Semantic processing of EHR data for clinical research

There is a growing need to semantically process and integrate clinical data from different sources for clinical research. This paper presents an approach to integrate EHRs from heterogeneous resources and generate integrated data in different data formats or semantics to support various clinical research applications. The proposed approach builds semantic data virtualization layers on top of data sources, which generate data in the requested semantics or formats on demand. This approach avoids upfront dumping to and synchronizing of the data with various representations. Data from different EHR systems are first mapped to RDF data with source semantics, and then converted to representations with harmonized domain semantics where domain ontologies and terminologies are used to improve reusability. It is also possible to further convert data to application semantics and store the converted results in clinical research databases, e.g. i2b2, OMOP, to support different clinical research settings. Semantic conversions between different representations are explicitly expressed using N3 rules and executed by an N3 Reasoner (EYE), which can also generate proofs of the conversion processes. The solution presented in this paper has been applied to real-world applications that process large scale EHR data.Comment: Accepted for publication in Journal of Biomedical Informatics, 2015, preprint versio

Save up to 99% of your time in mapping validation

Identifying semantic correspondences between different vocabularies has been recognized as a fundamental step towards achieving interoperability. Several manual and automatic techniques have been recently proposed. Fully manual approaches are very precise, but extremely costly. Conversely, automatic approaches tend to fail when domain specific background knowledge is needed. Consequently, they typically require a manual validation step. Yet, when the number of computed correspondences is very large, the validation phase can be very expensive. In order to reduce the problems above, we propose to compute the minimal set of correspondences, that we call the minimal mapping, which are sufficient to compute all the other ones. We show that by concentrating on such correspondences we can save up to 99% of the manual checks required for validation

Resolution of Semantic Heterogeneity in Database Schema Integration Using Formal Ontologies

This paper addresses the problem of handling semantic heterogeneity during database schema integration. We focus on the semantics of terms used as identifiers in schema definitions. Our solution does not rely on the names of the schema elements or the structure of the schemas. Instead, we utilize formal ontologies consisting of intensional definitions of terms represented in a logical language. The approach is based on similarity relations between intensional definitions in different ontologies. We present the definitions of similarity relations based on intensional definitions in formal ontologies. The extensional consequences of intensional relations are addressed. The paper shows how similarity relations are discovered by a reasoning system using a higher-level ontology. These similarity relations are then used to derive an integrated schema in two steps. First, we show how to use similarity relations to generate the class hierarchy of the global schema. Second, we explain how to enhance the class definitions with attributes. This approach reduces the cost of generating or re-generating global schemas for tightly-coupled federated database

Integration of prostate cancer clinical data using an ontology

AbstractIt is increasingly important for investigators to efficiently and effectively access, interpret, and analyze the data from diverse biological, literature, and annotation sources in a unified way. The heterogeneity of biomedical data and the lack of metadata are the primary sources of the difficulty for integration, presenting major challenges to effective search and retrieval of the information. As a proof of concept, the Prostate Cancer Ontology (PCO) is created for the development of the Prostate Cancer Information System (PCIS). PCIS is applied to demonstrate how the ontology is utilized to solve the semantic heterogeneity problem from the integration of two prostate cancer related database systems at the Fox Chase Cancer Center. As the results of the integration process, the semantic query language SPARQL is applied to perform the integrated queries across the two database systems based on PCO

UK utility data integration: overcoming schematic heterogeneity

In this paper we discuss syntactic, semantic and schematic issues which inhibit the integration of utility data in the UK. We then focus on the techniques employed within the VISTA project to overcome schematic heterogeneity. A Global Schema based architecture is employed. Although automated approaches to Global Schema definition were attempted the heterogeneities of the sector were too great. A manual approach to Global Schema definition was employed. The techniques used to define and subsequently map source utility data models to this schema are discussed in detail. In order to ensure a coherent integrated model, sub and cross domain validation issues are then highlighted. Finally the proposed framework and data flow for schematic integration is introduced

Supporting Tools for Automated Generation and Visual Editing of Relational-to-Ontology Mappings

La integració de dades amb formats heterogenis i de diversos dominis mitjançant tecnologies de la web semàntica permet solucionar la seva disparitat estructural i semàntica. L'accés a dades basat en ontologies (OBDA, en anglès) és una solució integral que es basa en l'ús d'ontologies com esquemes mediadors i el mapatge entre les dades i les ontologies per facilitar la consulta de les fonts de dades. No obstant això, una de les principals barreres que pot dificultar més l'adopció de OBDA és la manca d'eines per donar suport a la creació de mapatges entre dades i ontologies. L'objectiu d'aquesta investigació ha estat desenvolupar noves eines que permetin als experts sense coneixements d'ontologies la creació de mapatges entre dades i ontologies. Amb aquesta finalitat, s'han dut a terme dues línies de treball: la generació automàtica de mapatges entre dades relacionals i ontologies i l'edició dels mapatges a través de la seva representació visual. Les eines actualment disponibles per automatitzar la generació de mapatges estan lluny de proporcionar una solució completa, ja que es basen en els esquemes relacionals i amb prou feines tenen en compte els continguts de la font de dades relacional i les característiques de l'ontologia. No obstant això, les dades poden contenir relacions ocultes que poden ajudar a la generació de mapatges. Per superar aquesta limitació, hem desenvolupat AutoMap4OBDA, un sistema que genera automàticament mapatges R2RML a partir de l'anàlisi dels continguts de la font relacional i tenint en compte les característiques de l'ontologia. El sistema fa servir una tècnica d'aprenentatge d'ontologies per inferir jerarquies de classes, selecciona les mètriques de similitud de cadenes en base a les etiquetes de les ontologies i analitza les estructures de grafs per generar els mapatges a partir de l'estructura de l'ontologia. La representació visual per mitjà d'interfícies intuïtives pot ajudar els usuaris sense coneixements tècnics a establir mapatges entre una font relacional i una ontologia. No obstant això, les eines existents per a l'edició visual de mapatges mostren algunes limitacions. En particular, la representació visual de mapatges no contempla les estructures de la font relacional i de l'ontologia de forma conjunta. Per superar aquest inconvenient, hem desenvolupat Map-On, un entorn visual web per a l'edició manual de mapatges. AutoMap4OBDA ha demostrat que supera les prestacions de les solucions existents per a la generació de mapatges. Map-On s'ha aplicat en projectes d'investigació per verificar la seva eficàcia en la gestió de mapatges.La integración de datos con formatos heterogéneos y de diversos dominios mediante tecnologías de la Web Semántica permite solventar su disparidad estructural y semántica. El acceso a datos basado en ontologías (OBDA, en inglés) es una solución integral que se basa en el uso de ontologías como esquemas mediadores y mapeos entre los datos y las ontologías para facilitar la consulta de las fuentes de datos. Sin embargo, una de las principales barreras que puede dificultar más la adopción de OBDA es la falta de herramientas para apoyar la creación de mapeos entre datos y ontologías. El objetivo de esta investigación ha sido desarrollar nuevas herramientas que permitan a expertos sin conocimientos de ontologías la creación de mapeos entre datos y ontologías. Con este fin, se han llevado a cabo dos líneas de trabajo: la generación automática de mapeos entre datos relacionales y ontologías y la edición de los mapeos a través de su representación visual. Las herramientas actualmente disponibles para automatizar la generación de mapeos están lejos de proporcionar una solución completa, ya que se basan en los esquemas relacionales y apenas tienen en cuenta los contenidos de la fuente de datos relacional y las características de la ontología. Sin embargo, los datos pueden contener relaciones ocultas que pueden ayudar a la generación de mapeos. Para superar esta limitación, hemos desarrollado AutoMap4OBDA, un sistema que genera automáticamente mapeos R2RML a partir del análisis de los contenidos de la fuente relacional y teniendo en cuenta las características de la ontología. El sistema emplea una técnica de aprendizaje de ontologías para inferir jerarquías de clases, selecciona las métricas de similitud de cadenas en base a las etiquetas de las ontologías y analiza las estructuras de grafos para generar los mapeos a partir de la estructura de la ontología. La representación visual por medio de interfaces intuitivas puede ayudar a los usuarios sin conocimientos técnicos a establecer mapeos entre una fuente relacional y una ontología. Sin embargo, las herramientas existentes para la edición visual de mapeos muestran algunas limitaciones. En particular, la representación de mapeos no contempla las estructuras de la fuente relacional y de la ontología de forma conjunta. Para superar este inconveniente, hemos desarrollado Map-On, un entorno visual web para la edición manual de mapeos. AutoMap4OBDA ha demostrado que supera las prestaciones de las soluciones existentes para la generación de mapeos. Map-On se ha aplicado en proyectos de investigación para verificar su eficacia en la gestión de mapeos.Integration of data from heterogeneous formats and domains based on Semantic Web technologies enables us to solve their structural and semantic heterogeneity. Ontology-based data access (OBDA) is a comprehensive solution which relies on the use of ontologies as mediator schemas and relational-to-ontology mappings to facilitate data source querying. However, one of the greatest obstacles in the adoption of OBDA is the lack of tools to support the creation of mappings between physically stored data and ontologies. The objective of this research has been to develop new tools that allow non-ontology experts to create relational-to-ontology mappings. For this purpose, two lines of work have been carried out: the automated generation of relational-to-ontology mappings, and visual support for mapping editing. The tools currently available to automate the generation of mappings are far from providing a complete solution, since they rely on relational schemas and barely take into account the contents of the relational data source and features of the ontology. However, the data may contain hidden relationships that can help in the process of mapping generation. To overcome this limitation, we have developed AutoMap4OBDA, a system that automatically generates R2RML mappings from the analysis of the contents of the relational source and takes into account the characteristics of ontology. The system employs an ontology learning technique to infer class hierarchies, selects the string similarity metric based on the labels of ontologies, and analyses the graph structures to generate the mappings from the structure of the ontology. The visual representation through intuitive interfaces can help non-technical users to establish mappings between a relational source and an ontology. However, existing tools for visual editing of mappings show somewhat limitations. In particular, the visual representation of mapping does not embrace the structure of the relational source and the ontology at the same time. To overcome this problem, we have developed Map-On, a visual web environment for the manual editing of mappings. AutoMap4OBDA has been shown to outperform existing solutions in the generation of mappings. Map-On has been applied in research projects to verify its effectiveness in managing mappings