1,516 research outputs found

    Towards an Ontology-Based Phenotypic Query Model

    Get PDF
    Clinical research based on data from patient or study data management systems plays an important role in transferring basic findings into the daily practices of physicians. To support study recruitment, diagnostic processes, and risk factor evaluation, search queries for such management systems can be used. Typically, the query syntax as well as the underlying data structure vary greatly between different data management systems. This makes it difficult for domain experts (e.g., clinicians) to build and execute search queries. In this work, the Core Ontology of Phenotypes is used as a general model for phenotypic knowledge. This knowledge is required to create search queries that determine and classify individuals (e.g., patients or study participants) whose morphology, function, behaviour, or biochemical and physiological properties meet specific phenotype classes. A specific model describing a set of particular phenotype classes is called a Phenotype Specification Ontology. Such an ontology can be automatically converted to search queries on data management systems. The methods described have already been used successfully in several projects. Using ontologies to model phenotypic knowledge on patient or study data management systems is a viable approach. It allows clinicians to model from a domain perspective without knowing the actual data structure or query language

    Clinical Bioinformatics: challenges and opportunities

    Get PDF
    Background: Network Tools and Applications in Biology (NETTAB) Workshops are a series of meetings focused on the most promising and innovative ICT tools and to their usefulness in Bioinformatics. The NETTAB 2011 workshop, held in Pavia, Italy, in October 2011 was aimed at presenting some of the most relevant methods, tools and infrastructures that are nowadays available for Clinical Bioinformatics (CBI), the research field that deals with clinical applications of bioinformatics. Methods: In this editorial, the viewpoints and opinions of three world CBI leaders, who have been invited to participate in a panel discussion of the NETTAB workshop on the next challenges and future opportunities of this field, are reported. These include the development of data warehouses and ICT infrastructures for data sharing, the definition of standards for sharing phenotypic data and the implementation of novel tools to implement efficient search computing solutions. Results: Some of the most important design features of a CBI-ICT infrastructure are presented, including data warehousing, modularity and flexibility, open-source development, semantic interoperability, integrated search and retrieval of –omics information. Conclusions: Clinical Bioinformatics goals are ambitious. Many factors, including the availability of high-throughput “-omics” technologies and equipment, the widespread availability of clinical data warehouses and the noteworthy increase in data storage and computational power of the most recent ICT systems, justify research and efforts in this domain, which promises to be a crucial leveraging factor for biomedical research

    A Systematic Review of Natural Language Processing for Knowledge Management in Healthcare

    Get PDF
    Driven by the visions of Data Science, recent years have seen a paradigm shift in Natural Language Processing (NLP). NLP has set the milestone in text processing and proved to be the preferred choice for researchers in the healthcare domain. The objective of this paper is to identify the potential of NLP, especially, how NLP is used to support the knowledge management process in the healthcare domain, making data a critical and trusted component in improving health outcomes. This paper provides a comprehensive survey of the state-of-the-art NLP research with a particular focus on how knowledge is created, captured, shared, and applied in the healthcare domain. Our findings suggest, first, the techniques of NLP those supporting knowledge management extraction and knowledge capture processes in healthcare. Second, we propose a conceptual model for the knowledge extraction process through NLP. Finally, we discuss a set of issues, challenges, and proposed future research areas

    A Systematic Review of Natural Language Processing for Knowledge Management in Healthcare

    Full text link
    Driven by the visions of Data Science, recent years have seen a paradigm shift in Natural Language Processing (NLP). NLP has set the milestone in text processing and proved to be the preferred choice for researchers in the healthcare domain. The objective of this paper is to identify the potential of NLP, especially, how NLP is used to support the knowledge management process in the healthcare domain, making data a critical and trusted component in improving the health outcomes. This paper provides a comprehensive survey of the state-of-the-art NLP research with a particular focus on how knowledge is created, captured, shared, and applied in the healthcare domain. Our findings suggest, first, the techniques of NLP those supporting knowledge management extraction and knowledge capture processes in healthcare. Second, we propose a conceptual model for the knowledge extraction process through NLP. Finally, we discuss a set of issues, challenges, and proposed future research areas

    Mining clinical relationships from patient narratives

    Get PDF
    Background The Clinical E-Science Framework (CLEF) project has built a system to extract clinically significant information from the textual component of medical records in order to support clinical research, evidence-based healthcare and genotype-meets-phenotype informatics. One part of this system is the identification of relationships between clinically important entities in the text. Typical approaches to relationship extraction in this domain have used full parses, domain-specific grammars, and large knowledge bases encoding domain knowledge. In other areas of biomedical NLP, statistical machine learning (ML) approaches are now routinely applied to relationship extraction. We report on the novel application of these statistical techniques to the extraction of clinical relationships. Results We have designed and implemented an ML-based system for relation extraction, using support vector machines, and trained and tested it on a corpus of oncology narratives hand-annotated with clinically important relationships. Over a class of seven relation types, the system achieves an average F1 score of 72%, only slightly behind an indicative measure of human inter annotator agreement on the same task. We investigate the effectiveness of different features for this task, how extraction performance varies between inter- and intra-sentential relationships, and examine the amount of training data needed to learn various relationships. Conclusion We have shown that it is possible to extract important clinical relationships from text, using supervised statistical ML techniques, at levels of accuracy approaching those of human annotators. Given the importance of relation extraction as an enabling technology for text mining and given also the ready adaptability of systems based on our supervised learning approach to other clinical relationship extraction tasks, this result has significance for clinical text mining more generally, though further work to confirm our encouraging results should be carried out on a larger sample of narratives and relationship types

    Information management applied to bioinformatics

    Get PDF
    Bioinformatics, the discipline concerned with biological information management is essential in the post-genome era, where the complexity of data processing allows for contemporaneous multi level research including that at the genome level, transcriptome level, proteome level, the metabolome level, and the integration of these -omic studies towards gaining an understanding of biology at the systems level. This research is also having a major impact on disease research and drug discovery, particularly through pharmacogenomics studies. In this study innovative resources have been generated via the use of two case studies. One was of the Research & Development Genetics (RDG) department at AstraZeneca, Alderley Park and the other was of the Pharmacogenomics Group at the Sanger Institute in Cambridge UK. In the AstraZeneca case study senior scientists were interviewed using semi-structured interviews to determine information behaviour through the study scientific workflows. Document analysis was used to generate an understanding of the underpinning concepts and fonned one of the sources of context-dependent information on which the interview questions were based. The objectives of the Sanger Institute case study were slightly different as interviews were carried out with eight scientists together with the use of participation observation, to collect data to develop a database standard for one process of their Pharmacogenomics workflow. The results indicated that AstraZeneca would benefit through upgrading their data management solutions in the laboratory and by development of resources for the storage of data from larger scale projects such as whole genome scans. These studies will also generate very large amounts of data and the analysis of these will require more sophisticated statistical methods. At the Sanger Institute a minimum information standard was reported for the manual design of primers and included in a decision making tree developed for Polymerase Chain Reactions (PCRs). This tree also illustrates problems that can be encountered when designing primers along with procedures that can be taken to address such issues.EThOS - Electronic Theses Online ServiceGBUnited Kingdo
    • …
    corecore