5,414 research outputs found

    Developing techniques for enhancing comprehensibility of controlled medical terminologies

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    A controlled medical terminology (CMT) is a collection of concepts (or terms) that are used in the medical domain. Typically, a CMT also contains attributes of those concepts and/or relationships between those concepts. Electronic CMTs are extremely useful and important for communication between and integration of independent information systems in healthcare, because data in this area is highly fragmented. A single query in this area might involve several databases, e.g., a clinical database, a pharmacy database, a radiology database, and a lab test database. Unfortunately, the extensive sizes of CMTs, often containing tens of thousands of concepts and hundreds of thousands of relationships between pairs of those concepts, impose steep learning curves for new users of such CMTs. In this dissertation, we address the problem of helping a user to orient himself in an existing large CMT. In order to help a user comprehend a large, complex CMT, we need to provide abstract views of the CMT. However, at this time, no tools exist for providing a user with such abstract views. One reason for the lack of tools is the absence of a good theory on how to partition an overwhelming CMT into manageable pieces. In this dissertation, we try to overcome the described problem by using a threepronged approach. (1) We use the power of Object-Oriented Databases to design a schema extraction process for large, complex CMTs. The schema resulting from this process provides an excellent, compact representation of the CMT. (2) We develop a theory and a methodology for partitioning a large OODI3 schema, modeled as a graph, into small meaningful units. The methodology relies on the interaction between a human and a computer, making optimal use of the human\u27s semantic knowledge and the computer\u27s speed. Furthermore, the theory and methodology developed for the scbemalevel partitioning are also adapted to the object-level of a CMT. (3) We use purely structural similarities for partitioning CMTs, eliminating the need for a human expert in the partitioning methodology mentioned above. Two large medical terminologies are used as our test beds, the Medical Entities Dictionary (MED) and the Unified Medical Language System (UMLS), which itself contains a number of terminologies

    Contextual Analysis of Large-Scale Biomedical Associations for the Elucidation and Prioritization of Genes and their Roles in Complex Disease

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    Vast amounts of biomedical associations are easily accessible in public resources, spanning gene-disease associations, tissue-specific gene expression, gene function and pathway annotations, and many other data types. Despite this mass of data, information most relevant to the study of a particular disease remains loosely coupled and difficult to incorporate into ongoing research. Current public databases are difficult to navigate and do not interoperate well due to the plethora of interfaces and varying biomedical concept identifiers used. Because no coherent display of data within a specific problem domain is available, finding the latent relationships associated with a disease of interest is impractical. This research describes a method for extracting the contextual relationships embedded within associations relevant to a disease of interest. After applying the method to a small test data set, a large-scale integrated association network is constructed for application of a network propagation technique that helps uncover more distant latent relationships. Together these methods are adept at uncovering highly relevant relationships without any a priori knowledge of the disease of interest. The combined contextual search and relevance methods power a tool which makes pertinent biomedical associations easier to find, easier to assimilate into ongoing work, and more prominent than currently available databases. Increasing the accessibility of current information is an important component to understanding high-throughput experimental results and surviving the data deluge

    CREATING A BIOMEDICAL ONTOLOGY INDEXED SEARCH ENGINE TO IMPROVE THE SEMANTIC RELEVANCE OF RETREIVED MEDICAL TEXT

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    Medical Subject Headings (MeSH) is a controlled vocabulary used by the National Library of Medicine to index medical articles, abstracts, and journals contained within the MEDLINE database. Although MeSH imposes uniformity and consistency in the indexing process, it has been proven that using MeSH indices only result in a small increase in precision over free-text indexing. Moreover, studies have shown that the use of controlled vocabularies in the indexing process is not an effective method to increase semantic relevance in information retrieval. To address the need for semantic relevance, we present an ontology-based information retrieval system for the MEDLINE collection that result in a 37.5% increase in precision when compared to free-text indexing systems. The presented system focuses on the ontology to: provide an alternative to text-representation for medical articles, finding relationships among co-occurring terms in abstracts, and to index terms that appear in text as well as discovered relationships. The presented system is then compared to existing MeSH and Free-Text information retrieval systems. This dissertation provides a proof-of-concept for an online retrieval system capable of providing increased semantic relevance when searching through medical abstracts in MEDLINE

    Incorporating Ontological Information in Biomedical Entity Linking of Phrases in Clinical Text

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    Biomedical Entity Linking (BEL) is the task of mapping spans of text within biomedical documents to normalized, unique identifiers within an ontology. Translational application of BEL on clinical notes has enormous potential for augmenting discretely captured data in electronic health records, but the existing paradigm for evaluating BEL systems developed in academia is not well aligned with real-world use cases. In this work, we demonstrate a proof of concept for incorporating ontological similarity into the training and evaluation of BEL systems to begin to rectify this misalignment. This thesis has two primary components: 1) a comprehensive literature review and 2) a methodology section to propose novel BEL techniques to contribute to scientific progress in the field. In the literature review component, I survey the progression of BEL from its inception in the late 80s to present day state of the art systems, provide a comprehensive list of datasets available for training BEL systems, reference shared tasks focused on BEL, and outline the technical components that vii comprise BEL systems. In the methodology component, I describe my experiments incorporating ontological information into training a BERT encoder for entity linking

    Identification of disease-causing genes using microarray data mining and gene ontology

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    Background: One of the best and most accurate methods for identifying disease-causing genes is monitoring gene expression values in different samples using microarray technology. One of the shortcomings of microarray data is that they provide a small quantity of samples with respect to the number of genes. This problem reduces the classification accuracy of the methods, so gene selection is essential to improve the predictive accuracy and to identify potential marker genes for a disease. Among numerous existing methods for gene selection, support vector machine-based recursive feature elimination (SVMRFE) has become one of the leading methods, but its performance can be reduced because of the small sample size, noisy data and the fact that the method does not remove redundant genes. Methods: We propose a novel framework for gene selection which uses the advantageous features of conventional methods and addresses their weaknesses. In fact, we have combined the Fisher method and SVMRFE to utilize the advantages of a filtering method as well as an embedded method. Furthermore, we have added a redundancy reduction stage to address the weakness of the Fisher method and SVMRFE. In addition to gene expression values, the proposed method uses Gene Ontology which is a reliable source of information on genes. The use of Gene Ontology can compensate, in part, for the limitations of microarrays, such as having a small number of samples and erroneous measurement results. Results: The proposed method has been applied to colon, Diffuse Large B-Cell Lymphoma (DLBCL) and prostate cancer datasets. The empirical results show that our method has improved classification performance in terms of accuracy, sensitivity and specificity. In addition, the study of the molecular function of selected genes strengthened the hypothesis that these genes are involved in the process of cancer growth. Conclusions: The proposed method addresses the weakness of conventional methods by adding a redundancy reduction stage and utilizing Gene Ontology information. It predicts marker genes for colon, DLBCL and prostate cancer with a high accuracy. The predictions made in this study can serve as a list of candidates for subsequent wet-lab verification and might help in the search for a cure for cancers
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