@conference {W05-04, title = {W05-04: LAERTES: An open scalable architecture for linking pharmacovigilance evidence sources with clinical data}, 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 = {Integrating multiple sources of pharmacovigilance evidence has the potential to advance the science of safety signal detection and evaluation. Consistent with these results, there has been a recent call for more research on how to integrate multiple disparate evidence sources while making the evidence computable from a knowledge representation perspective (i.e., semantic enrichment). Existing frameworks integrating various sources provide some of the input needed for combinatorial signal detection. However, none have been specifically designed to support both regulatory and clinical use cases, nor developed using an open architecture allowing interested scientists to easily add new sources. This paper discusses the architecture and functionality of a system called Large-scale Adverse Effects Related to Treatment Evidence Standardization (LAERTES). LAERTES provides an open and scalable architecture for linking evidence sources relevant to investigating the association of drugs with health outcomes of interest (HOIs). Standard terminologies/ontologies are used to represent different entities. For example, drugs and HOIs are represented respectively using RxNorm and SNOMED-CT. At the time of this writing, six evidence sources have been loaded into LAERTES. Also, a prototype evidence exploration user interface and set of Web API services are available. This system operates within a larger software environment provided by the OHDSI clinical research framework.}, url = {http://icbo.cgrb.oregonstate.edu/}, author = {Richard D. Boyce and Erica A. Voss and Vojtech Huser and Lee Evans and Christian Reich and Jon D. Duke and Nicholas P. Tatonetti and Michel Dumontier and Manfred Hauben and Magnus Wallberg and Lili Peng and Sara Dempster and Yongqun He and Anthony G. Sena and Patrick B. Ryan} } @conference {IT703, title = {IT703: Semantic Digitization of Experimental Data in Biological Sciences}, 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 = {

A major bulk of published experimental data, referred to as {\^O}Gold Standard{\~O} data, is available in a format that cannot be easily accessed by computers unless effectively curated. Most curation techniques bank on mining the text for information. Here we propose and demonstrate the efficacy of curating the experimental data itself. The data models facilitate digitization of the every aspect of the information associated with the experimental data. The models utilize several universally accepted ontologies as well as in-house developed alphanumeric notations for digitizing different aspect of the data. The data models have sufficient flexibility to address the extensive variability in experimental data. They have a very generic nature and can be used to curate and digitize experimental data from any organism. The digitized data is easily stored in a relational database management system and can thus be rapidly searched and integrated. These models have been successfully used to digitize data from over 20,000 experiments spanning over 500 research articles on rice biology. The entire dataset is available as a database entitled {\^O}Manually Curated Database of Rice Proteins{\~O} at www.genomeindia.org/biocuration.

}, url = {http://ceur-ws.org/Vol-1747/IT703_ICBO2016.pdf}, author = {Saurabh Raghuvanshi} } @conference {IT505, title = {IT505: Towards a Standard Ontology Metadata Model}, 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 = {

Bio-ontologies are becoming increasingly important in semantic alignment for data integration, information exchange, and semantic interoperability. Due to the large number of emerging bio-ontologies, it is challenging for ontology for their applications. Therefore, it is important to have a consistent terminology metadata model and a resource for discovering appropriate ontologies or other resource for use in annotating data. This paper aims to seek a common, shareable, and comprehensive method to create, disseminate, and consume metadata about terminology resources.

}, url = {http://ceur-ws.org/Vol-1747/IT505_ICBO2016.pdf}, author = {Hua Min and Stuart Turner and Sherri de Coronado and Brian Davis and Trish Whetzel and Robert R. Freimuth and Harold R. Solbrig and Richard Kiefer and Michael Riben and Grace A. Stafford and Lawrence Wright and Riki Ohira} } @conference {IT504, title = {IT504: OOSTT: a Resource for Analyzing the Organizational Structures of Trauma Centers and Trauma Systems}, 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 = {

Organizational structures of healthcare organiza-tions has increasingly become a focus of medical research. In the CAF{\'E} project we aim to provide a web-service enabling ontol-ogy-driven comparison of the organizational characteristics of trauma centers and trauma systems. Trauma remains one of the biggest challenges to healthcare systems worldwide. Research has demonstrated that coordinated efforts like trauma systems and trauma centers are key components of addressing this chal-lenge. Evaluation and comparison of these organizations is es-sential. However, this research challenge is frequently com-pounded by the lack of a shared terminology and the lack of ef-fective information technology solutions for assessing and com-paring these organizations. In this paper we present the Ontol-ogy of Organizational Structures of Trauma systems and Trauma centers (OOSTT) that provides the ontological founda-tion to CAF{\'E}{\textquoteright}s web-based questionnaire infrastructure. We present the usage of the ontology in relation to the questionnaire and provide the methods that were used to create the ontology.

}, url = {http://ceur-ws.org/Vol-1747/IT504_ICBO2016.pdf}, author = {Joseph Utecht and John Judkins and Terra Colvin Jr. and J. Neil Otte and Nicholas Rogers and Robert Rose and Maria Alvi and Amanda Hicks and Jane Ball and Stephen M. Bowman and Robert T. Maxson and Rosemary Nabaweesi and Rohit Pradhan and Nels D. Sanddal and M. Eduard Tudoreanu and Robert Winchell and Mathias Brochhausen} } @conference {IT503, title = {IT503: Malaria study data integration and information retrieval based on OBO Foundry ontologies}, 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 International Centers of Excellence in Malaria Research (ICEMR) projects involve studies to understand the epidemiology and transmission patterns of malaria in different geographic regions. Two major challenges of integrating data across these projects are: (1) standardization of highly heterogeneous epidemiologic data collected by various ICEMR projects; (2) provision of user-friendly search strategies to identify and retrieve information of interest from the very complex ICEMR data. We pursued an ontology-based strategy to address these challenges. We utilized and contributed to the Open Biological and Biomedical Ontologies to generate a consistent semantic representation of three different ICEMR data dictionaries that included ontology term mappings to data fields and allowed values. This semantic representation of ICEMR data served to guide data loading into a relational database and presentation of the data on web pages in the form of search filters that reveal relationships specified in the ontology and the structure of the underlying data. This effort resulted in the ability to use a common logic for storing and display of data on study participants, their clinical visits, and epidemiological information on their living conditions (dwelling) and geographic location. Users of the Plasmodium Genomics Resource, PlasmoDB, accessing the ICEMR data will be able to search for participants based on environmental factors such as type of dwelling, location or mosquito biting rate, characteristics such as age at enrollment, relevant genotypes or gender and visit data such as laboratory findings, diagnoses, malaria medications, symptoms, and other factors.

}, url = {http://ceur-ws.org/Vol-1747/IT503_ICBO2016.pdf}, author = {Jie Zheng and Jashon Cade and Brian Brunk and David Roos and Chris Stoeckert and San James and Emmanuel Arinaitwe and Bryan Greenhouse and Grant Dorsey and Steven Sullivan and Jane Carlton and Gabriel Carrasco-Escobar and Dionicia Gamboa and Paula Maguina-Mercedes and Joseph Vinetz} } @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 {IP25, title = {IP25: The Zebrafish Experimental Conditions Ontology Systemizing Experimental Descriptions in ZFIN}, 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 Zebrafish Experimental Conditions Ontology (ZECO) defines the major experimental conditions used in research studies that employ the zebrafish, Danio rerio. We are systematically building the ontology to encompass both standard control conditions and experimental conditions and it is designed to allow better data curation and more precise information retrieval.

}, url = {http://ceur-ws.org/Vol-1747/IP25_ICBO2016.pdf}, author = {Yvonne Bradford and Ceri Van Slyke and Sabrina Toro and Sridhar Ramachandran} } @conference {IP18, title = {IP18: The ImmPort Antibody 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 = {

n/a

}, url = {http://ceur-ws.org/Vol-1747/IP18_ICBO2016.pdf}, author = {William Duncan and Travis Allen and Jonathan Bona and Olivia Helfer and Barry Smith and Alan Ruttenberg and Alexander D. Diehl} } @conference {IP14, title = {IP14: Towards designing an ontology encompassing the environment-agriculture-food-diet-health knowledge spectrum for food system sustainability and resilience.}, 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 = {

Feeding 9 billion people is not solely a matter of food, health, nutrition, and the environment. Promoting human health by increasing the sustainability and resilience of food systems requires integrating information from a broad range of disciplines from human nutrition/health systems and agricultural/natural systems to social, financial, physical and political systems. Ontologies serve to specify common terminologies for critical concepts and relationships within these systems, however very few ontologies have been developed with this interdisciplinary focus. Biological ontologies, whether focused on human physiology, soil quality, or nutritional value are only part of the story when it comes to determining linkages throughout the food system that help determine human health and well-being. We seek to build an ontology of food and food systems that encompasses the relevant sustainability issues in their entirety. We have already built an ontology of sustainable sourcing of agricultural raw materials issues and indicators, but aim to expand our ontology to include attributes of resilience, and other issues along the environment-agriculture-food-diet-health knowledge spectrum. Additionally, we aim to create this ontology with the intention of quick usability for the food system decision-maker.

}, url = {http://ceur-ws.org/Vol-1747/IP14_ICBO2016.pdf}, author = {Ruthie Musker and Matthew Lange and Allan Hollander and Patrick Huber and Nathaniel Springer and Courtney Riggle and James Quinn and Thomas Tomich} } @conference {D205, title = {D104: Updates to the AberOWL ontology repository}, 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 = {

A large number of ontologies have been developed in the biological and biomedical domains, which are mostly expressed in the Web Ontology Language (OWL). These ontologies form a logical foundation for our knowledge in these domains, and they are in widespread use to annotate biomedical and biological datasets. The use of the semantics provided by ontologies requires the use of automated reasoning {\textendash} inferring new knowledge by evaluating the asserted axioms. AberOWL is an ontology repository which utilises an OWL 2 EL reasoner to provide semantic access to classified ontologies. Since our original presentation of the AberOWL framework, we have developed several additional tools and features which enrich its ability to integrate and explore data, make use of the semantic and inferred content of ontologies. Here we present an overview of AberOWL and the enhancements and new features which have been developed since its conception. AberOWL is freely available at http://aber-owl.net.

}, url = {http://ceur-ws.org/Vol-1747/D104_ICBO2016.pdf}, author = {M{\'A} Rodr{\'\i}guez-Garc{\'\i}a and Luke Slater and Imane Boudellioua and Paul Schofield and Georgios Gkoutos and Robert Hoehndorf} } @conference {BT203, title = {BT203: MutD {\textendash} A PubMed Scale Resource for Protein Mutation-Disease Relations through Bio-Medical Literature Mining}, 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 = {

A large amount of information about the role of gene variants and mutations in diseases is available in curated databases such as OMIM, ClinVar, and UniprotKB. However, much of this information remains {\textquoteleft}locked{\textquoteright} in the unstructured form in the scientific publications. Since manual curation involves significant human effort and time there is always a lag in the information between the curated databases and the literature. The recent findings published in the literature takes significant time to find its way into the curated knowledgebase. Text mining approaches can accelerate the process of assembling this knowledge from the published literature. However, developing a text-mining system with semantic understanding capability in the biomedical domain is very challenging. In an earlier work, we described MutD, a literature mining system that extracts relationship between protein point mutation and diseases from bio-medical abstracts. In this abstract, we present access to a PubMed scale resource through a web interface that allows users to retrieve protein point mutation-disease relations extracted through biomedical literature mining.

}, url = {http://ceur-ws.org/Vol-1747/BT203_ICBO2016.pdf}, author = {RK Elayavilli and Majid Rastegar-Mojarad and Hongfang Liu} } @conference {BP02, title = {BP02: Disease Named Entity Recognition Using NCBI Corpus}, 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 = {

Named Entity Recognition (NER) in biomedical literature is a very active research area. NER is a crucial component of biomedical text mining because it allows for information retrieval, reasoning and knowledge discovery. Much research has been carried out in this area using semantic type categories, such as fiDNAfl, fiRNAfl, fiproteinsfl and figenesfl. However, disease NER has not received its needed attention yet, specifically human disease NER. Traditional machine learning approaches lack the precision for disease NER, due to their dependence on token level features, sentence level features and the integration of features, such as orthographic, contextual and linguistic features. In this paper a method for disease NER is proposed which utilizes sentence and token level features based on Conditional Random Fields using the NCBI disease corpus. Our system utilizes rich features including orthographic, contextual, affixes, bigrams, part of speech and stem based features. Using these feature sets our approach has achieved a maximum F-score of 94\% for the training set by applying 10 fold cross validation for semantic labeling of the NCBI disease corpus. For testing and development corpus the model has achieved an F-score of 88\% and 85\% respectively.

}, url = {http://ceur-ws.org/Vol-1747/BP02_ICBO2016.pdf}, author = {Thomas Hahn and Hidayat Ur Rahman and Richard Segall} } @conference {BP01, title = {BP01: Ignet: A centrality and INO-based web system for analyzing and visualizing literature-mined networks}, 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 = {

Ignet (Integrative Gene Network) is a web-based system for dynamical- ly updating and analyzing gene interaction networks mined using all Pub- Med abstracts. Four centrality metrics, namely degree, eigenvector, be- tweenness, and closeness are used to determine the importance of genes in the networks. Different gene interaction types between genes are classified using the Interaction Network Ontology (INO) that classifies interaction types in an ontological hierarchy along with individual keywords listed for each interaction type. An interactive user interface is designed to explore the interaction network as well as the centrality and ontology based net- work analysis. Availability: http://ignet.hegroup.org.

}, url = {http://ceur-ws.org/Vol-1747/BP01_ICBO2016.pdf}, author = {Arzucan Ozgur and Junguk Hur and Zuoshuang Xiang and Edison Ong and Dragomir Radev and Yongqun He} } @conference {BIT103, title = {BIT103: Scalable Text Mining Assisted Curation of PTM Proteoforms in the Protein 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 = {

The Protein Ontology (PRO) defines protein classes and their interrelationships from the family to the protein form (proteoform) level within and across species. One of the unique contributions of PRO is its representation of post-translationally modified (PTM) proteoforms. However, progress in adding PTM proteoform classes to PRO has been relatively slow due to the extensive manual curation effort required. Here we report an automated pipeline for creation of PTM proteoform classes that leverages two phosphorylation-focused text mining tools (RLIMS-P, which detects mentions of kinases, substrates, and phosphorylation sites, and eFIP, which detects phosphorylation-dependent protein-protein interactions (PPIs)) and our integrated PTM database, iPTMnet. By applying this pipeline, we obtained a set of \ 820 substrate-site pairs that are suitable for automated PRO term generation with literature-based evidence attribution. Inclusion of these terms in PRO will increase PRO coverage of species-specific PTM proteoforms by 50\%. Many of these new proteoforms also have associated kinase and/or PPI information. Finally, we show a phosphorylation network for the human and mouse peptidyl-prolyl cis-trans isomerase (PIN1/Pin1) derived from our dataset that demonstrates the biological complexity of the information we have extracted. Our approach addresses scalability in PRO curation and will be further expanded to advance PRO representation of phosphorylated proteoforms.

}, url = {http://ceur-ws.org/Vol-1747/BIT103_ICBO2016.pdf}, author = {Karen Ross and Darren Natale and Cecilia Arighi and Sheng-Chih Chen and Hongzhan Huang and Gang Li and Jia Ren and Michael Wang and K Vijay-Shanker and Cathy Wu} }