate the visualization of gene expression from a combination of experimental data sources and the linking thereof back to human disease modeling. In keeping with the philosophy to foster greater insight through the use of visualization techniques that bring together data from different sources and show trends in the large body of experimental and curated data in Xenbase. The approach has been taken to represent key developmental stages and selected embryonic/adult tissue anatomy terms with a modified heat map rendering. This gives us the combined results from the in-situ gene expression summary as well as normalized TPM read counts (Sessions et al.) and UMI counts from the single cell experiment data (Peshkin et al.). Through the acquisition of RNA-seq and ChIP-seq Xenopus data from GEO and subsequent processing through a bioinformatics pipeline to obtain average TPM read counts and differential expression readings. This enables the subsequent construction and visualization of EaP (Expression as a Phenotype) in conjunction with the XPO (Xenopus Phenotype Ontology) and DO (Disease Ontoloty). This data manipulation has practical application in making the information accessible from gene pages and linking back to the source (eg:article/image). If you use Xenbase resources in your research please consider citing us, for example Nucleic Acids Res. 2018 46(D1):D861-D868.

}, keywords = {biocuration, gene expression, genomics, human disease modeling, model organism database, xenopus anatomy ontology, xenopus phenotype ontology}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_53.pdf }, author = {Troy Pells and Malcolm Fisher and Erik Segerdell and Joshua Fortriede and Kevin Burns and Stanley Chu and Praneet Chaturvedi and Christina James-Zorn and Vaneet Lotay and Mardi Nenni and V.G. Ponferrada and Dong Zhou Wang and Ying Wang and Kamran Karimi and Peter Vize and Aaron Zorn} } @conference {ICBO_2018_56, title = {ICBO_2018_56: Towards the Development of an Opioid Misuse Ontology}, 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 = {

Opioid abuse is a major health crisis in the United States, and it is imperative that patients on an abuse trajectory be identified early. Ontologies, with their semantic representations, provide an advantageous framework for use in early identification of opioid misusers. This paper discusses the early-stage development of the Opioid Misuse Ontology (OMO). Existing ontologies from Ontobee and NCBO Bioportal were reviewed. Data representation for opioid use and misuse was modeled using ontologies with terms from existing resources where possible. Several terms were identified that need to be created. Future directions for OMO include development of new classes, creation of an OWL artifact, publication for public comment, and trialing with electronic medical record data to determine how well it identifies opioid misusers.

}, keywords = {misuse, Ontology, opioids}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_56.pdf }, author = {Corey Hayes and Jonathan Bona and Mathias Brochhausen} } @conference {ICBO_2018_58, title = {ICBO_2018_58: Computational Classification of Phenologs Across Biological Diversity}, 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 = {

Phenotypic diversity analyses are the basis for research discoveries ranging from basic biology to applied research. Phenotypic analyses often benefit from the availability of large quantities of high-quality data in a standardized format. Image and spectral analyses have been shown to enable high-throughput, computational classification of a variety of phenotypes and traits. However, equivalent phenotypes expressed across individuals or groups that are not anatomically similar can pose a problem for such classification methods. In these cases, high-throughput, computational classification is still possible if the phenotypes are documented using standardized, language-based descriptions. Conversion of language-based phenotypes to computer-readable {\textquotedblleft}EQ{\textquotedblright} statements enables such large-scale analyses. EQ statements are composed of entities (e.g., leaf) and qualities (e.g., increased length) drawn from terms in ontologies. In this work, we present a method for automatically converting free-text descriptions of plant phenotypes to EQ statements using a machine learning approach. Random forest classifiers identify potential matches between phenotype descriptions and terms from a set of ontologies including GO (gene ontology), PO (plant ontology), and PATO (phenotype and trait ontology), among others. These candidate ontology terms are combined into candidate EQ statements, which are probabilistically evaluated with respect to a natural language parse of the phenotype description. Models and parameters in this method are trained using a dataset of plant phenotypes and curator-converted EQ statements from the Plant PhenomeNET project (Oellrich, Walls et al., 2015). Preliminary results comparing predicted and curated EQ statements are presented. Potential use across datasets to enable automated phenolog discovery are discussed.

}, keywords = {ontologies, phenologs, phenotypes, text mining}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_58.pdf }, author = {Ian Braun and Carolyn Lawrence-Dill} } @conference {ICBO_2018_59, title = {ICBO_2018_59: Coordinated Evolution of Ontologies of Informed Consent}, 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 = {

Our project brings together a number of OBO Foundry ontologies related to the representation of informed consent, and expands and enriches them, so that they may provide a representation of informed consent across the informed consent (IC) life cycle. The IC lifecycle involves not only documentation of the consent when originally obtained, but actions that require clear communication of permissions from the initial acquisition of data and specimens through handoffs to, for example, secondary researchers, allowing them access to data or biospecimens referenced in the terms of the original consent. This poster details the progress we have made in representing the domain of consent, as well as the future applications that such work can make possible.

}, keywords = {informed consent, informed consent life cycle, ontology collaboration, reference ontology}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_59.pdf }, author = {J. Neil Otte and Cooper Stansbury and Jonathan Vajda and Frank Manion and Elizabeth Umberfield and Yongqun He and Marcelline Harris and Jihad Obeid and Mathias Brochhausen and William Duncan and Cui Tao} } @conference {ICBO_2018_6, title = {ICBO_2018_6: PHO: The Pharmacognosy Ontology}, 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 discipline of pharmacognosy was named and defined in the early 19th century and consists primarily in the study of materia medica, or drugs. Its name, a derivation of the Greek pharmakon (medicine/drug) and ginosko (to know through experience) embraces a broad disciplinary range; current practice involves the investigation of natural products, the material produced by or derived from living organisms. It is a meta-discipline located at the frontiers of numerous sciences not limited to biology, chemistry, physics, and pharmacy. Pharmacognosy not only benefits from the technical and conceptual advances across these disciplines; it endows them with new study subjects and furnishes them with new tools and approaches. However, pharmacognosy has yet to articulate the diversity of its practices and procedures in a systematic, well-defined and logical manner, in suach a way as to participate in the lingua franca that ontologies can provide. Through the creation of a Pharmacognosy Ontology, we hope to contribute to this goal and consolidate the existing bridges between pharmacognosy and the many disciplines it is interacting with and thus contribute to a more profound understanding of the natural world.}, keywords = {meta-discipline ontology, natural product, pharmacognosy}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Jonathan Bisson and James Graham and Guido Pauli} } @conference {ICBO_2018_61, title = {ICBO_2018_61: Using the Oral Health and Disease Ontology to Study Dental Outcomes in National Dental PBRN Practices}, 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 use of electronic dental records (EDR) has grown rapidly over the past decade, but the development of methods to use EDR data for research and quality improvement is still in its infancy. In this poster, we present our work in which use the Oral Health and Disease Ontology to integrate EDR data from 99 National Dental PBRN practices in order to study the longevity of posterior composite restorations and the rate of tooth loss following root canal treatments.

}, keywords = {dental procedure, dental research, Ontology, posterior composite restoration, root canal treatment}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_61.pdf }, author = {William Duncan and Thankam Thyvalikakath and Zasim Siddiqui and Michelle LaPradd and Chen Wen and Jim Zheng and Anna Roberts and Daniel Hood and Titus Schleyer and Aparna Manimangalam and Donald Rindal and Mark Jurkovich and Tracy Shea and David Bogacz and Terrence Yu and Jeffry Fellows and Valerie Gordan and Gregg Gilbert} } @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 = {

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.

}, 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} } @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 {174, title = {ICBO_2018_75: ECOCORE: An ontology for core ecological concepts}, booktitle = {International Conference on Biomedical Ontology (ICBO 2018)}, year = {2018}, month = {08/06/2018}, publisher = {International Conference on Biological Ontology}, organization = {International Conference on Biological Ontology}, abstract = {

The ontologies in the biological and biomedical domain represent entities from a broad spectrum of the life sciences such as molecules, diseases, phenotypes, and environments. However, until now, ontologies representing ecological concepts, such as trophic modes like autotrophy and insectivory, have been missing. In response to the needs of aggregators such as the Encyclopedia of Life and DataONE, we have developed an ontology of core ecological concepts, ECOCORE. The initial focus of development for ECOCORE is trophic dynamics. An example demonstrating this initial focus is the autotroph class, which is a subclass of organism. It is equivalent to organism and ({\textquoteleft}capable of{\textquoteright} some autotrophy). Autotrophy is a process. ECOCORE development calls on classes from many OBO ontologies, but involves specifically important collaborations with the Environment Ontology, the Behavior Ontology, and the Relations Ontology. ECOCORE development is open to community participation at the GitHub site https://github.com/EcologicalSemantics/ecocore. This presentation will describe ECOCORE and show some of its uses.

}, keywords = {biodiversity, ecology, evolutionary biology, Ontology, ontology development, trophic dynamics}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Anne Thessen and Pier Luigi Buttigieg and Ramona Walls and Jennifer Verdolin and Katja Schulz} } @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 = {

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.

}, 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} }