Searching Ontologies Based on Content: Experiments in the Biomedical Domain

As more ontologies become publicly available, finding the "right" ontologies becomes much harder. In this paper, we address the problem of ontology search: finding a collection of ontologies from an ontology repository that are relevant to the user's query. In particular, we look at the case when users search for ontologies relevant to a particular topic (e.g., an ontology about anatomy). Ontologies that are most relevant to such query often do not have the query term in the names of their concepts (e.g., the Foundational Model of Anatomy ontology does not have the term "anatomy" in any of its concepts' names). Thus, we present a new ontology-search technique that helps users in these types of searches. When looking for ontologies on a particular topic (e.g., anatomy), we retrieve from the Web a collection of terms that represent the given domain (e.g., terms such as body, brain, skin, etc. for anatomy). We then use these terms to expand the user query. We evaluate our algorithm on queries for topics in the biomedical domain against a repository of biomedical ontologies. We use the results obtained from experts in the biomedical-ontology domain as the gold standard. Our experiments demonstrate that using our method for query expansion improves retrieval results by a 113%, compared to the tools that search only for the user query terms and consider only class and property names (like Swoogle). We show 43% improvement for the case where not only class and property names but also property values are taken into account

A More Decentralized Vision for Linked Data

In this deliberately provocative position paper, we claim that ten years into Linked Data there are still (too?) many unresolved challenges towards arriving at a truly machine-readable and decentralized Web of data. We take a deeper look at the biomedical domain - currently, one of the most promising "adopters" of Linked Data - if we believe the ever-present "LOD cloud" diagram. Herein, we try to highlight and exemplify key technical and non-technical challenges to the success of LOD, and we outline potential solution strategies. We hope that this paper will serve as a discussion basis for a fresh start towards more actionable, truly decentralized Linked Data, and as a call to the community to join forces.Series: Working Papers on Information Systems, Information Business and Operation

BioHackathon series in 2011 and 2012: penetration of ontology and linked data in life science domains

The application of semantic technologies to the integration of biological data and the interoperability of bioinformatics analysis and visualization tools has been the common theme of a series of annual BioHackathons hosted in Japan for the past five years. Here we provide a review of the activities and outcomes from the BioHackathons held in 2011 in Kyoto and 2012 in Toyama. In order to efficiently implement semantic technologies in the life sciences, participants formed various sub-groups and worked on the following topics: Resource Description Framework (RDF) models for specific domains, text mining of the literature, ontology development, essential metadata for biological databases, platforms to enable efficient Semantic Web technology development and interoperability, and the development of applications for Semantic Web data. In this review, we briefly introduce the themes covered by these sub-groups. The observations made, conclusions drawn, and software development projects that emerged from these activities are discussed

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

OHMI: The Ontology of Host-Microbiome Interactions

Host-microbiome interactions (HMIs) are critical for the modulation of biological processes and are associated with several diseases, and extensive HMI studies have generated large amounts of data. We propose that the logical representation of the knowledge derived from these data and the standardized representation of experimental variables and processes can foster integration of data and reproducibility of experiments and thereby further HMI knowledge discovery. A community-based Ontology of Host-Microbiome Interactions (OHMI) was developed following the OBO Foundry principles. OHMI leverages established ontologies to create logically structured representations of microbiomes, microbial taxonomy, host species, host anatomical entities, and HMIs under different conditions and associated study protocols and types of data analysis and experimental results

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

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 difícil su integración. En este contexto, el paradigma de los Datos Vinculados como una tecnología 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 tecnología, 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 metodología automática para la clasificación de enfermedades de pacientes y su posterior validación haciendo uso de un razonador OWL