The Infectious Disease Ontology in the Age of COVID-19

The Infectious Disease Ontology (IDO) is a suite of interoperable ontology modules that aims to provide coverage of all aspects of the infectious disease domain, including biomedical research, clinical care, and public health. IDO Core is designed to be a disease and pathogen neutral ontology, covering just those types of entities and relations that are relevant to infectious diseases generally. IDO Core is then extended by a collection of ontology modules focusing on specific diseases and pathogens. In this paper we present applications of IDO Core within various areas of infectious disease research, together with an overview of all IDO extension ontologies and the methodology on the basis of which they are built. We also survey recent developments involving IDO, including the creation of IDO Virus; the Coronaviruses Infectious Disease Ontology (CIDO); and an extension of CIDO focused on COVID-19 (IDO-CovID-19).We also discuss how these ontologies might assist in information-driven efforts to deal with the ongoing COVID-19 pandemic, to accelerate data discovery in the early stages of future pandemics, and to promote reproducibility of infectious disease research

Barry Smith an sich

Festschrift in Honor of Barry Smith on the occasion of his 65th Birthday. Published as issue 4:4 of the journal Cosmos + Taxis: Studies in Emergent Order and Organization. Includes contributions by Wolfgang Grassl, Nicola Guarino, John T. Kearns, Rudolf Lüthe, Luc Schneider, Peter Simons, Wojciech Żełaniec, and Jan Woleński

The eXtensible ontology development (XOD) principles and tool implementation to support ontology interoperability

Abstract Ontologies are critical to data/metadata and knowledge standardization, sharing, and analysis. With hundreds of biological and biomedical ontologies developed, it has become critical to ensure ontology interoperability and the usage of interoperable ontologies for standardized data representation and integration. The suite of web-based Ontoanimal tools (e.g., Ontofox, Ontorat, and Ontobee) support different aspects of extensible ontology development. By summarizing the common features of Ontoanimal and other similar tools, we identified and proposed an “eXtensible Ontology Development” (XOD) strategy and its associated four principles. These XOD principles reuse existing terms and semantic relations from reliable ontologies, develop and apply well-established ontology design patterns (ODPs), and involve community efforts to support new ontology development, promoting standardized and interoperable data and knowledge representation and integration. The adoption of the XOD strategy, together with robust XOD tool development, will greatly support ontology interoperability and robust ontology applications to support data to be Findable, Accessible, Interoperable and Reusable (i.e., FAIR).https://deepblue.lib.umich.edu/bitstream/2027.42/140740/1/13326_2017_Article_169.pd

Foundational Ontologies meet Ontology Matching: A Survey

Ontology matching is a research area aimed at finding ways to make different ontologies interoperable. Solutions to the problem have been proposed from different disciplines, including databases, natural language processing, and machine learning. The role of foundational ontologies for ontology matching is an important one. It is multifaceted and with room for development. This paper presents an overview of the different tasks involved in ontology matching that consider foundational ontologies. We discuss the strengths and weaknesses of existing proposals and highlight the challenges to be addressed in the future

Improving the Quality and Utility of Electronic Health Record Data through Ontologies

The translational research community, in general, and the Clinical and Translational Science Awards (CTSA) community, in particular, share the vision of repurposing EHRs for research that will improve the quality of clinical practice. Many members of these communities are also aware that electronic health records (EHRs) suffer limitations of data becoming poorly structured, biased, and unusable out of original context. This creates obstacles to the continuity of care, utility, quality improvement, and translational research. Analogous limitations to sharing objective data in other areas of the natural sciences have been successfully overcome by developing and using common ontologies. This White Paper presents the authors’ rationale for the use of ontologies with computable semantics for the improvement of clinical data quality and EHR usability formulated for researchers with a stake in clinical and translational science and who are advocates for the use of information technology in medicine but at the same time are concerned by current major shortfalls. This White Paper outlines pitfalls, opportunities, and solutions and recommends increased investment in research and development of ontologies with computable semantics for a new generation of EHRs

Representing SNOMED CT Concept Evolutions using Process Profiles

Abstract. SNOMED CT is a very large biomedical terminology supported by a concept-based ontology. In recent years it has been distributed under the new release format 'RF2'. RF2 provides a more consistent and coherent mechanism for keeping track of changes over versions, even to the extent that -in theory at leastany release will contain enough information to allow reconstruction of all previous versions. In this paper, using the January 2016 release of SNOMED CT, we explore various ways to transform change-assertions in RF2 into a more uniform representation with the goal of assessing how faithful these changes are with respect to biomedical reality. Key elements in our approach are (1) recent proposals for the Information Artifact Ontology that provide a realism-based perspective on what it means for a representation to be about something, and (2) the expectation that the theory of what we call 'process profiles' can be applied not merely to quantitative information artifacts but also to other sorts of symbolic representations of processes

Design and Development of an Ontology for Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a degenerative disease that affects the nervous system, causing a progressive deterioration in the quality of life of affected patients. The European project Brainteaser leverages the value of Big Data, including health, lifestyle and environmental data, and Artificial Intelligence tools in order to deliver algorithms capable of predicting the progression of such disease. Since Brainteaser adopts an open-science approach and considering the trend in this field to use ontologies, i.e. models of formal representation of knowledge, the need to develop an ontology for Amyotrophic Lateral Sclerosis emerged. Based on this need, in this thesis we will present the design and development of an ontology to model clinical data for Amyotrophic Lateral Sclerosis. In addition, we will also present the development of a Data Mapper: a software that aims to map clinical data on Amyotrophic Lateral Sclerosis in an RDF (Resource Description Framework) dataset according to the ontology developed.Amyotrophic Lateral Sclerosis (ALS) is a degenerative disease that affects the nervous system, causing a progressive deterioration in the quality of life of affected patients. The European project Brainteaser leverages the value of Big Data, including health, lifestyle and environmental data, and Artificial Intelligence tools in order to deliver algorithms capable of predicting the progression of such disease. Since Brainteaser adopts an open-science approach and considering the trend in this field to use ontologies, i.e. models of formal representation of knowledge, the need to develop an ontology for Amyotrophic Lateral Sclerosis emerged. Based on this need, in this thesis we will present the design and development of an ontology to model clinical data for Amyotrophic Lateral Sclerosis. In addition, we will also present the development of a Data Mapper: a software that aims to map clinical data on Amyotrophic Lateral Sclerosis in an RDF (Resource Description Framework) dataset according to the ontology developed