Meeting Medical Terminology Needs: The Ontology-enhanced Medical Concept Mapper

This paper describes the development and testing of the Medical Concept Mapper, a tool designed to facilitate access to online medical information sources by providing users with appropriate medical search terms for their personal queries. Our system is valuable for patients whose knowledge of medical vocabularies is inadequate to find the desired information, and for medical experts who search for information outside their field of expertise. The Medical Concept Mapper maps synonyms and semantically related concepts to a user\u27s query. The system is unique because it integrates our natural language processing tool, i.e., the Arizona (AZ) Noun Phraser, with human-created ontologies, the Unified Medical Language System (UMLS) and WordNet, and our computer generated Concept Space, into one system. Our unique contribution results from combining the UMLS Semantic Net with Concept Space in our deep semantic parsing (DSP) algorithm. This algorithm establishes a medical query context based on the UMLS Semantic Net, which allows Concept Space terms to be filtered so as to isolate related terms relevant to the query. We performed two user studies in which Medical Concept Mapper terms were compared against human experts\u27 terms. We conclude that the AZ Noun Phraser is well suited to extract medical phrases from user queries, that WordNet is not well suited to provide strictly medical synonyms, that the UMLS Metathesaurus is well suited to provide medical synonyms, and that Concept Space is well suited to provide related medical s, especially when these terms are limited by our DSP algorithm

Neurocognitive Informatics Manifesto.

Informatics studies all aspects of the structure of natural and artificial information systems. Theoretical and abstract approaches to information have made great advances, but human information processing is still unmatched in many areas, including information management, representation and understanding. Neurocognitive informatics is a new, emerging field that should help to improve the matching of artificial and natural systems, and inspire better computational algorithms to solve problems that are still beyond the reach of machines. In this position paper examples of neurocognitive inspirations and promising directions in this area are given

Logic-based assessment of the compatibility of UMLS ontology sources

Background: The UMLS Metathesaurus (UMLS-Meta) is currently the most comprehensive effort for integrating independently-developed medical thesauri and ontologies. UMLS-Meta is being used in many applications, including PubMed and ClinicalTrials.gov. The integration of new sources combines automatic techniques, expert assessment, and auditing protocols. The automatic techniques currently in use, however, are mostly based on lexical algorithms and often disregard the semantics of the sources being integrated. Results: In this paper, we argue that UMLS-Meta’s current design and auditing methodologies could be significantly enhanced by taking into account the logic-based semantics of the ontology sources. We provide empirical evidence suggesting that UMLS-Meta in its 2009AA version contains a significant number of errors; these errors become immediately apparent if the rich semantics of the ontology sources is taken into account, manifesting themselves as unintended logical consequences that follow from the ontology sources together with the information in UMLS-Meta. We then propose general principles and specific logic-based techniques to effectively detect and repair such errors. Conclusions: Our results suggest that the methodologies employed in the design of UMLS-Meta are not only very costly in terms of human effort, but also error-prone. The techniques presented here can be useful for both reducing human effort in the design and maintenance of UMLS-Meta and improving the quality of its contents

Ontologies and Information Extraction

This report argues that, even in the simplest cases, IE is an ontology-driven process. It is not a mere text filtering method based on simple pattern matching and keywords, because the extracted pieces of texts are interpreted with respect to a predefined partial domain model. This report shows that depending on the nature and the depth of the interpretation to be done for extracting the information, more or less knowledge must be involved. This report is mainly illustrated in biology, a domain in which there are critical needs for content-based exploration of the scientific literature and which becomes a major application domain for IE

Ontology learning for the semantic deep web

Ontologies could play an important role in assisting users in their search for Web pages. This dissertation considers the problem of constructing natural ontologies that support users in their Web search efforts and increase the number of relevant Web pages that are returned. To achieve this goal, this thesis suggests combining the Deep Web information, which consists of dynamically generated Web pages and cannot be indexed by the existing automated Web crawlers, with ontologies, resulting in the Semantic Deep Web. The Deep Web information is exploited in three different ways: extracting attributes from the Deep Web data sources automatically, generating domain ontologies from the Deep Web automatically, and extracting instances from the Deep Web to enhance the domain ontologies. Several algorithms for the above mentioned tasks are presented. Lxperimeiital results suggest that the proposed methods assist users with finding more relevant Web sites. Another contribution of this dissertation includes developing a methodology to evaluate existing general purpose ontologies using the Web as a corpus. The quality of ontologies (QoO) is quantified by analyzing existing ontologies to get numeric measures of how natural their concepts and their relationships are. This methodology was first applied to several major, popular ontologies, such as WordNet, OpenCyc and the UMLS. Subsequently the domain ontologies developed in this research were evaluated from the naturalness perspective

Concept graphs: Applications to biomedical text categorization and concept extraction

As science advances, the underlying literature grows rapidly providing valuable knowledge mines for researchers and practitioners. The text content that makes up these knowledge collections is often unstructured and, thus, extracting relevant or novel information could be nontrivial and costly. In addition, human knowledge and expertise are being transformed into structured digital information in the form of vocabulary databases and ontologies. These knowledge bases hold substantial hierarchical and semantic relationships of common domain concepts. Consequently, automating learning tasks could be reinforced with those knowledge bases through constructing human-like representations of knowledge. This allows developing algorithms that simulate the human reasoning tasks of content perception, concept identification, and classification. This study explores the representation of text documents using concept graphs that are constructed with the help of a domain ontology. In particular, the target data sets are collections of biomedical text documents, and the domain ontology is a collection of predefined biomedical concepts and relationships among them. The proposed representation preserves those relationships and allows using the structural features of graphs in text mining and learning algorithms. Those features emphasize the significance of the underlying relationship information that exists in the text content behind the interrelated topics and concepts of a text document. The experiments presented in this study include text categorization and concept extraction applied on biomedical data sets. The experimental results demonstrate how the relationships extracted from text and captured in graph structures can be used to improve the performance of the aforementioned applications. The discussed techniques can be used in creating and maintaining digital libraries through enhancing indexing, retrieval, and management of documents as well as in a broad range of domain-specific applications such as drug discovery, hypothesis generation, and the analysis of molecular structures in chemoinformatics

Semantic Enrichment of Ontology Mappings

Schema and ontology matching play an important part in the field of data integration and semantic web. Given two heterogeneous data sources, meta data matching usually constitutes the first step in the data integration workflow, which refers to the analysis and comparison of two input resources like schemas or ontologies. The result is a list of correspondences between the two schemas or ontologies, which is often called mapping or alignment. Many tools and research approaches have been proposed to automatically determine those correspondences. However, most match tools do not provide any information about the relation type that holds between matching concepts, for the simple but important reason that most common match strategies are too simple and heuristic to allow any sophisticated relation type determination. Knowing the specific type holding between two concepts, e.g., whether they are in an equality, subsumption (is-a) or part-of relation, is very important for advanced data integration tasks, such as ontology merging or ontology evolution. It is also very important for mappings in the biological or biomedical domain, where is-a and part-of relations may exceed the number of equality correspondences by far. Such more expressive mappings allow much better integration results and have scarcely been in the focus of research so far. In this doctoral thesis, the determination of the correspondence types in a given mapping is the focus of interest, which is referred to as semantic mapping enrichment. We introduce and present the mapping enrichment tool STROMA, which obtains a pre-calculated schema or ontology mapping and for each correspondence determines a semantic relation type. In contrast to previous approaches, we will strongly focus on linguistic laws and linguistic insights. By and large, linguistics is the key for precise matching and for the determination of relation types. We will introduce various strategies that make use of these linguistic laws and are able to calculate the semantic type between two matching concepts. The observations and insights gained from this research go far beyond the field of mapping enrichment and can be also applied to schema and ontology matching in general. Since generic strategies have certain limits and may not be able to determine the relation type between more complex concepts, like a laptop and a personal computer, background knowledge plays an important role in this research as well. For example, a thesaurus can help to recognize that these two concepts are in an is-a relation. We will show how background knowledge can be effectively used in this instance, how it is possible to draw conclusions even if a concept is not contained in it, how the relation types in complex paths can be resolved and how time complexity can be reduced by a so-called bidirectional search. The developed techniques go far beyond the background knowledge exploitation of previous approaches, and are now part of the semantic repository SemRep, a flexible and extendable system that combines different lexicographic resources. Further on, we will show how additional lexicographic resources can be developed automatically by parsing Wikipedia articles. The proposed Wikipedia relation extraction approach yields some millions of additional relations, which constitute significant additional knowledge for mapping enrichment. The extracted relations were also added to SemRep, which thus became a comprehensive background knowledge resource. To augment the quality of the repository, different techniques were used to discover and delete irrelevant semantic relations. We could show in several experiments that STROMA obtains very good results w.r.t. relation type detection. In a comparative evaluation, it was able to achieve considerably better results than related applications. This corroborates the overall usefulness and strengths of the implemented strategies, which were developed with particular emphasis on the principles and laws of linguistics

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

The Requirements for Ontologies in Medical Data Integration: A Case Study

Evidence-based medicine is critically dependent on three sources of information: a medical knowledge base, the patients medical record and knowledge of available resources, including where appropriate, clinical protocols. Patient data is often scattered in a variety of databases and may, in a distributed model, be held across several disparate repositories. Consequently addressing the needs of an evidence-based medicine community presents issues of biomedical data integration, clinical interpretation and knowledge management. This paper outlines how the Health-e-Child project has approached the challenge of requirements specification for (bio-) medical data integration, from the level of cellular data, through disease to that of patient and population. The approach is illuminated through the requirements elicitation and analysis of Juvenile Idiopathic Arthritis (JIA), one of three diseases being studied in the EC-funded Health-e-Child project.Comment: 6 pages, 1 figure. Presented at the 11th International Database Engineering & Applications Symposium (Ideas2007). Banff, Canada September 200