METADATA MANAGEMENT FOR CLINICAL DATA INTEGRATION

Clinical data have been continuously collected and growing with the wide adoption of electronic health records (EHR). Clinical data have provided the foundation to facilitate state-of-art researches such as artificial intelligence in medicine. At the same time, it has become a challenge to integrate, access, and explore study-level patient data from large volumes of data from heterogeneous databases. Effective, fine-grained, cross-cohort data exploration, and semantically enabled approaches and systems are needed. To build semantically enabled systems, we need to leverage existing terminology systems and ontologies. Numerous ontologies have been developed recently and they play an important role in semantically enabled applications. Because they contain valuable codified knowledge, the management of these ontologies, as metadata, also requires systematic approaches. Moreover, in most clinical settings, patient data are collected with the help of a data dictionary. Knowledge of the relationships between an ontology and a related data dictionary is important for semantic interoperability. Such relationships are represented and maintained by mappings. Mappings store how data source elements and domain ontology concepts are linked, as well as how domain ontology concepts are linked between different ontologies. While mappings are crucial to the maintenance of relationships between an ontology and a related data dictionary, they are commonly captured by CSV files with limits capabilities for sharing, tracking, and visualization. The management of mappings requires an innovative, interactive, and collaborative approach. Metadata management servers to organize data that describes other data. In computer science and information science, ontology is the metadata consisting of the representation, naming, and definition of the hierarchies, properties, and relations between concepts. A structural, scalable, and computer understandable way for metadata management is critical to developing systems with the fine-grained data exploration capabilities. This dissertation presents a systematic approach called MetaSphere using metadata and ontologies to support the management and integration of clinical research data through our ontology-based metadata management system for multiple domains. MetaSphere is a general framework that aims to manage specific domain metadata, provide fine-grained data exploration interface, and store patient data in data warehouses. Moreover, MetaSphere provides a dedicated mapping interface called Interactive Mapping Interface (IMI) to map the data dictionary to well-recognized and standardized ontologies. MetaSphere has been applied to three domains successfully, sleep domain (X-search), pressure ulcer injuries and deep tissue pressure (SCIPUDSphere), and cancer. Specifically, MetaSphere stores domain ontology structurally in databases. Patient data in the corresponding domains are also stored in databases as data warehouses. MetaSphere provides a powerful query interface to enable interaction between human and actual patient data. Query interface is a mechanism allowing researchers to compose complex queries to pinpoint specific cohort over a large amount of patient data. The MetaSphere framework has been instantiated into three domains successfully and the detailed results are as below. X-search is publicly available at https://www.x-search.net with nine sleep domain datasets consisting of over 26,000 unique subjects. The canonical data dictionary contains over 900 common data elements across the datasets. X-search has received over 1800 cross-cohort queries by users from 16 countries. SCIPUDSphere has integrated a total number of 268,562 records containing 282 ICD9 codes related to pressure ulcer injuries among 36,626 individuals with spinal cord injuries. IMI is publicly available at http://epi-tome.com/. Using IMI, we have successfully mapped the North American Association of Central Cancer Registries (NAACCR) data dictionary to the National Cancer Institute Thesaurus (NCIt) concepts

Infectious Disease Ontology

Technological developments have resulted in tremendous increases in the volume and diversity of the data and information that must be processed in the course of biomedical and clinical research and practice. Researchers are at the same time under ever greater pressure to share data and to take steps to ensure that data resources are interoperable. The use of ontologies to annotate data has proven successful in supporting these goals and in providing new possibilities for the automated processing of data and information. In this chapter, we describe different types of vocabulary resources and emphasize those features of formal ontologies that make them most useful for computational applications. We describe current uses of ontologies and discuss future goals for ontology-based computing, focusing on its use in the field of infectious diseases. We review the largest and most widely used vocabulary resources relevant to the study of infectious diseases and conclude with a description of the Infectious Disease Ontology (IDO) suite of interoperable ontology modules that together cover the entire infectious disease domain

Design considerations for a hierarchical semantic compositional framework for medical natural language understanding

Medical natural language processing (NLP) systems are a key enabling technology for transforming Big Data from clinical report repositories to information used to support disease models and validate intervention methods. However, current medical NLP systems fall considerably short when faced with the task of logically interpreting clinical text. In this paper, we describe a framework inspired by mechanisms of human cognition in an attempt to jump the NLP performance curve. The design centers about a hierarchical semantic compositional model (HSCM) which provides an internal substrate for guiding the interpretation process. The paper describes insights from four key cognitive aspects including semantic memory, semantic composition, semantic activation, and hierarchical predictive coding. We discuss the design of a generative semantic model and an associated semantic parser used to transform a free-text sentence into a logical representation of its meaning. The paper discusses supportive and antagonistic arguments for the key features of the architecture as a long-term foundational framework

FunMap: Efficient Execution of Functional Mappings for Knowledge Graph Creation

Data has exponentially grown in the last years, and knowledge graphs constitute powerful formalisms to integrate a myriad of existing data sources. Transformation functions -- specified with function-based mapping languages like FunUL and RML+FnO -- can be applied to overcome interoperability issues across heterogeneous data sources. However, the absence of engines to efficiently execute these mapping languages hinders their global adoption. We propose FunMap, an interpreter of function-based mapping languages; it relies on a set of lossless rewriting rules to push down and materialize the execution of functions in initial steps of knowledge graph creation. Although applicable to any function-based mapping language that supports joins between mapping rules, FunMap feasibility is shown on RML+FnO. FunMap reduces data redundancy, e.g., duplicates and unused attributes, and converts RML+FnO mappings into a set of equivalent rules executable on RML-compliant engines. We evaluate FunMap performance over real-world testbeds from the biomedical domain. The results indicate that FunMap reduces the execution time of RML-compliant engines by up to a factor of 18, furnishing, thus, a scalable solution for knowledge graph creation

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

Grand Challenges of Traceability: The Next Ten Years

In 2007, the software and systems traceability community met at the first Natural Bridge symposium on the Grand Challenges of Traceability to establish and address research goals for achieving effective, trustworthy, and ubiquitous traceability. Ten years later, in 2017, the community came together to evaluate a decade of progress towards achieving these goals. These proceedings document some of that progress. They include a series of short position papers, representing current work in the community organized across four process axes of traceability practice. The sessions covered topics from Trace Strategizing, Trace Link Creation and Evolution, Trace Link Usage, real-world applications of Traceability, and Traceability Datasets and benchmarks. Two breakout groups focused on the importance of creating and sharing traceability datasets within the research community, and discussed challenges related to the adoption of tracing techniques in industrial practice. Members of the research community are engaged in many active, ongoing, and impactful research projects. Our hope is that ten years from now we will be able to look back at a productive decade of research and claim that we have achieved the overarching Grand Challenge of Traceability, which seeks for traceability to be always present, built into the engineering process, and for it to have "effectively disappeared without a trace". We hope that others will see the potential that traceability has for empowering software and systems engineers to develop higher-quality products at increasing levels of complexity and scale, and that they will join the active community of Software and Systems traceability researchers as we move forward into the next decade of research

Grand Challenges of Traceability: The Next Ten Years

In 2007, the software and systems traceability community met at the first Natural Bridge symposium on the Grand Challenges of Traceability to establish and address research goals for achieving effective, trustworthy, and ubiquitous traceability. Ten years later, in 2017, the community came together to evaluate a decade of progress towards achieving these goals. These proceedings document some of that progress. They include a series of short position papers, representing current work in the community organized across four process axes of traceability practice. The sessions covered topics from Trace Strategizing, Trace Link Creation and Evolution, Trace Link Usage, real-world applications of Traceability, and Traceability Datasets and benchmarks. Two breakout groups focused on the importance of creating and sharing traceability datasets within the research community, and discussed challenges related to the adoption of tracing techniques in industrial practice. Members of the research community are engaged in many active, ongoing, and impactful research projects. Our hope is that ten years from now we will be able to look back at a productive decade of research and claim that we have achieved the overarching Grand Challenge of Traceability, which seeks for traceability to be always present, built into the engineering process, and for it to have "effectively disappeared without a trace". We hope that others will see the potential that traceability has for empowering software and systems engineers to develop higher-quality products at increasing levels of complexity and scale, and that they will join the active community of Software and Systems traceability researchers as we move forward into the next decade of research

FunMap: Efficient Execution of Functional Mappings for Knowledge Graph Creation

Data has exponentially grown in the last years, and knowledge graphs constitute powerful formalisms to integrate a myriad of existing data sources. Transformation functions – specified with function-based mapping languages like FunUL and RML+FnO – can be applied to overcome interoperability issues across heterogeneous data sources. However, the absence of engines to efficiently execute these mapping languages hinders their global adoption. We propose FunMap, an interpreter of function-based mapping languages; it relies on a set of lossless rewriting rules to push down and materialize the execution of functions in initial steps of knowledge graph creation. Although applicable to any function-based mapping language that supports joins between mapping rules, FunMap feasibility is shown on RML+FnO. FunMap reduces data redundancy, e.g., duplicates and unused attributes, and converts RML+FnO mappings into a set of equivalent rules executable on RML-compliant engines. We evaluate FunMap performance over real-world testbeds from the biomedical domain. The results indicate that FunMap reduces the execution time of RML-compliant engines by up to a factor of 18, furnishing, thus, a scalable solution for knowledge graph creation

Building high-quality merged ontologies from multiple sources with requirements customization

Ontologies are the prime way of organizing data in the Semantic Web. Often, it is necessary to combine several, independently developed ontologies to obtain a knowledge graph fully representing a domain of interest. Existing approaches scale rather poorly to the merging of multiple ontologies due to using a binary merge strategy. Thus, we aim to investigate the extent to which the n-ary strategy can solve the scalability problem. This thesis contributes to the following important aspects: 1. Our n-ary merge strategy takes as input a set of source ontologies and their mappings and generates a merged ontology. For efficient processing, rather than successively merging complete ontologies pairwise, we group related concepts across ontologies into partitions and merge first within and then across those partitions. 2. We take a step towards parameterizable merge methods. We have identified a set of Generic Merge Requirements (GMRs) that merged ontologies might be expected to meet. We have investigated and developed compatibilities of the GMRs by a graph-based method. 3. When multiple ontologies are merged, inconsistencies can occur due to different world views encoded in the source ontologies To this end, we propose a novel Subjective Logic-based method to handling the inconsistency occurring while merging ontologies. We apply this logic to rank and estimate the trustworthiness of conflicting axioms that cause inconsistencies within a merged ontology. 4. To assess the quality of the merged ontologies systematically, we provide a comprehensive set of criteria in an evaluation framework. The proposed criteria cover a variety of characteristics of each individual aspect of the merged ontology in structural, functional, and usability dimensions. 5. The final contribution of this research is the development of the CoMerger tool that implements all aforementioned aspects accessible via a unified interface