Collocation analysis for UMLS knowledge-based word sense disambiguation

BACKGROUND: The effectiveness of knowledge-based word sense disambiguation (WSD) approaches depends in part on the information available in the reference knowledge resource. Off the shelf, these resources are not optimized for WSD and might lack terms to model the context properly. In addition, they might include noisy terms which contribute to false positives in the disambiguation results. METHODS: We analyzed some collocation types which could improve the performance of knowledge-based disambiguation methods. Collocations are obtained by extracting candidate collocations from MEDLINE and then assigning them to one of the senses of an ambiguous word. We performed this assignment either using semantic group profiles or a knowledge-based disambiguation method. In addition to collocations, we used second-order features from a previously implemented approach.Specifically, we measured the effect of these collocations in two knowledge-based WSD methods. The first method, AEC, uses the knowledge from the UMLS to collect examples from MEDLINE which are used to train a Naïve Bayes approach. The second method, MRD, builds a profile for each candidate sense based on the UMLS and compares the profile to the context of the ambiguous word.We have used two WSD test sets which contain disambiguation cases which are mapped to UMLS concepts. The first one, the NLM WSD set, was developed manually by several domain experts and contains words with high frequency occurrence in MEDLINE. The second one, the MSH WSD set, was developed automatically using the MeSH indexing in MEDLINE. It contains a larger set of words and covers a larger number of UMLS semantic types. RESULTS: The results indicate an improvement after the use of collocations, although the approaches have different performance depending on the data set. In the NLM WSD set, the improvement is larger for the MRD disambiguation method using second-order features. Assignment of collocations to a candidate sense based on UMLS semantic group profiles is more effective in the AEC method.In the MSH WSD set, the increment in performance is modest for all the methods. Collocations combined with the MRD disambiguation method have the best performance. The MRD disambiguation method and second-order features provide an insignificant change in performance. The AEC disambiguation method gives a modest improvement in performance. Assignment of collocations to a candidate sense based on knowledge-based methods has better performance. CONCLUSIONS: Collocations improve the performance of knowledge-based disambiguation methods, although results vary depending on the test set and method used. Generally, the AEC method is sensitive to query drift. Using AEC, just a few selected terms provide a large improvement in disambiguation performance. The MRD method handles noisy terms better but requires a larger set of terms to improve performance

Doctor of Philosophy

dissertationDomain adaptation of natural language processing systems is challenging because it requires human expertise. While manual e ort is e ective in creating a high quality knowledge base, it is expensive and time consuming. Clinical text adds another layer of complexity to the task due to privacy and con dentiality restrictions that hinder the ability to share training corpora among di erent research groups. Semantic ambiguity is a major barrier for e ective and accurate concept recognition by natural language processing systems. In my research I propose an automated domain adaptation method that utilizes sublanguage semantic schema for all-word word sense disambiguation of clinical narrative. According to the sublanguage theory developed by Zellig Harris, domain-speci c language is characterized by a relatively small set of semantic classes that combine into a small number of sentence types. Previous research relied on manual analysis to create language models that could be used for more e ective natural language processing. Building on previous semantic type disambiguation research, I propose a method of resolving semantic ambiguity utilizing automatically acquired semantic type disambiguation rules applied on clinical text ambiguously mapped to a standard set of concepts. This research aims to provide an automatic method to acquire Sublanguage Semantic Schema (S3) and apply this model to disambiguate terms that map to more than one concept with di erent semantic types. The research is conducted using unmodi ed MetaMap version 2009, a concept recognition system provided by the National Library of Medicine, applied on a large set of clinical text. The project includes creating and comparing models, which are based on unambiguous concept mappings found in seventeen clinical note types. The e ectiveness of the nal application was validated through a manual review of a subset of processed clinical notes using recall, precision and F-score metrics

Mejora de un corpus extraído automáticamente para desambiguar términos del UMLS Metathesaurus

Anotar a mano un conjunto de ejemplos para entrenar métodos de aprendizaje automático para desambiguar anotaciones con conceptos del UMLS Metathesaurus no es posible debido a su elevado coste. En este artículo, evaluamos dos métodos para mejorar la calidad de un corpus obtenido de manera automática. El primer método busca términos específicos y el segundo filtra falsos positivos. La combinación de los dos métodos obtiene una mejora de 6% en F-measure y un 8% en recall, comparado con el corpus original extraído de manera automática.Manually annotated data is expensive, so manually covering a large terminological resource like the UMLS Metathesaurus is infeasible. In this paper, we evaluate two approaches used to improve the quality of an automatically extracted corpus to train statistical learners to performWSD. The first one contributes to more specific terms while the second filters out false positives. Using both approaches, we have obtained an improvement on the original automatic extracted corpus of approximately 6% in F-measure and 8% in recall

Foundation, Implementation and Evaluation of the MorphoSaurus System: Subword Indexing, Lexical Learning and Word Sense Disambiguation for Medical Cross-Language Information Retrieval

Im medizinischen Alltag, zu welchem viel Dokumentations- und Recherchearbeit gehört, ist mittlerweile der überwiegende Teil textuell kodierter Information elektronisch verfügbar. Hiermit kommt der Entwicklung leistungsfähiger Methoden zur effizienten Recherche eine vorrangige Bedeutung zu. Bewertet man die Nützlichkeit gängiger Textretrievalsysteme aus dem Blickwinkel der medizinischen Fachsprache, dann mangelt es ihnen an morphologischer Funktionalität (Flexion, Derivation und Komposition), lexikalisch-semantischer Funktionalität und der Fähigkeit zu einer sprachübergreifenden Analyse großer Dokumentenbestände. In der vorliegenden Promotionsschrift werden die theoretischen Grundlagen des MorphoSaurus-Systems (ein Akronym für Morphem-Thesaurus) behandelt. Dessen methodischer Kern stellt ein um Morpheme der medizinischen Fach- und Laiensprache gruppierter Thesaurus dar, dessen Einträge mittels semantischer Relationen sprachübergreifend verknüpft sind. Darauf aufbauend wird ein Verfahren vorgestellt, welches (komplexe) Wörter in Morpheme segmentiert, die durch sprachunabhängige, konzeptklassenartige Symbole ersetzt werden. Die resultierende Repräsentation ist die Basis für das sprachübergreifende, morphemorientierte Textretrieval. Neben der Kerntechnologie wird eine Methode zur automatischen Akquise von Lexikoneinträgen vorgestellt, wodurch bestehende Morphemlexika um weitere Sprachen ergänzt werden. Die Berücksichtigung sprachübergreifender Phänomene führt im Anschluss zu einem neuartigen Verfahren zur Auflösung von semantischen Ambiguitäten. Die Leistungsfähigkeit des morphemorientierten Textretrievals wird im Rahmen umfangreicher, standardisierter Evaluationen empirisch getestet und gängigen Herangehensweisen gegenübergestellt

Unsupervised Biomedical Named Entity Recognition

Named entity recognition (NER) from text is an important task for several applications, including in the biomedical domain. Supervised machine learning based systems have been the most successful on NER task, however, they require correct annotations in large quantities for training. Annotating text manually is very labor intensive and also needs domain expertise. The purpose of this research is to reduce human annotation effort and to decrease cost of annotation for building NER systems in the biomedical domain. The method developed in this work is based on leveraging the availability of resources like UMLS (Unified Medical Language System), that contain a list of biomedical entities and a large unannotated corpus to build an unsupervised NER system that does not require any manual annotations. The method that we developed in this research has two phases. In the first phase, a biomedical corpus is automatically annotated with some named entities using UMLS through unambiguous exact matching which we call weakly-labeled data. In this data, positive examples are the entities in the text that exactly match in UMLS and have only one semantic type which belongs to the desired entity class to be extracted (for example, diseases and disorders). Negative examples are the entities in the text that exactly match in UMLS but are of semantic types other than those that belong to the desired entity class. These examples are then used to train a machine learning classifier using features that represent the contexts in which they appeared in the text. The trained classifier is applied back to the text to gather more examples iteratively through the process of self-training. The trained classifier is then capable of classifying mentions in an unseen text as of the desired entity class or not from the contexts in which they appear. Although the trained named entity detector is good at detecting the presence of entities of the desired class in text, it cannot determine their correct boundaries. In the second phase of our method, called “Boundary Expansion”, the correct boundaries of the entities are determined. This method is based on a novel idea that utilizes machine learning and UMLS. Training examples for boundary expansion are gathered directly from UMLS and do not require any manual annotations. We also developed a new WordNet based approach for boundary expansion. Our developed method was evaluated on three datasets - SemEval 2014 Task 7 dataset that has diseases and disorders as the desired entity class, GENIA dataset that has proteins, DNAs, RNAs, cell types, and cell lines as the desired entity classes, and i2b2 dataset that has problems, tests, and treatments as the desired entity classes. Our method performed well and obtained performance close to supervised methods on the SemEval dataset. On the other datasets, it outperformed an existing unsupervised method on most entity classes. Availability of a list of entity names with their semantic types and a large unannotated corpus are the only requirements of our method to work well. Given these, our method generalizes across different types of entities and different types of biomedical text. Being unsupervised, the method can be easily applied to new NER tasks without needing costly annotations

Investigating Genotype-Phenotype relationship extraction from biomedical text

During the last decade biomedicine has developed at a tremendous pace. Every day a lot of biomedical papers are published and a large amount of new information is produced. To help enable automated and human interaction in the multitude of applications of this biomedical data, the need for Natural Language Processing systems to process the vast amount of new information is increasing. Our main purpose in this research project is to extract the relationships between genotypes and phenotypes mentioned in the biomedical publications. Such a system provides important and up-to-date data for database construction and updating, and even text summarization. To achieve this goal we had to solve three main problems: finding genotype names, finding phenotype names, and finally extracting phenotype--genotype interactions. We consider all these required modules in a comprehensive system and propose a promising solution for each of them taking into account available tools and resources. BANNER, an open source biomedical named entity recognition system, which has achieved good results in detecting genotypes, has been used for the genotype name recognition task. We were the first group to start working on phenotype name recognition. We have developed two different systems (rule-based and machine-learning based) for extracting phenotype names from text. These systems incorporated the available knowledge from the Unified Medical Language System metathesaurus and the Human Phenotype Onotolgy (HPO). As there was no available annotated corpus for phenotype names, we created a valuable corpus with annotated phenotype names using information available in HPO and a self-training method which can be used for future research. To solve the final problem of this project i.e. , phenotype--genotype relationship extraction, a machine learning method has been proposed. As there was no corpus available for this task and it was not possible for us to annotate a sufficiently large corpus manually, a semi-automatic approach has been used to annotate a small corpus and a self-training method has been proposed to annotate more sentences and enlarge this corpus. A test set was manually annotated by an expert. In addition to having phenotype-genotype relationships annotated, the test set contains important comments about the nature of these relationships. The evaluation results related to each system demonstrate the significantly good performance of all the proposed methods

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

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

Métodos baseados em grafos para desambiguação de conceitos biomédicos

Mestrado em Engenharia de Computadores e TelemáticaDesambiguação do sentido das palavras é a tarefa de atribuir um significado inequívoco a uma palavra ou termo ambíguo, tendo em conta o contexto em que este está inserido. O domínio da biomedicina contem um grande número de termos ambíguos, não identificar corretamente o sentido associado a cada termo tem um impacto negativo na performance de aplicações biomédicas tais como as de anotação automática e indexação, as quais são cada vez mais de extrema importância no contexto biomédico e clinico, dado o rápido crescimen-to da informação digital disponível para os investigadores. Este tese foca-se na desambiguação de termos biomédicos e apresenta uma solução que atribui identificadores únicos a palavras ambíguas baseando-se, para isso, no Unified Medical Language System (UMLS). O método proposto é uma aproximação baseada em fontes de conhecimento a qual não necessita de dados de treino, sendo assim uma solução generalizada que pode ser am-plamente aplicada para resolver ambiguidades no domínio biomédico. Este método baseia-se em grafos obtidos a partir do UMLS, tendo em consideração os conceitos presentes no contexto da palavra ambígua, e utiliza um algoritmo de PageRank para atribuir pontuações aos grafos. Adicionalmente foi desen-volvido e disponibilizado um web-service para uma fácil integração em aplica-ções de terceiros, com o objetivo de munir essas aplicações com um módulo fácil de usar e com grande potencial. O sistema foi testado e avaliado utilizando uma coleção de testes de desambi-guação de conceitos, desenvolvido pelo U.S. National Library of Medicine, especificamente o MSH WSD Test Collection, um conjunto de dados que con-tém mais de 37 mil ocorrências de 203 termos ambíguos. Os melhores resultados obtidos pelo sistema proposto alcançaram uma preci-são de 63.3% no subset do MSH WSD Test Collection.Word Sense Disambiguation (WSD) is the task of assigning a unique meaning to an ambiguous word or term, given the specific context it is inserted in. The biomedical field contains a large number of ambiguous terms, and not being able to correctly identify the correct sense associated to a term has a negative impact on the accuracy of biomedical applications such as automatic annota-tion and indexing, which are becoming of utmost importance in the biomedical and clinical world given the fast growing amount of digital information available to researchers. This thesis focuses on disambiguation of biomedical terms and presents a solu-tion that can assign unique identifiers to target words based on Unified Medical Language System (UMLS). The method proposed is a knowledge-based ap-proach where no training data is required, thus being a more general solution that can be widely applied to solve ambiguities in the biomedical domain. This method relies on graphs obtained from the UMLS, taking into consideration the concepts from the context of the ambiguous word, and uses a PageRank algo-rithm to score such graphs. Furthermore a web-service was developed and made available for an easy integration in third-party applications, in order to provide such applications with a powerful and easy to use module. The system was tested and evaluated using a WSD test collection provided by the U.S. National Library of Medicine, specifically the MSH WSD Test Collec-tion, a dataset containing over 37 thousand occurrences of 203 ambiguous terms. The best performing results of the proposed system achieve an accuracy of 63.3% for a subset of the MSH WSD Test Collection