325 research outputs found
A BioPortal-based terminology service for health data interoperability
A terminology service makes diverse terminologies/ontologies accessible under a uniform interface. The EU TRANSFoRm project built an online terminology service for European primary care research. The service experienced performance limitations during its operation. Based on community feedback, we evaluated alternative solutions and developed a new version of the service. Based on BioPortal’s scalable infrastructure, the new service delivers more features with improved performance and reduced maintenance cost. We plan to extend the service to meet Fast Healthcare Interoperability Resources specifications
NCBO Ontology Recommender 2.0: An Enhanced Approach for Biomedical Ontology Recommendation
Biomedical researchers use ontologies to annotate their data with ontology
terms, enabling better data integration and interoperability. However, the
number, variety and complexity of current biomedical ontologies make it
cumbersome for researchers to determine which ones to reuse for their specific
needs. To overcome this problem, in 2010 the National Center for Biomedical
Ontology (NCBO) released the Ontology Recommender, which is a service that
receives a biomedical text corpus or a list of keywords and suggests ontologies
appropriate for referencing the indicated terms. We developed a new version of
the NCBO Ontology Recommender. Called Ontology Recommender 2.0, it uses a new
recommendation approach that evaluates the relevance of an ontology to
biomedical text data according to four criteria: (1) the extent to which the
ontology covers the input data; (2) the acceptance of the ontology in the
biomedical community; (3) the level of detail of the ontology classes that
cover the input data; and (4) the specialization of the ontology to the domain
of the input data. Our evaluation shows that the enhanced recommender provides
higher quality suggestions than the original approach, providing better
coverage of the input data, more detailed information about their concepts,
increased specialization for the domain of the input data, and greater
acceptance and use in the community. In addition, it provides users with more
explanatory information, along with suggestions of not only individual
ontologies but also groups of ontologies. It also can be customized to fit the
needs of different scenarios. Ontology Recommender 2.0 combines the strengths
of its predecessor with a range of adjustments and new features that improve
its reliability and usefulness. Ontology Recommender 2.0 recommends over 500
biomedical ontologies from the NCBO BioPortal platform, where it is openly
available.Comment: 29 pages, 8 figures, 11 table
An ontology to standardize research output of nutritional epidemiology : from paper-based standards to linked content
Background: The use of linked data in the Semantic Web is a promising approach to add value to nutrition research. An ontology, which defines the logical relationships between well-defined taxonomic terms, enables linking and harmonizing research output. To enable the description of domain-specific output in nutritional epidemiology, we propose the Ontology for Nutritional Epidemiology (ONE) according to authoritative guidance for nutritional epidemiology.
Methods: Firstly, a scoping review was conducted to identify existing ontology terms for reuse in ONE. Secondly, existing data standards and reporting guidelines for nutritional epidemiology were converted into an ontology. The terms used in the standards were summarized and listed separately in a taxonomic hierarchy. Thirdly, the ontologies of the nutritional epidemiologic standards, reporting guidelines, and the core concepts were gathered in ONE. Three case studies were included to illustrate potential applications: (i) annotation of existing manuscripts and data, (ii) ontology-based inference, and (iii) estimation of reporting completeness in a sample of nine manuscripts.
Results: Ontologies for food and nutrition (n = 37), disease and specific population (n = 100), data description (n = 21), research description (n = 35), and supplementary (meta) data description (n = 44) were reviewed and listed. ONE consists of 339 classes: 79 new classes to describe data and 24 new classes to describe the content of manuscripts.
Conclusion: ONE is a resource to automate data integration, searching, and browsing, and can be used to assess reporting completeness in nutritional epidemiology
A Query Integrator and Manager for the Query Web
We introduce two concepts: the Query Web as a layer of interconnected queries over the document web and the semantic web, and a Query Web Integrator and Manager (QI) that enables the Query Web to evolve. QI permits users to write, save and reuse queries over any web accessible source, including other queries saved in other installations of QI. The saved queries may be in any language (e.g. SPARQL, XQuery); the only condition for interconnection is that the queries return their results in some form of XML. This condition allows queries to chain off each other, and to be written in whatever language is appropriate for the task. We illustrate the potential use of QI for several biomedical use cases, including ontology view generation using a combination of graph-based and logical approaches, value set generation for clinical data management, image annotation using terminology obtained from an ontology web service, ontology-driven brain imaging data integration, small-scale clinical data integration, and wider-scale clinical data integration. Such use cases illustrate the current range of applications of QI and lead us to speculate about the potential evolution from smaller groups of interconnected queries into a larger query network that layers over the document and semantic web. The resulting Query Web could greatly aid researchers and others who now have to manually navigate through multiple information sources in order to answer specific questions
Systematic Analysis of COVID-19 Ontologies
This comprehensive study conducts an in-depth analysis of existing COVID-19
ontologies, scrutinizing their objectives, classifications, design
methodologies, and domain focal points. The study is conducted through a
dual-stage approach, commencing with a systematic review of relevant literature
and followed by an ontological assessment utilizing a parametric methodology.
Through this meticulous process, twenty-four COVID-19 Ontologies (CovOs) are
selected and examined. The findings highlight the scope, intended purpose,
granularity of ontology, modularity, formalism, vocabulary reuse, and extent of
domain coverage. The analysis reveals varying levels of formality in ontology
development, a prevalent preference for utilizing OWL as the representational
language, and diverse approaches to constructing class hierarchies within the
models. Noteworthy is the recurrent reuse of ontologies like OBO models (CIDO,
GO, etc.) alongside CODO. The METHONTOLOGY approach emerges as a favored design
methodology, often coupled with application-based or data-centric evaluation
methods. Our study provides valuable insights for the scientific community and
COVID-19 ontology developers, supplemented by comprehensive ontology metrics.
By meticulously evaluating and documenting COVID-19 information-driven
ontological models, this research offers a comparative cross-domain
perspective, shedding light on knowledge representation variations. The present
study significantly enhances understanding of CovOs, serving as a consolidated
resource for comparative analysis and future development, while also
pinpointing research gaps and domain emphases, thereby guiding the trajectory
of future ontological advancements.Comment: 16 pages, accepted for publication in 17th International Conference
on Metadata and Semantics Research (MTSR2023), University of Milano-Bicocca,
Milan, Italy, October 23-27, 202
Analysis of the suitability of existing medical ontologies for building a scalable semantic interoperability solution supporting multi-site collaboration in oncology
Semantic interoperability is essential to facilitate efficient collaboration in heterogeneous multi-site healthcare environments. The deployment of a semantic interoperability solution has the potential to enable a wide range of informatics supported applications in clinical care and research both within as ingle healthcare organization and in a network of organizations. At the same time, building and deploying a semantic interoperability solution may require significant effort to carryout data transformation and to harmonize the semantics of the information in the different systems. Our approach to semantic interoperability leverages existing healthcare standards and ontologies, focusing first on specific clinical domains and key applications, and gradually expanding the solution when needed. An important objective of this work is to create a semantic link between clinical research and care environments to enable applications such as streamlining the execution of multi-centric clinical trials, including the identification of eligible patients for the trials. This paper presents an analysis of the suitability of several widely-used medical ontologies in the clinical domain: SNOMED-CT, LOINC, MedDRA, to capture the semantics of the clinical trial eligibility criteria, of the clinical trial data (e.g., Clinical Report Forms), and of the corresponding patient record data that would enable the automatic identification of eligible patients. Next to the coverage provided by the ontologies we evaluate and compare the sizes of the sets of relevant concepts and their relative frequency to estimate the cost of data transformation, of building the necessary semantic mappings, and of extending the solution to new domains. This analysis shows that our approach is both feasible and scalable
Harnessing the power of unified metadata in an ontology repository: The case of AgroPortal
As any resources, ontologies, thesaurus, vocabularies and terminologies need to be described with relevant metadata to facilitate their identification, selection and reuse. For ontologies to be FAIR, there is a need for metadata authoring guidelines and for harmonization of existing metadata vocabularies—taken independently none of them can completely describe an ontology. Ontology libraries and repositories also have to play an important role. Indeed, some metadata properties are intrinsic to the ontology (name, license, description); other information, such as community feedbacks or relations to other ontologies are typically information that an ontology library shall capture, populate and consolidate to facilitate the processes of identifying and selecting the right ontology(ies) to use. We have studied ontology metadata practices by: (1) analyzing metadata annotations of 805 ontologies; (2) reviewing the most standard and relevant vocabularies (23 totals) currently available to describe metadata for ontologies (such as Dublin Core, Ontology Metadata Vocabulary, VoID, etc.); (3) comparing different metadata implementation in multiple ontology libraries or repositories. We have then built a new metadata model for our AgroPortal vocabulary and ontology repository, a platform dedicated to agronomy based on the NCBO BioPortal technology. AgroPortal now recognizes 346 properties from existing metadata vocabularies that could be used to describe different aspects of ontologies: intrinsic descriptions, people, date, relations, content, metrics, community, administration, and access. We use them to populate an internal model of 127 properties implemented in the portal and harmonized for all the ontologies. We—and AgroPortal's users—have spent a significant amount of time to edit and curate the metadata of the ontologies to offer a better synthetized and harmonized information and enable new ontology identification features. Our goal was also to facilitate the comprehension of the agronomical ontology landscape by displaying diagrams and charts about all the ontologies on the portal. We have evaluated our work with a user appreciation survey which confirms the new features are indeed relevant and helpful to ease the processes of identification and selection of ontologies. This paper presents how to harness the potential of a complete and unified metadata model with dedicated features in an ontology repository; however, the new AgroPortal's model is not a new vocabulary as it relies on preexisting ones. A generalization of this work is studied in a community-driven standardization effort in the context of the RDA Vocabulary and Semantic Services Interest Group
Application of Semantics to Solve Problems in Life Sciences
Fecha de lectura de Tesis: 10 de diciembre de 2018La cantidad de información que se genera en la Web se ha incrementado en los últimos años. La mayor parte de esta información se encuentra accesible en texto, siendo el ser humano el principal usuario de la Web. Sin embargo, a pesar de todos los avances producidos en el área del procesamiento del lenguaje natural, los ordenadores tienen problemas para procesar esta información textual. En este cotexto, existen dominios de aplicación en los que se están publicando grandes cantidades de información disponible como datos estructurados como en el área de las Ciencias de la Vida. El análisis de estos datos es de vital importancia no sólo para el avance de la ciencia, sino para producir avances en el ámbito de la salud. Sin embargo, estos datos están localizados en diferentes repositorios y almacenados en diferentes formatos que hacen difÃcil su integración. En este contexto, el paradigma de los Datos Vinculados como una tecnologÃa que incluye la aplicación de algunos estándares propuestos por la comunidad W3C tales como HTTP URIs, los estándares RDF y OWL. Haciendo uso de esta tecnologÃa, se ha desarrollado esta tesis doctoral basada en cubrir los siguientes objetivos principales: 1) promover el uso de los datos vinculados por parte de la comunidad de usuarios del ámbito de las Ciencias de la Vida 2) facilitar el diseño de consultas SPARQL mediante el descubrimiento del modelo subyacente en los repositorios RDF 3) crear un entorno colaborativo que facilite el consumo de Datos Vinculados por usuarios finales, 4) desarrollar un algoritmo que, de forma automática, permita descubrir el modelo semántico en OWL de un repositorio RDF, 5) desarrollar una representación en OWL de ICD-10-CM llamada Dione que ofrezca una metodologÃa automática para la clasificación de enfermedades de pacientes y su posterior validación haciendo uso de un razonador OWL
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