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

The Semantic Web Revisited

The original Scientific American article on the Semantic Web appeared in 2001. It described the evolution of a Web that consisted largely of documents for humans to read to one that included data and information for computers to manipulate. The Semantic Web is a Web of actionable information--information derived from data through a semantic theory for interpreting the symbols.This simple idea, however, remains largely unrealized. Shopbots and auction bots abound on the Web, but these are essentially handcrafted for particular tasks; they have little ability to interact with heterogeneous data and information types. Because we haven't yet delivered large-scale, agent-based mediation, some commentators argue that the Semantic Web has failed to deliver. We argue that agents can only flourish when standards are well established and that the Web standards for expressing shared meaning have progressed steadily over the past five years. Furthermore, we see the use of ontologies in the e-science community presaging ultimate success for the Semantic Web--just as the use of HTTP within the CERN particle physics community led to the revolutionary success of the original Web. This article is part of a special issue on the Future of AI

A Life Cycle Approach to the Development and Validation of an Ontology of the U.S. Common Rule (45 C.F.R. § 46)

Requirements for the protection of human research subjects stem from directly from federal regulation by the Department of Health and Human Services in Title 45 of the Code of Federal Regulations (C.F.R.) part 46. 15 other federal agencies include subpart A of part 46 verbatim in their own body of regulation. Hence 45 C.F.R. part 46 subpart A has come to be called colloquially the ‘Common Rule.’ Overall motivation for this study began as a desire to facilitate the ethical sharing of biospecimen samples from large biospecimen collections by using ontologies. Previous work demonstrated that in general the informed consent process and subsequent decision making about data and specimen release still relies heavily on paper-based informed consent forms and processes. Consequently, well-validated computable models are needed to provide an enhanced foundation for data sharing. This dissertation describes the development and validation of a Common Rule Ontology (CRO), expressed in the OWL-2 Web Ontology Language, and is intended to provide a computable semantic knowledge model for assessing and representing components of the information artifacts of required as part of regulated research under 45 C.F.R. § 46. I examine if the alignment of this ontology with the Basic Formal Ontology and other ontologies from the Open Biomedical Ontology (OBO) Foundry provide a good fit for the regulatory aspects of the Common Rule Ontology. The dissertation also examines and proposes a new method for ongoing evaluation of ontology such as CRO across the ontology development lifecycle and suggest methods to achieve high quality, validated ontologies. While the CRO is not in itself intended to be a complete solution to the data and specimen sharing problems outlined above, it is intended to produce a well-validated computationally grounded framework upon which others can build. This model can be used in future work to build decision support systems to assist Institutional Review Boards (IRBs), regulatory personnel, honest brokers, tissue bank managers, and other individuals in the decision-making process involving biorepository specimen and data sharing

Decision support system for in-flight emergency events

Medical problems during flight have become an important issue as the number of passengers and miles flown continues to increase. The case of an incident in the plane falls within the scope of the healthcare management in the context of scarce resources associated with isolation of medical actors working in very complex conditions, both in terms of human and material resources. Telemedicine uses information and communication technologies to provide remote and flexible medical services, especially for geographically isolated people. Therefore, telemedicine can generate interesting solutions to the medical problems during flight. Our aim is to build a knowledge-based system able to help health professionals or staff members addressing an urgent situation by given them relevant information, some knowledge, and some judicious advice. In this context, knowledge representation and reasoning can be correctly realized using an ontology that is a representation of concepts, their attributes, and the relationships between them in a particular domain. Particularly, a medical ontology is a formal representation of a vocabulary related to a specific health domain. We propose a new approach to explain the arrangement of different ontological models (task ontology, inference ontology, and domain ontology), which are useful for monitoring remote medical activities and generating required information. These layers of ontologies facilitate the semantic modeling and structuring of health information. The incorporation of existing ontologies [for instance, Systematic Nomenclature Medical Clinical Terms (SNOMED CT)] guarantees improved health concept coverage with experienced knowledge. The proposal comprises conceptual means to generate substantial reasoning and relevant knowledge supporting telemedicine activities during the management of a medical incident and its characterization in the context of air travel. The considered modeling framework is sufficiently generic to cover complex medical situations for isolated and vulnerable populations needing some care and support services

Advanced Knowledge Technologies at the Midterm: Tools and Methods for the Semantic Web

The University of Edinburgh and research sponsors are authorised to reproduce and distribute reprints and on-line copies for their purposes notwithstanding any copyright annotation hereon. The views and conclusions contained herein are the author’s and shouldn’t be interpreted as necessarily representing the official policies or endorsements, either expressed or implied, of other parties.In a celebrated essay on the new electronic media, Marshall McLuhan wrote in 1962:Our private senses are not closed systems but are endlessly translated into each other in that experience which we call consciousness. Our extended senses, tools, technologies, through the ages, have been closed systems incapable of interplay or collective awareness. Now, in the electric age, the very instantaneous nature of co-existence among our technological instruments has created a crisis quite new in human history. Our extended faculties and senses now constitute a single field of experience which demands that they become collectively conscious. Our technologies, like our private senses, now demand an interplay and ratio that makes rational co-existence possible. As long as our technologies were as slow as the wheel or the alphabet or money, the fact that they were separate, closed systems was socially and psychically supportable. This is not true now when sight and sound and movement are simultaneous and global in extent. (McLuhan 1962, p.5, emphasis in original)Over forty years later, the seamless interplay that McLuhan demanded between our technologies is still barely visible. McLuhan’s predictions of the spread, and increased importance, of electronic media have of course been borne out, and the worlds of business, science and knowledge storage and transfer have been revolutionised. Yet the integration of electronic systems as open systems remains in its infancy.Advanced Knowledge Technologies (AKT) aims to address this problem, to create a view of knowledge and its management across its lifecycle, to research and create the services and technologies that such unification will require. Half way through its sixyear span, the results are beginning to come through, and this paper will explore some of the services, technologies and methodologies that have been developed. We hope to give a sense in this paper of the potential for the next three years, to discuss the insights and lessons learnt in the first phase of the project, to articulate the challenges and issues that remain.The WWW provided the original context that made the AKT approach to knowledge management (KM) possible. AKT was initially proposed in 1999, it brought together an interdisciplinary consortium with the technological breadth and complementarity to create the conditions for a unified approach to knowledge across its lifecycle. The combination of this expertise, and the time and space afforded the consortium by the IRC structure, suggested the opportunity for a concerted effort to develop an approach to advanced knowledge technologies, based on the WWW as a basic infrastructure.The technological context of AKT altered for the better in the short period between the development of the proposal and the beginning of the project itself with the development of the semantic web (SW), which foresaw much more intelligent manipulation and querying of knowledge. The opportunities that the SW provided for e.g., more intelligent retrieval, put AKT in the centre of information technology innovation and knowledge management services; the AKT skill set would clearly be central for the exploitation of those opportunities.The SW, as an extension of the WWW, provides an interesting set of constraints to the knowledge management services AKT tries to provide. As a medium for the semantically-informed coordination of information, it has suggested a number of ways in which the objectives of AKT can be achieved, most obviously through the provision of knowledge management services delivered over the web as opposed to the creation and provision of technologies to manage knowledge.AKT is working on the assumption that many web services will be developed and provided for users. The KM problem in the near future will be one of deciding which services are needed and of coordinating them. Many of these services will be largely or entirely legacies of the WWW, and so the capabilities of the services will vary. As well as providing useful KM services in their own right, AKT will be aiming to exploit this opportunity, by reasoning over services, brokering between them, and providing essential meta-services for SW knowledge service management.Ontologies will be a crucial tool for the SW. The AKT consortium brings a lot of expertise on ontologies together, and ontologies were always going to be a key part of the strategy. All kinds of knowledge sharing and transfer activities will be mediated by ontologies, and ontology management will be an important enabling task. Different applications will need to cope with inconsistent ontologies, or with the problems that will follow the automatic creation of ontologies (e.g. merging of pre-existing ontologies to create a third). Ontology mapping, and the elimination of conflicts of reference, will be important tasks. All of these issues are discussed along with our proposed technologies.Similarly, specifications of tasks will be used for the deployment of knowledge services over the SW, but in general it cannot be expected that in the medium term there will be standards for task (or service) specifications. The brokering metaservices that are envisaged will have to deal with this heterogeneity.The emerging picture of the SW is one of great opportunity but it will not be a wellordered, certain or consistent environment. It will comprise many repositories of legacy data, outdated and inconsistent stores, and requirements for common understandings across divergent formalisms. There is clearly a role for standards to play to bring much of this context together; AKT is playing a significant role in these efforts. But standards take time to emerge, they take political power to enforce, and they have been known to stifle innovation (in the short term). AKT is keen to understand the balance between principled inference and statistical processing of web content. Logical inference on the Web is tough. Complex queries using traditional AI inference methods bring most distributed computer systems to their knees. Do we set up semantically well-behaved areas of the Web? Is any part of the Web in which semantic hygiene prevails interesting enough to reason in? These and many other questions need to be addressed if we are to provide effective knowledge technologies for our content on the web

A Learning Health System for Radiation Oncology

The proposed research aims to address the challenges faced by clinical data science researchers in radiation oncology accessing, integrating, and analyzing heterogeneous data from various sources. The research presents a scalable intelligent infrastructure, called the Health Information Gateway and Exchange (HINGE), which captures and structures data from multiple sources into a knowledge base with semantically interlinked entities. This infrastructure enables researchers to mine novel associations and gather relevant knowledge for personalized clinical outcomes. The dissertation discusses the design framework and implementation of HINGE, which abstracts structured data from treatment planning systems, treatment management systems, and electronic health records. It utilizes disease-specific smart templates for capturing clinical information in a discrete manner. HINGE performs data extraction, aggregation, and quality and outcome assessment functions automatically, connecting seamlessly with local IT/medical infrastructure. Furthermore, the research presents a knowledge graph-based approach to map radiotherapy data to an ontology-based data repository using FAIR (Findable, Accessible, Interoperable, Reusable) concepts. This approach ensures that the data is easily discoverable and accessible for clinical decision support systems. The dissertation explores the ETL (Extract, Transform, Load) process, data model frameworks, ontologies, and provides a real-world clinical use case for this data mapping. To improve the efficiency of retrieving information from large clinical datasets, a search engine based on ontology-based keyword searching and synonym-based term matching tool was developed. The hierarchical nature of ontologies is leveraged to retrieve patient records based on parent and children classes. Additionally, patient similarity analysis is conducted using vector embedding models (Word2Vec, Doc2Vec, GloVe, and FastText) to identify similar patients based on text corpus creation methods. Results from the analysis using these models are presented. The implementation of a learning health system for predicting radiation pneumonitis following stereotactic body radiotherapy is also discussed. 3D convolutional neural networks (CNNs) are utilized with radiographic and dosimetric datasets to predict the likelihood of radiation pneumonitis. DenseNet-121 and ResNet-50 models are employed for this study, along with integrated gradient techniques to identify salient regions within the input 3D image dataset. The predictive performance of the 3D CNN models is evaluated based on clinical outcomes. Overall, the proposed Learning Health System provides a comprehensive solution for capturing, integrating, and analyzing heterogeneous data in a knowledge base. It offers researchers the ability to extract valuable insights and associations from diverse sources, ultimately leading to improved clinical outcomes. This work can serve as a model for implementing LHS in other medical specialties, advancing personalized and data-driven medicine

Enabling quantitative data analysis through e-infrastructures

This paper discusses how quantitative data analysis in the social sciences can engage with and exploit an e-Infrastructure. We highlight how a number of activities which are central to quantitative data analysis, referred to as ‘data management’, can benefit from e-infrastructure support. We conclude by discussing how these issues are relevant to the DAMES (Data Management through e-Social Science) research Node, an ongoing project that aims to develop e-Infrastructural resources for quantitative data analysis in the social sciences

Semantic Ontologies for Complex Healthcare Structures: A Scoping Review

The healthcare environment is made up of highly complicated interactions between many technologies, activities, and people. Ensuring a solid communication between them is vital to ease the healthcare management. Semantic ontologies are knowledge representation tools that implement abstractions to fully describe a given topic in terms of subjects and relations. This scoping review aims to identify and analyse available ontologies which can depict all the available use-cases that describe the hospital environment in relation to the European project ODIN and its future expansion. The review has been conducted on the Scopus database on January 13th, 2023 using the PRISMA extensions for scoping reviews. Two reviewers screened 3,225 documents emerged from the database search. Further filtering led to a final set of 32 articles to be analysed for the results. A set of 34 ontologies extracted by the identified articles has been analysed and discussed as well. The results of this study will lead to the implementation of a common integrated ontology which could hold information about healthcare entities as well as their semantic relationships, strengthen data exchange and interconnections among people, devices and applications in an expanded scenario which include Internet of Things, robots and Artificial Intelligence

Linked Data based Health Information Representation, Visualization and Retrieval System on the Semantic Web

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.To better facilitate health information dissemination, using flexible ways to represent, query and visualize health data becomes increasingly important. Semantic Web technologies, which provide a common framework by allowing data to be shared and reused between applications, can be applied to the management of health data. Linked open data - a new semantic web standard to publish and link heterogonous data- allows not only human, but also machine to brows data in unlimited way. Through a use case of world health organization HIV data of sub Saharan Africa - which is severely affected by HIV epidemic, this thesis built a linked data based health information representation, querying and visualization system. All the data was represented with RDF, by interlinking it with other related datasets, which are already on the cloud. Over all, the system have more than 21,000 triples with a SPARQL endpoint; where users can download and use the data and – a SPARQL query interface where users can put different type of query and retrieve the result. Additionally, It has also a visualization interface where users can visualize the SPARQL result with a tool of their preference. For users who are not familiar with SPARQL queries, they can use the linked data search engine interface to search and browse the data. From this system we can depict that current linked open data technologies have a big potential to represent heterogonous health data in a flexible and reusable manner and they can serve in intelligent queries, which can support decision-making. However, in order to get the best from these technologies, improvements are needed both at the level of triple stores performance and domain-specific ontological vocabularies

Validation of automatic similarity measures

Tese de mestrado em Bioinformática e Biologia Computacional, Universidade de Lisboa, Faculdade de Ciências, 2020A capacidade para comparar automaticamente duas entidades biomédicas (p. ex. doenças, vias metabólicas ou artigos científicos) permite que os computadores raciocinem sobre o conhecimento científico. Assim sendo, fazer a validação destas medidas é essencial para garantir que os resultados produzidos por elas reflictam o actual conhecimento colectivo sobre o respectivo domínio. Uma das estratégias para avaliar se a medida é precisa e funcional é a validação manual por parte de peritos. Contudo, este processo é ineficiente devido a toda a pesquisa secundária necessária para o fazer, o que significa que compilar grandes conjuntos de dados de valores de semelhança atribuídos por humanos é uma tarefa difícil. “Manual Validation Helper Tool” (MVHT) é uma aplicação web criada com o intuito de acelerar esta validação manual, em conjunto com um formato capaz de acomodar os diversos tipos de dados em forma de anotações, provenientes de diferentes ontologias ou domínios. MVHT foi testada em quatro datasets distintos e um deles foi apresentado a utilizadores piloto para que dessem o seu feedback acerca do que poderia ser melhorado na aplicação, bem como para se obter um gold-standard de semelhança manual. Com o seu auxílio, a ferramenta foi optimizada e encontra-se acessível para ser usada por criadores de medidas de semelhança semântica, que por sua vez podem partilhar os seus datasets de forma prática, os quais peritos podem visitar e rapidamente começar a comparar pares de entidades.The ability to automatically compare two biomedical entities (e.g. diseases, biochemical pathways, papers) enables the use of computers to reason over scientific knowledge. As such, validating these measures is essential to ensure that the results they produce reflect the current community knowledge on the respective domain. Manual validation by experts is one of the strategies to assess whether a measure is sound and accurate. However, this is an inefficient process because of the secondary research required to do so, which means that compiling large datasets of human-curated similarity values is difficult. The “Manual Validation Helper Tool” (MVHT) is a web application created to accelerate this manual validation, coupled to a format that can accommodate different types of data in the form of annotations, from different domains or ontologies. MVHT was tested on four distinct datasets and one of them was given to pilot users so they could provide feedback on the application, as well as to gather a gold-standard of manual similarity. With their help the tool was optimized and is accessible to be used by creators of semantic similarity measures, who can share their datasets in a more practical way via generated URLs, which other people can visit and quickly start comparing pairs of entities