@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_14, title = {ICBO_2018_14: Does the Foundational Model of Anatomy ontology provide a knowledgebase for learning and assessment in anatomy education?}, 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 = {Throughout the development of the Foundational Model of Anatomy (FMA) ontology, one of the use cases has been anatomy education. In this work, we examine which types of knowledge taught to anatomy students can be supported by the FMA knowledge base. We first categorize types of anatomical knowledge, then express these patterns in the form {\textquotedblleft}Given ____, state ____{\textquotedblright}. Each of the 33 patterns was evaluated for whether this type of knowledge is compatible with the modeling and scope of the FMA.}, keywords = {anatomy, knowledge representation, medical education, nursing education, Ontology}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Melissa Clarkson and Mark Whipple} } @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_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_40, title = {ICBO_2018_40: Human Cell Atlas 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 Human Cell Atlas (HCA) project aims to build comprehensive reference maps of Human cells that will further our understanding of biological processes and diagnosing and treating disease. We present the Human Cell Atlas Ontology (HCAO), an application ontology that builds and extends from existing ontology standards to provide terminology standards with well-defined semantics for describing experimental data coming into the HCA to ensure the data is interoperable and amenable to integrative analysis.

}, keywords = {application ontology, data interoperability, Human Cell Atlas}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_40.pdf }, author = {Danielle Welter and Simon Jupp and David Osumi-Sutherland} } @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_60, title = {ICBO_2018_60: Enhancing Semantic Analysis of Pathology Reports}, 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 = {

Pathology reports play an essential role in cancer treatment and research. They contain vital findings about a patient{\textquoteright}s cancer, such as cell histology and molecular markers, that are used to diagnose the type of cancer, determine treatment options, and enhance our understanding of the nature of the disease. In this poster, we present our efforts to better search for meaningful data in pathology reports by enriching our search methods with semantic information.

}, keywords = {named entity recognition, natural language processing, Ontology, pathology report}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_60.pdf }, author = {William Duncan and Philip Whalen and Aditya Muralidharan and Jonathan Kiddy} } @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_63, title = {ICBO_2018_63: GO-MAP Implements CAFA Tools: Improved Automated Gene Function Annotation for 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 = {Maize is both a crop species and a model for genetics and genomics research. As such, maize GO annotations produced by the community data projects Gramene and Phytozome are widely used to derive hypotheses for both crop improvement and basic science. Our maize-GAMER project assessed existing maize GO annotations and to implement and test the performance of some of the most commonly used GO prediction tools (i.e., Reciprocal Best Hits and domain presence) alongside three of the top performing tools submitted for evaluation in the CAFA1 (Critical Assessment of protein Function Annotation) competition. All datasets were compared based on F-score using an independent gold-standard dataset (2002 GO annotations for 1,619 genes) provided by MaizeGDB. In addition to producing and comparing these individual GO annotation sets, we also combined the datasets we generated to produce a maize-GAMER aggregate annotation set. Compared to Gramene and Phytozome, the maize-GAMER aggregate set annotates more genes in the maize genome and assigns more GO terms per gene. In addition, the maize-GAMER dataset{\textquoteright}s functional assignments are comparable to Gramene and Phytozome overall (based on F-score). These findings have been published, and the maize-GAMER GO annotations are available via CyVerse and MaizeGDB. Here we review the methods and describe GO-MAP, the pipeline used to generate these datasets. GO-MAP has been containerized to facilitate gene function annotation for other plant proteomes and will be released via CyVerse in the very near future.}, keywords = {assessment, CAFA, function, gene ontology}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Kokulapalan Wimalanathan and Carson Andorf and Iddo Friedberg and Carolyn Lawrence-Dill} } @conference {ICBO_2018_64, title = {ICBO_2018_64: Development and implementation of the Sickle Cell Disease 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 = {Sickle Cell Disease Ontology (SCDO), is a standardized and human and machine-readable resource that represents terminology about Sickle Cell Disease (SCD), for use by researchers, patients and clinicians. This is a collaborative effort to unambiguously describe all SCD concepts and unifying up-to-date knowledge in sickle cell disease.}, keywords = {Hemoglobinopathy, Ontology, Sickle Cell Disease, Translational research}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Gaston Mazandu and Sickle Cell Disease Ontology Working Group and Nicole Vasilevsky and Ambroise Wonkam and Nicola Mulder} } @conference {ICBO_2018_65, title = {ICBO_2018_65: An ontology-driven data capture and catalogue framework for the development of research and clinical databases in Sickle Cell Disease}, 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 = {We designed an ontology-based Research Electronic Data Capture (REDCap) database of integrated medical and environmental information for Sickle Cell Disease patients. This database integrates data elements in patient clinical records or case report forms (CRFs) across multiple sites and contributes to the unification and standardization of clinical data collection instruments for SCD patient and enhances clinical decision making process and patient care.}, keywords = {Ontology, REDCap, Sickle Cell Disease}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Khuthala Mnika and Sickle Cell Disease Ontology Working Group and Nicole Vasilevsky and Ambroise Wonkam and Nicola Mulder} } @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_71, title = {ICBO_2018_71: Comparative functional analysis in plants with Gramene}, 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 = {Gramene (http://www.gramene.org) is an integrated resource for comparative functional analysis in plants, and provides researchers with access to 53 genomes and pathways for 75 plant species. Gramene includes powerful phylogenetic approaches, such as protein-based gene trees with stable IDs and whole-genome DNA alignments, enabling comparison across plant species. Gramene also provides integrated search capabilities and interactive views to locate and visualize gene features, gene neighborhoods, phylogenetic trees, genetic variation, gene expression profiles, pathways, ontology associations, and curated and orthology-projected pathways. Gramene builds upon Ensembl and Reactome software, and is committed to open access and reproducible science based on FAIR principles. Gramene is supported by an NSF grant IOS-1127112, and from USDA-ARS (1907-21000-030-00D).}, keywords = {annotation, comparative analysis, functional genomics, ontology associations, pathways, plants}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Parul Gupta and Justin Preece and Pankaj Jaiswal and Marcela K. Tello-Ruiz and Sharon Wei and Sushma Naithani and Andrew Olson and Joshua Stein and Yinping Jiao and Bo Wang and Sunita Kumari and Young Koung Lee and Vivek Kumar} } @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} }