@conference {ICBO_2018_10, title = {ICBO_2018_10: Standardization of the Histopathology Cancer Report: An Ontological Approach}, 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 recent years, the complexity of cancer pathology reporting has increased significantly. The pathology report covers not only general information such as the presence or absence of cancer, but includes a collection of specific parameters such as tumor size, grade, margin, lymphatic or vascular involvement as well as molecular testing e.g. proteomics and genomics (Figure 1). Soon, biomarkers and immune profiling will play an increasingly more important role in determining the eligibility for particular therapies, along with genetic predisposition and social risk factors. The increased use of digital pathology, which allows streamlined sharing of images, has highlighted the importance of clear communication of the information displayed in the pathology report. In the past years, significant effort has been devoted to redefining the way that histopathology report information is recorded. The College of American Pathologists (CAP) (http://www.cap.org/), a leading organization of board-certified pathologists, introduced synoptic cancer reports, a structured checklist to standardize clinical documentation. Despite continuous improvement and generation of electronic reports, formal representation [1] is still lacking. This lack of standardization limits the ability to integrate pathology information with other genomic and proteomic data and often results in loss of information.

}, keywords = {Cancer, Histopathology Cancer, Histopathology report, Ontology, pathology, Pathology standard, Tumor}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_10.pdf}, author = {Anna Maria Masci and Shannon McCall and Alessandro Racioppi and Helena Judge Ellis and Jihad S. Obeid and Barry Smith and Christian Stoeckert and Jie Zheng} } @conference {ICBO_2018_11, title = {ICBO_2018_11: Planteome \& BisQue: Automating Image Annotation with Ontologies using Deep-Learning Networks}, 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 field of computer vision has recently experienced tremendous progress due to advances in deep learning. This development holds particular promise in applications for plant research, due to a significant increase in the scale of image data harvesting and a strong field-driven interest in the automated processing of observable phenotypes and visible traits within agronomically important species. Parallel developments have occurred in semantic computing; for example, new ontologies have been initiated to capture plant traits and disease indicators. When combined with existing segmentation capabilities, it is possible to conceptualize software applications that give researchers the ability to analyze large quantities of plant phenotype image data, and to auto-annotate that data with meaningful, computable semantic terminology. We have previously reported on a software application that integrates segmentation and ontologies, but lacked the ability to manage very high-resolution images, and also lacked a database platform to allow for high-volume storage requirements. We have also previously reported our migration of the AISO user-guided segmentation feature to a BisQue (Bio-Image Semantic Query User Environment) module to take advantage of its increased power, ability to scale, secure data management environment, and collaborative software ecosystem. Neither AISO nor our initial BisQue implementation possessed a machine-learning component for interpreting (parts of) images. Plant researchers could benefit greatly from a trained classification model that predicts image annotations with a high degree of accuracy. We have therefore implemented two deep-learning prototypes: a coarse classification module for plant object identification (i.e. flower, fruit) and a fine-grained classification module that focuses on plant traits (e.g. reticulate vs. parallel venation, tip shape). Both classification models return results mapped to ontology terms as a form of annotation enrichment. This current version of the Planteome Deep Segmenter module combines image classification with optional guided segmentation and ontology annotation. We have most recently run the module on local Planteome BisQue client services, and are currently working with CyVerse to install a hosted version on their BisQue client service.

}, keywords = {annotation, convolutional neural networks, deep learning, image analysis, machine learning, Ontology, segmentation}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_11.pdf}, author = {Dimitrios Trigkakis and Justin Preece and Austin Meier and Justin Elser and Kris Kvilekval and Dmitry Fedorov and B.S. Manjunath and Pankaj Jaiswal and Sinisa Todorovic} } @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_15, title = {ICBO_2018_15: Quality Assurance of Ontology Content Reuse}, 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 ontologies is difficult and time-consuming. As such, content reuse has been promoted as an important guiding principle in ontology development. Reusing content from other ontologies can reduce the overall effort involved in new ontology construction and provide better alignment with existing knowledge modeling. However, reuse is not a panacea, and it comes with its own attendant difficulties. In this paper, we investigate some common quality assurance issues associated with reuse, such as duplicated content and versioning problems. Some heuristic-based approaches are proposed for analyzing ontologies for these kinds of quality assurance issues. An analysis is carried out on a sample of the large collection of BioPortal-hosted ontologies, many of which employ reuse. The findings indicate that curators and authors, particularly those new to the reuse process, should be on the alert when developing an ontology with reused content to avoid introducing problems into their own ontologies.

}, keywords = {BioPortal, modeling, Ontology, ontology quality assurance, ontology reuse}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_15.pdf }, author = {Michael Halper and Christopher Ochs and Yehoshua Perl and Sivaram Arabandi and Mark Musen} } @conference {ICBO_2018_16, title = {ICBO_2018_16: A falsification approach to create and check ontology definitions}, 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 = {

Here we propose a workflow to derive ontological definitions using a falsification approach to eliminate properties that are not necessary or sufficient. First we present the interpretation of necessity and sufficiency. Then, we present the way to disprove either of these. Last, we derive the workflow that includes finding counter examples for candidate ontological definitions. We apply this approach to a Sequence Ontology definition as a matter of example.

}, keywords = {falsification, necessary and sufficient conditions, ontology definition}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_16.pdf }, author = {Citlalli Mej{\'\i}a and Julio Collado-Vides} } @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_19, title = {ICBO_2018_19: Current Development in the Evidence and Conclusion Ontology (ECO)}, 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 Evidence \& Conclusion Ontology (ECO) has been developed to provide standardized descriptions for types of evidence within the biological domain. Best practices in biocuration require that when a biological assertion is made (e.g. linking a Gene Ontology term for a molecular function to a protein), the type of evidence supporting it is captured. In recent development efforts, we have been working with other ontology groups to ensure that ECO classes exist for the types of curation they support. These include the Ontology for Microbial Phenotypes and the Gene Ontology. In addition, we continue to support user-level class requests through our GitHub issue tracker. To facilitate the addition and maintenance of new classes, we utilize ROBOT (a command line tool for working with Open Biomedical Ontologies) as part of our standard workflow. ROBOT templates allow us to define classes in a spreadsheet and convert them to Web Ontology Language (OWL) axioms, which can then be merged into ECO. ROBOT is also part of our automated release process. Additionally, we are engaged in ongoing work to map ECO classes to Ontology for Biomedical Investigation classes using logical definitions. ECO is currently in use by dozens of groups engaged in biological curation and the number of ECO users continues to grow. The ontology, in OWL and Open Biomedical Ontology (OBO) formats, and associated resources can be accessed through our GitHub site (https://github.com/evidenceontology/evidenceontology) as well as the ECO web page (http://evidenceontology.org/).

}, keywords = {biocuration, evidence, gene annotation, ontology development, ontology mapping}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_19.pdf }, author = {Rebecca Tauber and James B. Munro and Suvarna Nadendla and Binika Chunara and Marcus C. Chibucos and Michelle Giglio} } @conference {ICBO_2018_22, title = {ICBO_2018_22: Reconciling ontology definitions using the Ontology Pattern Reconciliation Workbench and the DOSDP framework}, 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 = {

Many bio-ontologies use formal, logical definitions to automate multiple inheritance classification and drive cross-ontology inference. This requires the use of standardised design patterns: shared patterns of axiomatisation using common reference ontologies. Developing, managing and implementing a suitably consistent set of design patterns can be challenging. In many phenotype ontologies, for example, a large proportion of class terms have formal definitions following a general framework, known as entity/quality (EQ), with common relations and reference ontologies. Despite this, the formal definitions used are often too divergent to drive classification and cross-ontology inference. Here we present software tools for improving and managing formalisation using design patterns. The Ontology Pattern Reconciliation Workbench helps users prioritise patterns for reconciliation between two related ontologies based on the impact pattern reconciliation will have on cross-ontology mapping. An extension to the ontology starter kit provides a practical workflow for developing ontologies using formally specified design patterns.

}, keywords = {entity/quality definitions, logical definitions, ontology design patterns, pattern reconciliation, phenotype ontologies}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_22.pdf }, author = {Nicolas Matentzoglu and David Osumi-Sutherland} } @conference {ICBO_2018_23, title = {ICBO_2018_23: Prot{\'e}g{\'e} 5.5 {\textendash} Improvements for Editing Biomedical 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 = {

We present Prot{\'e}g{\'e} 5.5, a significant update to the Prot{\'e}g{\'e} Desktop software, which contains new features that are geared towards editing biomedical ontologies. This version of Prot{\'e}g{\'e} contains user-interface enhancements and optimizations that should make the browsing and editing of OBO-library-style biomedical ontologies easier, faster and more efficient when compared to previous versions of Prot{\'e}g{\'e}.

}, keywords = {Biomedical Ontology Editing, OWL, Prot{\'e}g{\'e}}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_23.pdf }, author = {Matthew Horridge and Rafael S Gon{\c c}alves and Csongor I Nyulas and Tania Tudorache and Mark Musen} } @conference {ICBO_2018_25, title = {ICBO_2018_25: OOPS: The Ontology of Plant Stress, A semi-automated standardization methodology}, 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 = {

Plant stress traits are an important breeding target for all crop species. Massive amounts of research dollars are spent combating plant diseases and nutrient deficiencies. Often this data is used to achieve a single goal, and then left in a repository to never be used again. As a scientific community, we should be striving to make all publicly funded data reusable, and interoperable. This goal is achievable only through careful annotation using universal data and metadata standards. One such standard is through the use of a standardized vocabulary, or ontology. This paper focuses on producing a semi-automated method to define, and label plant stresses using a combination of web scraping, and ontology design patterns. Standardizing the definitions, and linking plant stress with established hierarchies leverages previous work of developed knowledge bases such as taxonomic classifications and other ontologies.

}, keywords = {automation, data standards, nutrient deficiency, Ontology, plant pathology, Planteome, web scraping}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_25.pdf }, author = {Austin Meier and Marie-Ang{\'e}lique Laporte and Justin Elser and Laurel Cooper and Justin Preece and Pankaj Jaiswal and Jorrit Poelen} } @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_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_39, title = {ICBO_2018_39: TOCSOC: A temporal ontology for comparing the survival outcomes of clinical trials in oncology}, 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 outcome of clinical trials for cancer is typically summarized in terms of survival. However, different trials for the same disease may use different measures of survival, or use differing vocabulary to refer to the same outcome measure. This makes it harder to automate an objective comparison of treatments. We propose a temporal ontology of survival outcome measures that a) helps to standardize the vocabulary for reporting survival outcomes and b) makes it possible to automatically rank the relative efficacy of different treatments. The approach has been illustrated by examples from the oncology literature. The temporal ontology and the accompanying reasoner are freely available on Github (https://github.com/pdddinakar/TOCSOC)

}, keywords = {clinical trials, oncology, reasoning, survival outcome, temporal ontology}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_39.pdf }, author = {Deendayal Dinakarpandian and Bhavish Dinakar and Michaela Liedtke and Mark Musen} } @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_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_47, title = {ICBO_2018_47: On the statistical sensitivity of semantic similarity metrics}, booktitle = {International Conference on Biomedical Ontology (ICBO 2018)}, series = {Proceedings of the International Conference on Biological Ontology (2018)}, year = {2018}, month = {08/06/2018}, publisher = {International Conference on Biological Ontology}, organization = {International Conference on Biological Ontology}, abstract = {

Measuring the semantic similarity between objects that have been annotated with ontological terms is fundamental to an increasing number of biomedical applications, and several different ontologically-aware semantic similarity metrics are in common use. In some of these applications, only weak semantic similarity is expected for biologically meaningful matches. In such cases, it is important to understand the limits of sensitivity for these metrics, beyond which biologically meaningful matches cannot be reliably distinguished from noise. Here, we present a statistical sensitivity comparison of five common semantic similarity metrics (Jaccard, Resnik, Lin, Jiang \& Conrath, and Hybrid Relative Specificity Similarity) representing three different kinds of metrics (Edge based, Node based, and Hybrid) and four different methods of aggregating individual annotation similarities to estimate similarity between two biological objects - All Pairs, Best Pairs, Best Pairs Symmetric, and Groupwise. We explore key parameter choices that can impact sensitivity. To evaluate sensitivity in a controlled fashion, we explore two different models for simulating data with varying levels of similarity and compare to the noise distribution using resampling. Source data are derived from the Phenoscape Knowledgebase of evolutionary phenotypes. Our results indicate that the choice of similarity metric, along with different parameter choices, can substantially affect sensitivity. Among the five metrics evaluated, we find that Resnik similarity shows the greatest sensitivity to weak semantic similarity. Among the ways to combine pairwise statistics, the Groupwise approach provides the greatest discrimination among values above the sensitivity threshold, while the Best Pairs statistic can be parametrically tuned to provide the highest sensitivity. Our findings serve as a guideline for an appropriate choice and parameterization of semantic similarity metrics, and point to the need for improved reporting of the statistical significance of semantic similarity matches in cases where weak similarity is of interest.

}, keywords = {annotation granularity, curation, Ontology, phenotype, semantic similarity}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_47.pdf }, author = {Prashanti Manda and Todd Vision} } @conference {ICBO_2018_48, title = {ICBO_2018_48: Evidence-based medicine,Knowledge Modeling Framework}, 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 = {Members within the Healthcare Collaborative Network are confronting major changes at work as well as the growing body of information, much of it invalid or irrelevant to clinical practice. Evidence-based medicine is used to analyze clinical data objectively in terms of quality from different studies. The knowledge modeling is important in knowledge management for understanding the source of knowledge, the inputs and outputs, the flow of knowledge and the dependents are necessary to model the knowledge.This article discusses a proposed evidence based medicine, knowledge modeling framework. The challenge is in representation, integration, analysis, interpretation of the available knowledge and data, management of heterogeneous data, the integration and transfer of enriched data, the effective use of knowledge-based decision systems, sharing of knowledge automatically from huge volumes of data. The above challenge arise the need for Evidence-based medicine Knowledge Modeling Framework, which should provide an answer for the question "How collection, sharing and re-uses of biomedical Big Data should be regulated?{\textquotedblright}.}, keywords = {Bioinformatics, Evidence-based medicine, Knowledge Modeling Framework}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Morcous Massoud} } @conference {ICBO_2018_52, title = {ICBO_2018_52: The integrative use of anatomy ontology and protein-protein interaction networks to study evolutionary phenotypic transitions}, 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 = {

Studying evolutionary phenotypic transitions, such as the fin to limb transition, is popular in evolutionary biology. The recent advances in next-generation technologies have accumulated large volumes of genomics and proteomics data, which can be used to analyze the genetic basis for evolutionary phenotypic transitions. Protein-protein interaction (PPI) networks can be used to predict candidate genes and identify gene modules related to evolutionary phenotypes; however, they suffer from low gene prediction accuracy. Therefore, an integrative framework was developed using PPI networks and anatomy ontology, which significantly improved the accuracy of network-based candidate gene predictions in zebrafish and mouse. This integrative framework will also be used to identify gene modules associated with the fin to limb transition and to study the changes in these modules which lead to the phenotypic change.

}, keywords = {anatomy ontology, data integration, gene prediction, network analysis, protein-protein interactions}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_52.pdf }, author = {Pasan Fernando and Erliang Zeng and Paula Mabee} } @conference {ICBO_2018_55, title = {ICBO_2018_55: Visualization: A Powerful Tool for Data Exploration and Storytelling}, 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 = {Advanced computing and imaging/sensing technologies enable scientists and researchers to study complex phenomena at unprecedented precision, resulting in an explosive growth of data. The size of the collected information about the Internet and mobile device users is expected to be even greater, a daunting challenge we must address in order to make sense and maximize utilization of all the available information. Visualization transforms large quantities of, often multiple-dimensional, data into graphical representations that exploit the high-bandwidth channel of the human visual system, leveraging the brain{\textquoteright}s remarkable ability to detect patterns and draw inferences. It has thus become an indispensable tool in many areas of study involving large, complex data. This talk presents and discusses several effective visualization designs made to support a variety of data driven tasks found in real-world applications from simulations for scientific discovery and design, to emergency management, cyber security, e-commerce and healthcare.}, keywords = {data exploration, scientific discovery, storytelling, Visualization}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Kwan-Liu Ma} } @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_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_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_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_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 {181, title = {ICBO_2018_77: Big Data Visualization}, booktitle = {International Conference on Biomedical Ontology (ICBO 2018)}, year = {2008}, month = {08/06/2018}, publisher = {International Conference on Biomedical Ontology}, organization = {International Conference on Biomedical Ontology}, address = {Corvallis, OR}, abstract = {

Advanced computing and experimental technologies enable scientists to study complex phenomena at unprecedented precision, resulting in an explosive growth of data. The size of the collected information about the Internet and mobile device users is expected to be even greater, a daunting challenge we must address in order to make sense and maximize utilization of all the available information. Visualization transforms large quantities of, often multi-dimensional, data into graphical representations that exploit the high-bandwidth channel of the human visual system, leveraging the brain{\textquoteright}s remarkable ability to detect patterns and draw inferences. Visualization has thus become an indispensable tool in many areas of study involving large, complex data. In this talk, I will discuss designs and strategies for visualizing data generated by large-scale scientific simulations and network data derived from social media and cyber security applications.

}, keywords = {big data, data visulaization, Network Data, scientific discovery, Visual Analysis, Visualization}, author = {Kwan-Liu Ma} }