Discovering Beaten Paths in Collaborative Ontology-Engineering Projects using Markov Chains

Biomedical taxonomies, thesauri and ontologies in the form of the International Classification of Diseases (ICD) as a taxonomy or the National Cancer Institute Thesaurus as an OWL-based ontology, play a critical role in acquiring, representing and processing information about human health. With increasing adoption and relevance, biomedical ontologies have also significantly increased in size. For example, the 11th revision of the ICD, which is currently under active development by the WHO contains nearly 50,000 classes representing a vast variety of different diseases and causes of death. This evolution in terms of size was accompanied by an evolution in the way ontologies are engineered. Because no single individual has the expertise to develop such large-scale ontologies, ontology-engineering projects have evolved from small-scale efforts involving just a few domain experts to large-scale projects that require effective collaboration between dozens or even hundreds of experts, practitioners and other stakeholders. Understanding how these stakeholders collaborate will enable us to improve editing environments that support such collaborations. We uncover how large ontology-engineering projects, such as the ICD in its 11th revision, unfold by analyzing usage logs of five different biomedical ontology-engineering projects of varying sizes and scopes using Markov chains. We discover intriguing interaction patterns (e.g., which properties users subsequently change) that suggest that large collaborative ontology-engineering projects are governed by a few general principles that determine and drive development. From our analysis, we identify commonalities and differences between different projects that have implications for project managers, ontology editors, developers and contributors working on collaborative ontology-engineering projects and tools in the biomedical domain.Comment: Published in the Journal of Biomedical Informatic

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

Next generation assisting clinical applications by using semantic-aware electronic health records

The health care sector is no longer imaginable without electronic health records. However; since the original idea of electronic health records was focused on data storage and not on data processing, a lot of current implementations do not take full advantage of the opportunities provided by computerization. This paper introduces the Patient Summary Ontology for the representation of electronic health records and demonstrates the possibility to create next generation assisting clinical applications based on these semantic-aware electronic health records. Also, an architecture to interoperate with electronic health records formatted using other standards is presented

SNOMED CT standard ontology based on the ontology for general medical science

Background: Systematized Nomenclature of Medicine—Clinical Terms (SNOMED CT, hereafter abbreviated SCT) is acomprehensive medical terminology used for standardizing the storage, retrieval, and exchange of electronic healthdata. Some efforts have been made to capture the contents of SCT as Web Ontology Language (OWL), but theseefforts have been hampered by the size and complexity of SCT. Method: Our proposal here is to develop an upper-level ontology and to use it as the basis for defining the termsin SCT in a way that will support quality assurance of SCT, for example, by allowing consistency checks ofdefinitions and the identification and elimination of redundancies in the SCT vocabulary. Our proposed upper-levelSCT ontology (SCTO) is based on the Ontology for General Medical Science (OGMS). Results: The SCTO is implemented in OWL 2, to support automatic inference and consistency checking. Theapproach will allow integration of SCT data with data annotated using Open Biomedical Ontologies (OBO) Foundryontologies, since the use of OGMS will ensure consistency with the Basic Formal Ontology, which is the top-levelontology of the OBO Foundry. Currently, the SCTO contains 304 classes, 28 properties, 2400 axioms, and 1555annotations. It is publicly available through the bioportal athttp://bioportal.bioontology.org/ontologies/SCTO/. Conclusion: The resulting ontology can enhance the semantics of clinical decision support systems and semanticinteroperability among distributed electronic health records. In addition, the populated ontology can be used forthe automation of mobile health applications

Conceptual graph-based knowledge representation for supporting reasoning in African traditional medicine

Although African patients use both conventional or modern and traditional healthcare simultaneously, it has been proven that 80% of people rely on African traditional medicine (ATM). ATM includes medical activities stemming from practices, customs and traditions which were integral to the distinctive African cultures. It is based mainly on the oral transfer of knowledge, with the risk of losing critical knowledge. Moreover, practices differ according to the regions and the availability of medicinal plants. Therefore, it is necessary to compile tacit, disseminated and complex knowledge from various Tradi-Practitioners (TP) in order to determine interesting patterns for treating a given disease. Knowledge engineering methods for traditional medicine are useful to model suitably complex information needs, formalize knowledge of domain experts and highlight the effective practices for their integration to conventional medicine. The work described in this paper presents an approach which addresses two issues. First it aims at proposing a formal representation model of ATM knowledge and practices to facilitate their sharing and reusing. Then, it aims at providing a visual reasoning mechanism for selecting best available procedures and medicinal plants to treat diseases. The approach is based on the use of the Delphi method for capturing knowledge from various experts which necessitate reaching a consensus. Conceptual graph formalism is used to model ATM knowledge with visual reasoning capabilities and processes. The nested conceptual graphs are used to visually express the semantic meaning of Computational Tree Logic (CTL) constructs that are useful for formal specification of temporal properties of ATM domain knowledge. Our approach presents the advantage of mitigating knowledge loss with conceptual development assistance to improve the quality of ATM care (medical diagnosis and therapeutics), but also patient safety (drug monitoring)

Ontologies, Mental Disorders and Prototypes

As it emerged from philosophical analyses and cognitive research, most concepts exhibit typicality effects, and resist to the efforts of defining them in terms of necessary and sufficient conditions. This holds also in the case of many medical concepts. This is a problem for the design of computer science ontologies, since knowledge representation formalisms commonly adopted in this field do not allow for the representation of concepts in terms of typical traits. However, the need of representing concepts in terms of typical traits concerns almost every domain of real world knowledge, including medical domains. In particular, in this article we take into account the domain of mental disorders, starting from the DSM-5 descriptions of some specific mental disorders. On this respect, we favor a hybrid approach to the representation of psychiatric concepts, in which ontology oriented formalisms are combined to a geometric representation of knowledge based on conceptual spaces

An Ontology-Based Framework for a Telehealthcare System to Foster Healthy Nutrition and Active Lifestyle in Older Adults

In recent years, telehealthcare systems (TSs) have become more and more widespread, as they can contribute to promoting the continuity of care and managing chronic conditions efficiently. Most TSs and nutrition recommendation systems require much information to return appropriate suggestions. This work proposes an ontology-based TS, namely HeNuALs, aimed at fostering a healthy diet and an active lifestyle in older adults with chronic pathologies. The system is built on the formalization of users' health conditions, which can be obtained by leveraging existing standards. This allows for modeling different pathologies via reusable knowledge, thus limiting the amount of information needed to retrieve nutritional indications from the system. HeNuALs is composed of (1) an ontological layer that stores patients and their data, food and its characteristics, and physical activity-related data, enabling the inference a series of suggestions based on the effects of foods and exercises on specific health conditions; (2) two applications that allow both the patient and the clinicians to access the data (with different permissions) stored in the ontological layer; and (3) a series of wearable sensors that can be used to monitor physical exercise (provided by the patient application) and to ensure patients' safety. HeNuALs inferences have been validated considering two different use cases. The system revealed the ability to determine suggestions for healthy, adequate, or unhealthy dishes for a patient with respiratory disease and for a patient with diabetes mellitus. Future work foresees the extension of the HeNuALs knowledge base by exploiting automatic knowledge retrieval approaches and validation of the whole system with target users

The Human Disease Ontology 2022 update.

The Human Disease Ontology (DO) (www.disease-ontology.org) database, has significantly expanded the disease content and enhanced our userbase and website since the DO\u27s 2018 Nucleic Acids Research DATABASE issue paper. Conservatively, based on available resource statistics, terms from the DO have been annotated to over 1.5 million biomedical data elements and citations, a 10× increase in the past 5 years. The DO, funded as a NHGRI Genomic Resource, plays a key role in disease knowledge organization, representation, and standardization, serving as a reference framework for multiscale biomedical data integration and analysis across thousands of clinical, biomedical and computational research projects and genomic resources around the world. This update reports on the addition of 1,793 new disease terms, a 14% increase of textual definitions and the integration of 22 137 new SubClassOf axioms defining disease to disease connections representing the DO\u27s complex disease classification. The DO\u27s updated website provides multifaceted etiology searching, enhanced documentation and educational resources

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