657 research outputs found

    Three Essays on Enhancing Clinical Trial Subject Recruitment Using Natural Language Processing and Text Mining

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    Patient recruitment and enrollment are critical factors for a successful clinical trial; however, recruitment tends to be the most common problem in most clinical trials. The success of a clinical trial depends on efficiently recruiting suitable patients to conduct the trial. Every clinical trial research has a protocol, which describes what will be done in the study and how it will be conducted. Also, the protocol ensures the safety of the trial subjects and the integrity of the data collected. The eligibility criteria section of clinical trial protocols is important because it specifies the necessary conditions that participants have to satisfy. Since clinical trial eligibility criteria are usually written in free text form, they are not computer interpretable. To automate the analysis of the eligibility criteria, it is therefore necessary to transform those criteria into a computer-interpretable format. Unstructured format of eligibility criteria additionally create search efficiency issues. Thus, searching and selecting appropriate clinical trials for a patient from relatively large number of available trials is a complex task. A few attempts have been made to automate the matching process between patients and clinical trials. However, those attempts have not fully integrated the entire matching process and have not exploited the state-of-the-art Natural Language Processing (NLP) techniques that may improve the matching performance. Given the importance of patient recruitment in clinical trial research, the objective of this research is to automate the matching process using NLP and text mining techniques and, thereby, improve the efficiency and effectiveness of the recruitment process. This dissertation research, which comprises three essays, investigates the issues of clinical trial subject recruitment using state-of-the-art NLP and text mining techniques. Essay 1: Building a Domain-Specific Lexicon for Clinical Trial Subject Eligibility Analysis Essay 2: Clustering Clinical Trials Using Semantic-Based Feature Expansion Essay 3: An Automatic Matching Process of Clinical Trial Subject Recruitment In essay1, I develop a domain-specific lexicon for n-gram Named Entity Recognition (NER) in the breast cancer domain. The domain-specific dictionary is used for selection and reduction of n-gram features in clustering in eassy2. The domain-specific dictionary was evaluated by comparing it with Systematized Nomenclature of Medicine--Clinical Terms (SNOMED CT). The results showed that it add significant number of new terms which is very useful in effective natural language processing In essay 2, I explore the clustering of similar clinical trials using the domain-specific lexicon and term expansion using synonym from the Unified Medical Language System (UMLS). I generate word n-gram features and modify the features with the domain-specific dictionary matching process. In order to resolve semantic ambiguity, a semantic-based feature expansion technique using UMLS is applied. A hierarchical agglomerative clustering algorithm is used to generate clinical trial clusters. The focus is on summarization of clinical trial information in order to enhance trial search efficiency. Finally, in essay 3, I investigate an automatic matching process of clinical trial clusters and patient medical records. The patient records collected from a prior study were used to test our approach. The patient records were pre-processed by tokenization and lemmatization. The pre-processed patient information were then further enhanced by matching with breast cancer custom dictionary described in essay 1 and semantic feature expansion using UMLS Metathesaurus. Finally, I matched the patient record with clinical trial clusters to select the best matched cluster(s) and then with trials within the clusters. The matching results were evaluated by internal expert as well as external medical expert

    MOLIERE: Automatic Biomedical Hypothesis Generation System

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    Hypothesis generation is becoming a crucial time-saving technique which allows biomedical researchers to quickly discover implicit connections between important concepts. Typically, these systems operate on domain-specific fractions of public medical data. MOLIERE, in contrast, utilizes information from over 24.5 million documents. At the heart of our approach lies a multi-modal and multi-relational network of biomedical objects extracted from several heterogeneous datasets from the National Center for Biotechnology Information (NCBI). These objects include but are not limited to scientific papers, keywords, genes, proteins, diseases, and diagnoses. We model hypotheses using Latent Dirichlet Allocation applied on abstracts found near shortest paths discovered within this network, and demonstrate the effectiveness of MOLIERE by performing hypothesis generation on historical data. Our network, implementation, and resulting data are all publicly available for the broad scientific community

    MOLIERE: Automatic Biomedical Hypothesis Generation System

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    Hypothesis generation is becoming a crucial time-saving technique which allows biomedical researchers to quickly discover implicit connections between important concepts. Typically, these systems operate on domain-specific fractions of public medical data. MOLIERE, in contrast, utilizes information from over 24.5 million documents. At the heart of our approach lies a multi-modal and multi-relational network of biomedical objects extracted from several heterogeneous datasets from the National Center for Biotechnology Information (NCBI). These objects include but are not limited to scientific papers, keywords, genes, proteins, diseases, and diagnoses. We model hypotheses using Latent Dirichlet Allocation applied on abstracts found near shortest paths discovered within this network, and demonstrate the effectiveness of MOLIERE by performing hypothesis generation on historical data. Our network, implementation, and resulting data are all publicly available for the broad scientific community

    Medical Informatics

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    Information technology has been revolutionizing the everyday life of the common man, while medical science has been making rapid strides in understanding disease mechanisms, developing diagnostic techniques and effecting successful treatment regimen, even for those cases which would have been classified as a poor prognosis a decade earlier. The confluence of information technology and biomedicine has brought into its ambit additional dimensions of computerized databases for patient conditions, revolutionizing the way health care and patient information is recorded, processed, interpreted and utilized for improving the quality of life. This book consists of seven chapters dealing with the three primary issues of medical information acquisition from a patient's and health care professional's perspective, translational approaches from a researcher's point of view, and finally the application potential as required by the clinicians/physician. The book covers modern issues in Information Technology, Bioinformatics Methods and Clinical Applications. The chapters describe the basic process of acquisition of information in a health system, recent technological developments in biomedicine and the realistic evaluation of medical informatics

    Abstraction, extension and structural auditing with the UMLS semantic network

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    The Unified Medical Language System (UMLS) is a two-level biomedical terminological knowledge base, consisting of the Metathesaurus (META) and the Semantic Network (SN), which is an upper-level ontology of broad categories called semantic types (STs). The two levels are related via assignments of one or more STs to each concept of the META. Although the SN provides a high-level abstraction for the META, it is not compact enough. Various metaschemas, which are compact higher-level abstraction networks of the SN, have been derived. A methodology is presented to evaluate and compare two given metaschemas, based on their structural properties. A consolidation algorithm is designed to yield a consolidated metaschema maintaining the best and avoiding the worst of the two given metaschemas. The methodology and consolidation algorithm were applied to the pair of heuristic metaschemas, the top-down metaschema and the bottom-up metaschema, which have been derived from two studies involving two groups of UMLS experts. The results show that the consolidated metaschema has better structural properties than either of the two input metaschemas. Better structural properties are expected to lead to better utilization of a metaschema in orientation and visualization of the SN. Repetitive consolidation, which leads to further structural improvements, is also shown. The META and SN were created in the absence of a comprehensive curated genomics terminology. The internal consistency of the SN\u27s categories which are relevant to genomics is evaluated and changes to improve its ability to express genomic knowledge are proposed. The completeness of the SN with respect to genomic concepts is evaluated and conesponding extensions to the SN to fill identified gaps are proposed. Due to the size and complexity of the UMLS, errors are inevitable. A group auditing methodolgy is presented, where the ST assignments for groups of similar concepts are audited. The extent of an ST, which is the group of all concepts assigned this ST, is divided into groups of concepts that have been assigned exactly the same set of STs. An algorithm finds subgroups of suspicious concepts. The auditor is presented with these subgroups, which purportedly exhibit the same semantics, and thus he will notice different concepts with wrong or missing ST assignments. Another methodology partitions these groups into smaller, singly rooted, hierarchically organized sets used to audit the hierarchical relationships. The algorithmic methodologies are compared with a comprehensive manual audit and show a very high error recall with a much higher precision than the manual exhaustive review

    A Semantic Framework Supporting Multilayer Networks Analysis for Rare Diseases

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    Understanding the role played by genetic variations in diseases, exploring genomic variants, and discovering disease-associated loci are among the most pressing challenges of genomic medicine. A huge and ever-increasing amount of information is available to researchers to address these challenges. Unfortunately, it is stored in fragmented ontologies and databases, which use heterogeneous formats and poorly integrated schemas. To overcome these limitations, the authors propose a linked data approach, based on the formalism of multilayer networks, able to integrate and harmonize biomedical information from multiple sources into a single dense network covering different aspects on Neuroendocrine Neoplasms (NENs). The proposed integration schema consists of three interconnected layers representing, respectively, information on the disease, on the affected genes, on the related biological processes and molecular functions. An easy-to-use client-server application was also developed to browse and search for information on the model supporting multilayer network analysis

    Mapping data elements to terminological resources for integrating biomedical data sources

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    BACKGROUND: Data integration is a crucial task in the biomedical domain and integrating data sources is one approach to integrating data. Data elements (DEs) in particular play an important role in data integration. We combine schema- and instance-based approaches to mapping DEs to terminological resources in order to facilitate data sources integration. METHODS: We extracted DEs from eleven disparate biomedical sources. We compared these DEs to concepts and/or terms in biomedical controlled vocabularies and to reference DEs. We also exploited DE values to disambiguate underspecified DEs and to identify additional mappings. RESULTS: 82.5% of the 474 DEs studied are mapped to entries of a terminological resource and 74.7% of the whole set can be associated with reference DEs. Only 6.6% of the DEs had values that could be semantically typed. CONCLUSION: Our study suggests that the integration of biomedical sources can be achieved automatically with limited precision and largely facilitated by mapping DEs to terminological resources

    A Relevance Feedback-Based System For Quickly Narrowing Biomedical Literature Search Result

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    The online literature is an important source that helps people find the information. The quick increase of online literature makes the manual search process for the most relevant information a very time-consuming task and leads to sifting through many results to find the relevant ones. The existing search engines and online databases return a list of results that satisfy the user\u27s search criteria. The list is often too long for the user to go through every hit if he/she does not exactly know what he/she wants or/and does not have time to review them one by one. My focus is on how to find biomedical literature in a fastest way. In this dissertation, I developed a biomedical literature search system that uses relevance feedback mechanism, fuzzy logic, text mining techniques and Unified Medical Language System. The system extracts and decodes information from the online biomedical documents and uses the extracted information to first filter unwanted documents and then ranks the related ones based on the user preferences. I used text mining techniques to extract PDF document features and used these features to filter unwanted documents with the help of fuzzy logic. The system extracts meaning and semantic relations between texts and calculates the similarity between documents using these relations. Moreover, I developed a fuzzy literature ranking method that uses fuzzy logic, text mining techniques and Unified Medical Language System. The ranking process is utilized based on fuzzy logic and Unified Medical Language System knowledge resources. The fuzzy ranking method uses semantic type and meaning concepts to map the relations between texts in documents. The relevance feedback-based biomedical literature search system is evaluated using a real biomedical data that created using dobutamine (drug name). The data set contains 1,099 original documents. To obtain coherent and reliable evaluation results, two physicians are involved in the system evaluation. Using (30-day mortality) as specific query, the retrieved result precision improves by 87.7% in three rounds, which shows the effectiveness of using relevance feedback, fuzzy logic and UMLS in the search process. Moreover, the fuzzy-based ranking method is evaluated in term of ranking the biomedical search result. Experiments show that the fuzzy-based ranking method improves the average ranking order accuracy by 3.35% and 29.55% as compared with UMLS meaning and semantic type methods respectively

    Scalable Approaches for Auditing the Completeness of Biomedical Ontologies

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    An ontology provides a formalized representation of knowledge within a domain. In biomedicine, ontologies have been widely used in modern biomedical applications to enable semantic interoperability and facilitate data exchange. Given the important roles that biomedical ontologies play, quality issues such as incompleteness, if not addressed, can affect the quality of downstream ontology-driven applications. However, biomedical ontologies often have large sizes and complex structures. Thus, it is infeasible to uncover potential quality issues through manual effort. In this dissertation, we introduce automated and scalable approaches for auditing the completeness of biomedical ontologies. We mainly focus on two incompleteness issues -- missing hierarchical relations and missing concepts. To identify missing hierarchical relations, we develop three approaches: a lexical-based approach, a hybrid approach utilizing both lexical features and logical definitions, and an approach based on concept name transformation. To identify missing concepts, a lexical-based Formal Concept Analysis (FCA) method is proposed for concept enrichment. We also predict proper concept names for the missing concepts using deep learning techniques. Manual review by domain experts is performed to evaluate these approaches. In addition, we leverage extrinsic knowledge (i.e., external ontologies) to help validate the detected incompleteness issues. The auditing approaches have been applied to a variety of biomedical ontologies, including the SNOMED CT, National Cancer Institute (NCI) Thesaurus and Gene Ontology. In the first lexical-based approach to identify missing hierarchical relations, each concept is modeled with an enriched set of lexical features, leveraging words and noun phrases in the name of the concept itself and the concept\u27s ancestors. Given a pair of concepts that are not linked by a hierarchical relation, if the enriched lexical attributes of one concept is a superset of the other\u27s, a potentially missing hierarchical relation will be suggested. Applying this approach to the September 2017 release of SNOMED CT (US edition) suggested 38,615 potentially missing hierarchical relations. A domain expert reviewed a random sample of 100 potentially missing ones, and confirmed 90 are valid (a precision of 90%). In the second work, a hybrid approach is proposed to detect missing hierarchical relations in non-lattice subgraphs. For each concept, its lexical features are harmonized with role definitions to provide a more comprehensive semantic model. Then a two-step subsumption testing is performed to automatically suggest potentially missing hierarchical relations. This approach identified 55 potentially missing hierarchical relations in the 19.08d version of the NCI Thesaurus. 29 out of 55 were confirmed as valid by the curators from the NCI Enterprise Vocabulary Service (EVS) and have been incorporated in the newer versions of the NCI Thesaurus. 7 out of 55 further revealed incorrect existing hierarchical relations in the NCI Thesaurus. In the third work, we introduce a transformation-based method that leverages the Unified Medical Language System (UMLS) knowledge to identify missing hierarchical relations in its source ontologies. Given a concept name, noun chunks within it are identified and replaced by their more general counterparts to generate new concept names that are supposed to be more general than the original one. Applying this method to the UMLS (2019AB release), a total of 39,359 potentially missing hierarchical relations were detected in 13 source ontologies. Domain experts evaluated a random sample of 200 potentially missing hierarchical relations identified in the SNOMED CT (US edition), and 100 in the Gene Ontology. 173 out of 200 and 63 out of 100 potentially missing hierarchical relations were confirmed by domain experts, indicating our method achieved a precision of 86.5% and 63% for the SNOMED CT and Gene Ontology, respectively. In the work of concept enrichment, we introduce a lexical method based on FCA to identify potentially missing concepts. Lexical features (i.e., words appearing in the concept names) are considered as FCA attributes while generating formal context. Applying multistage intersection on FCA attributes results in newly formalized concepts along with bags of words that can be utilized to name the concepts. This method was applied to the Disease or Disorder sub-hierarchy in the 19.08d version of the NCI Thesaurus and identified 8,983 potentially missing concepts. We performed a preliminary evaluation and validated that 592 out of 8,983 potentially missing concepts were included in external ontologies in the UMLS. After obtaining new concepts and their relevant bags of words, we further developed deep learning-based approaches to automatically predict concept names that comply with the naming convention of a specific ontology. We explored simple neural network, Long Short-Term Memory (LSTM), and Convolutional Neural Network (CNN) combined with LSTM. Our experiments showed that the LSTM-based approach achieved the best performance with an F1 score of 63.41% for predicting names for newly added concepts in the March 2018 release of SNOMED CT (US Edition) and an F1 score of 73.95% for naming missing concepts revealed by our previous work. In the last part of this dissertation, extrinsic knowledge is leveraged to collect supporting evidence for the detected incompleteness issues. We present a work in which cross-ontology evaluation based on extrinsic knowledge from the UMLS is utilized to help validate potentially missing hierarchical relations, aiming at relieving the heavy workload of manual review
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