Cohort Identification Using Semantic Web Technologies: Ontologies and Triplestores as Engines for Complex Computable Phenotyping

Electronic health record (EHR)-based computable phenotypes are algorithms used to identify individuals or populations with clinical conditions or events of interest within a clinical data repository. Due to a lack of EHR data standardization, computable phenotypes can be semantically ambiguous and difficult to share across institutions. In this research, I propose a new computable phenotyping methodological framework based on semantic web technologies, specifically ontologies, the Resource Description Framework (RDF) data format, triplestores, and Web Ontology Language (OWL) reasoning. My hypothesis is that storing and analyzing clinical data using these technologies can begin to address the critical issues of semantic ambiguity and lack of interoperability in the context of computable phenotyping. To test this hypothesis, I compared the performance of two variants of two computable phenotypes (for depression and rheumatoid arthritis, respectively). The first variant of each phenotype used a list of ICD-10-CM codes to define the condition; the second variant used ontology concepts from SNOMED and the Human Phenotype Ontology (HPO). After executing each variant of each phenotype against a clinical data repository, I compared the patients matched in each case to see where the different variants overlapped and diverged. Both the ontologies and the clinical data were stored in an RDF triplestore to allow me to assess the interoperability advantages of the RDF format for clinical data. All tested methods successfully identified cohorts in the data store, with differing rates of overlap and divergence between variants. Depending on the phenotyping use case, SNOMED and HPO’s ability to more broadly define many conditions due to complex relationships between their concepts may be seen as an advantage or a disadvantage. I also found that RDF triplestores do indeed provide interoperability advantages, despite being far less commonly used in clinical data applications than relational databases. Despite the fact that these methods and technologies are not “one-size-fits-all,” the experimental results are encouraging enough for them to (1) be put into practice in combination with existing phenotyping methods or (2) be used on their own for particularly well-suited use cases.Doctor of Philosoph

Point of Care Healthcare Quality Control for Patients Using Mobile Devices

The advances made in the domain of mobile telecommunications over the last decade offer great potential for developments in many areas. One such area that can benefit from mobile communications is telemedicine, which is the provision of medical assistance, in one form or another, to patients who are geographically separated from the healthcare provider. When a person is ill, individual attention from medical professionals is of the utmost importance until they have returned to full health. However, people who suffer with long term and chronic illnesses may need life long care and often must manage their condition at home. Many chronically ill patients manage their condition themselves and perform ‘self-testing’ with Point of Care Test (POCT) equipment as part of this condition management. When a specimen sample is analysed at home with a POCT device, a result is available to the patient almost immediately, but the result cannot be proven to be plausible for the patient unless it is validated by the hospital systems. In addition to this the hospital is unaware of the patients condition and progress between hospital visits. This research addresses some of the issues and problems that fact patients who use POCT equipment to ‘self-manage’ their condition at home. Using mobile phone technologies and the Java platform, three alternative methods for providing patients with a service of POCT result validation and storage was designed. The implementation and test of these systems, proves that a mobile phone solution to the issues associated with patient self-testing is possible and can greatly contribute to the quality of patient care

Hybrid semantic-document models

This thesis presents the concept of hybrid semantic-document models to aid information management when using standards for complex technical domains such as military data communication. These standards are traditionally text based documents for human interpretation, but prose sections can often be ambiguous and can lead to discrepancies and subsequent implementation problems. Many organisations produce semantic representations of the material to ensure common understanding and to exploit computer aided development. In developing these semantic representations, no relationship is maintained to the original prose. Maintaining relationships between the original prose and the semantic model has key benefits, including assessing conformance at a semantic level, and enabling original content authors to explicitly define their intentions, thus reducing ambiguity and facilitating computer aided functionality. Through the use of a case study method based on the military standard MIL-STD-6016C, a framework of relationships is proposed. These relationships can integrate with common document modelling techniques and provide the necessary functionality to allow semantic content to be mapped into document views. These relationships are then generalised for applicability to a wider context. Additionally, this framework is coupled with a templating approach which, for repeating sections, can improve consistency and further enhance quality. A reflective approach to model driven web rendering is presented and evaluated. This reflective approach uses self-inspection at runtime to read directly from the model, thus eliminating the need for any generative processes which result in data duplication across source used for different purpose

Doctor of Philosophy

dissertationBiomedical data are a rich source of information and knowledge. Not only are they useful for direct patient care, but they may also offer answers to important population-based questions. Creating an environment where advanced analytics can be performed against biomedical data is nontrivial, however. Biomedical data are currently scattered across multiple systems with heterogeneous data, and integrating these data is a bigger task than humans can realistically do by hand; therefore, automatic biomedical data integration is highly desirable but has never been fully achieved. This dissertation introduces new algorithms that were devised to support automatic and semiautomatic integration of heterogeneous biomedical data. The new algorithms incorporate both data mining and biomedical informatics techniques to create "concept bags" that are used to compute similarity between data elements in the same way that "word bags" are compared in data mining. Concept bags are composed of controlled medical vocabulary concept codes that are extracted from text using named-entity recognition software. To test the new algorithm, three biomedical text similarity use cases were examined: automatically aligning data elements between heterogeneous data sets, determining degrees of similarity between medical terms using a published benchmark, and determining similarity between ICU discharge summaries. The method is highly configurable and 5 different versions were tested. The concept bag method performed particularly well aligning data elements and outperformed the compared algorithms by iv more than 5%. Another configuration that included hierarchical semantics performed particularly well at matching medical terms, meeting or exceeding 30 of 31 other published results using the same benchmark. Results for the third scenario of computing ICU discharge summary similarity were less successful. Correlations between multiple methods were low, including between terminologists. The concept bag algorithms performed consistently and comparatively well and appear to be viable options for multiple scenarios. New applications of the method and ideas for improving the algorithm are being discussed for future work, including several performance enhancements, configuration-based enhancements, and concept vector weighting using the TF-IDF formulas

Orta Doğu Teknik Üniversitesi- Bilgi Toplumu Teknolojileri- Mükemmeliyet merkez projesi

TÜBİTAK EEEAG Proje01.02.200

A modular, open-source information extraction framework for identifying clinical concepts and processes of care in clinical narratives

In this thesis, a synthesis is presented of the knowledge models required by clinical informa- tion systems that provide decision support for longitudinal processes of care. Qualitative research techniques and thematic analysis are novelly applied to a systematic review of the literature on the challenges in implementing such systems, leading to the development of an original conceptual framework. The thesis demonstrates how these process-oriented systems make use of a knowledge base derived from workflow models and clinical guidelines, and argues that one of the major barriers to implementation is the need to extract explicit and implicit information from diverse resources in order to construct the knowledge base. Moreover, concepts in both the knowledge base and in the electronic health record (EHR) must be mapped to a common ontological model. However, the majority of clinical guideline information remains in text form, and much of the useful clinical information residing in the EHR resides in the free text fields of progress notes and laboratory reports. In this thesis, it is shown how natural language processing and information extraction techniques provide a means to identify and formalise the knowledge components required by the knowledge base. Original contributions are made in the development of lexico-syntactic patterns and the use of external domain knowledge resources to tackle a variety of information extraction tasks in the clinical domain, such as recognition of clinical concepts, events, temporal relations, term disambiguation and abbreviation expansion. Methods are developed for adapting existing tools and resources in the biomedical domain to the processing of clinical texts, and approaches to improving the scalability of these tools are proposed and evalu- ated. These tools and techniques are then combined in the creation of a novel approach to identifying processes of care in the clinical narrative. It is demonstrated that resolution of coreferential and anaphoric relations as narratively and temporally ordered chains provides a means to extract linked narrative events and processes of care from clinical notes. Coreference performance in discharge summaries and progress notes is largely dependent on correct identification of protagonist chains (patient, clinician, family relation), pronominal resolution, and string matching that takes account of experiencer, temporal, spatial, and anatomical context; whereas for laboratory reports additional, external domain knowledge is required. The types of external knowledge and their effects on system performance are identified and evaluated. Results are compared against existing systems for solving these tasks and are found to improve on them, or to approach the performance of recently reported, state-of-the- art systems. Software artefacts developed in this research have been made available as open-source components within the General Architecture for Text Engineering framework

Internet of Things Strategic Research Roadmap

Internet of Things (IoT) is an integrated part of Future Internet including existing and evolving Internet and network developments and could be conceptually defined as a dynamic global network infrastructure with self configuring capabilities based on standard and interoperable communication protocols where physical and virtual “things” have identities, physical attributes, and virtual personalities, use intelligent interfaces, and are seamlessly integrated into the information network

Grid-based semantic integration of heterogeneous data resources: Implementation on a HealthGrid

This thesis was submitted for the degree of Doctor of Philosophy and was awarded by Brunel University.The semantic integration of geographically distributed and heterogeneous data resources still remains a key challenge in Grid infrastructures. Today's mainstream Grid technologies hold the promise to meet this challenge in a systematic manner, making data applications more scalable and manageable. The thesis conducts a thorough investigation of the problem, the state of the art, and the related technologies, and proposes an Architecture for Semantic Integration of Data Sources (ASIDS) addressing the semantic heterogeneity issue. It defines a simple mechanism for the interoperability of heterogeneous data sources in order to extract or discover information regardless of their different semantics. The constituent technologies of this architecture include Globus Toolkit (GT4) and OGSA-DAI (Open Grid Service Architecture Data Integration and Access) alongside other web services technologies such as XML (Extensive Markup Language). To show this, the ASIDS architecture was implemented and tested in a realistic setting by building an exemplar application prototype on a HealthGrid (pilot implementation). The study followed an empirical research methodology and was informed by extensive literature surveys and a critical analysis of the relevant technologies and their synergies. The two literature reviews, together with the analysis of the technology background, have provided a good overview of the current Grid and HealthGrid landscape, produced some valuable taxonomies, explored new paths by integrating technologies, and more importantly illuminated the problem and guided the research process towards a promising solution. Yet the primary contribution of this research is an approach that uses contemporary Grid technologies for integrating heterogeneous data resources that have semantically different. data fields (attributes). It has been practically demonstrated (using a prototype HealthGrid) that discovery in semantically integrated distributed data sources can be feasible by using mainstream Grid technologies, which have been shown to have some Significant advantages over non-Grid based approaches

The evaluation and harmonisation of disparate information metamodels in support of epidemiological and public health research

BACKGROUND: Descriptions of data, metadata, provide researchers with the contextual information they need to achieve research goals. Metadata enable data discovery, sharing and reuse, and are fundamental to managing data across the research data lifecycle. However, challenges associated with data discoverability negatively impact on the extent to which these data are known by the wider research community. This, when combined with a lack of quality assessment frameworks and limited awareness of the implications associated with poor quality metadata, are hampering the way in which epidemiological and public health research data are documented and repurposed. Furthermore, the absence of enduring metadata management models to capture consent for record linkage metadata in longitudinal studies can hinder researchers from establishing standardised descriptions of consent. AIM: To examine how metadata management models can be applied to ameliorate the use of research data within the context of epidemiological and public health research. METHODS: A combination of systematic literature reviews, online surveys and qualitative data analyses were used to investigate the current state of the art, identify current perceived challenges and inform creation and evaluation of the models. RESULTS: There are three components to this thesis: a) enhancing data discoverability; b) improving metadata quality assessment; and c) improving the capture of consent for record linkage metadata. First, three models were examined to enhance research data discoverability: data publications, linked data on the World Wide Web and development of an online public health portal. Second, a novel framework to assess epidemiological and public health metadata quality framework was created and evaluated. Third, a novel metadata management model to improve capture of consent for record linkage metadata was created and evaluated. CONCLUSIONS: Findings from these studies have contributed to a set of recommendations for change in research data management policy and practice to enhance stakeholders’ research environment