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

Crowdsourcing Linked Data on listening experiences through reuse and enhancement of library data

Research has approached the practice of musical reception in a multitude of ways, such as the analysis of professional critique, sales figures and psychological processes activated by the act of listening. Studies in the Humanities, on the other hand, have been hindered by the lack of structured evidence of actual experiences of listening as reported by the listeners themselves, a concern that was voiced since the early Web era. It was however assumed that such evidence existed, albeit in pure textual form, but could not be leveraged until it was digitised and aggregated. The Listening Experience Database (LED) responds to this research need by providing a centralised hub for evidence of listening in the literature. Not only does LED support search and reuse across nearly 10,000 records, but it also provides machine-readable structured data of the knowledge around the contexts of listening. To take advantage of the mass of formal knowledge that already exists on the Web concerning these contexts, the entire framework adopts Linked Data principles and technologies. This also allows LED to directly reuse open data from the British Library for the source documentation that is already published. Reused data are re-published as open data with enhancements obtained by expanding over the model of the original data, such as the partitioning of published books and collections into individual stand-alone documents. The database was populated through crowdsourcing and seamlessly incorporates data reuse from the very early data entry phases. As the sources of the evidence often contain vague, fragmentary of uncertain information, facilities were put in place to generate structured data out of such fuzziness. Alongside elaborating on these functionalities, this article provides insights into the most recent features of the latest instalment of the dataset and portal, such as the interlinking with the MusicBrainz database, the relaxation of geographical input constraints through text mining, and the plotting of key locations in an interactive geographical browser

Knowledge-based Biomedical Data Science 2019

Knowledge-based biomedical data science (KBDS) involves the design and implementation of computer systems that act as if they knew about biomedicine. Such systems depend on formally represented knowledge in computer systems, often in the form of knowledge graphs. Here we survey the progress in the last year in systems that use formally represented knowledge to address data science problems in both clinical and biological domains, as well as on approaches for creating knowledge graphs. Major themes include the relationships between knowledge graphs and machine learning, the use of natural language processing, and the expansion of knowledge-based approaches to novel domains, such as Chinese Traditional Medicine and biodiversity.Comment: Manuscript 43 pages with 3 tables; Supplemental material 43 pages with 3 table

Interoperability and FAIRness through a novel combination of Web technologies

Data in the life sciences are extremely diverse and are stored in a broad spectrum of repositories ranging from those designed for particular data types (such as KEGG for pathway data or UniProt for protein data) to those that are general-purpose (such as FigShare, Zenodo, Dataverse or EUDAT). These data have widely different levels of sensitivity and security considerations. For example, clinical observations about genetic mutations in patients are highly sensitive, while observations of species diversity are generally not. The lack of uniformity in data models from one repository to another, and in the richness and availability of metadata descriptions, makes integration and analysis of these data a manual, time-consuming task with no scalability. Here we explore a set of resource-oriented Web design patterns for data discovery, accessibility, transformation, and integration that can be implemented by any general- or special-purpose repository as a means to assist users in finding and reusing their data holdings. We show that by using off-the-shelf technologies, interoperability can be achieved atthe level of an individual spreadsheet cell. We note that the behaviours of this architecture compare favourably to the desiderata defined by the FAIR Data Principles, and can therefore represent an exemplar implementation of those principles. The proposed interoperability design patterns may be used to improve discovery and integration of both new and legacy data, maximizing the utility of all scholarly outputs

Privacy-Preserving Reengineering of Model-View-Controller Application Architectures Using Linked Data

When a legacy system’s software architecture cannot be redesigned, implementing additional privacy requirements is often complex, unreliable and costly to maintain. This paper presents a privacy-by-design approach to reengineer web applications as linked data-enabled and implement access control and privacy preservation properties. The method is based on the knowledge of the application architecture, which for the Web of data is commonly designed on the basis of a model-view-controller pattern. Whereas wrapping techniques commonly used to link data of web applications duplicate the security source code, the new approach allows for the controlled disclosure of an application’s data, while preserving non-functional properties such as privacy preservation. The solution has been implemented and compared with existing linked data frameworks in terms of reliability, maintainability and complexity