Biomedical word sense disambiguation with ontologies and metadata: automation meets accuracy

<p>Abstract</p> <p>Background</p> <p>Ontology term labels can be ambiguous and have multiple senses. While this is no problem for human annotators, it is a challenge to automated methods, which identify ontology terms in text. Classical approaches to word sense disambiguation use co-occurring words or terms. However, most treat ontologies as simple terminologies, without making use of the ontology structure or the semantic similarity between terms. Another useful source of information for disambiguation are metadata. Here, we systematically compare three approaches to word sense disambiguation, which use ontologies and metadata, respectively.</p> <p>Results</p> <p>The 'Closest Sense' method assumes that the ontology defines multiple senses of the term. It computes the shortest path of co-occurring terms in the document to one of these senses. The 'Term Cooc' method defines a log-odds ratio for co-occurring terms including co-occurrences inferred from the ontology structure. The 'MetaData' approach trains a classifier on metadata. It does not require any ontology, but requires training data, which the other methods do not. To evaluate these approaches we defined a manually curated training corpus of 2600 documents for seven ambiguous terms from the Gene Ontology and MeSH. All approaches over all conditions achieve 80% success rate on average. The 'MetaData' approach performed best with 96%, when trained on high-quality data. Its performance deteriorates as quality of the training data decreases. The 'Term Cooc' approach performs better on Gene Ontology (92% success) than on MeSH (73% success) as MeSH is not a strict is-a/part-of, but rather a loose is-related-to hierarchy. The 'Closest Sense' approach achieves on average 80% success rate.</p> <p>Conclusion</p> <p>Metadata is valuable for disambiguation, but requires high quality training data. Closest Sense requires no training, but a large, consistently modelled ontology, which are two opposing conditions. Term Cooc achieves greater 90% success given a consistently modelled ontology. Overall, the results show that well structured ontologies can play a very important role to improve disambiguation.</p> <p>Availability</p> <p>The three benchmark datasets created for the purpose of disambiguation are available in Additional file <supplr sid="S1">1</supplr>.</p> <suppl id="S1"> <title> <p>Additional file 1</p> </title> <text> <p><b>Benchmark datasets used in the experiments.</b> The three corpora (High quality/Low quantity corpus; Medium quality/Medium quantity corpus; Low quality/High quantity corpus) are given in the form of PubMed identifiers (PMID) for True/False cases for the 7 ambiguous terms examined (GO/MeSH/UMLS identifiers are also given).</p> </text> <file name="1471-2105-10-28-S1.txt"> <p>Click here for file</p> </file> </suppl

Word-sense disambiguation in biomedical ontologies

With the ever increase in biomedical literature, text-mining has emerged as an important technology to support bio-curation and search. Word sense disambiguation (WSD), the correct identification of terms in text in the light of ambiguity, is an important problem in text-mining. Since the late 1940s many approaches based on supervised (decision trees, naive Bayes, neural networks, support vector machines) and unsupervised machine learning (context-clustering, word-clustering, co-occurrence graphs) have been developed. Knowledge-based methods that make use of the WordNet computational lexicon have also been developed. But only few make use of ontologies, i.e. hierarchical controlled vocabularies, to solve the problem and none exploit inference over ontologies and the use of metadata from publications. This thesis addresses the WSD problem in biomedical ontologies by suggesting different approaches for word sense disambiguation that use ontologies and metadata. The "Closest Sense" method assumes that the ontology defines multiple senses of the term; it computes the shortest path of co-occurring terms in the document to one of these senses. The "Term Cooc" method defines a log-odds ratio for co-occurring terms including inferred co-occurrences. The "MetaData" approach trains a classifier on metadata; it does not require any ontology, but requires training data, which the other methods do not. These approaches are compared to each other when applied to a manually curated training corpus of 2600 documents for seven ambiguous terms from the Gene Ontology and MeSH. All approaches over all conditions achieve 80% success rate on average. The MetaData approach performs best with 96%, when trained on high-quality data. Its performance deteriorates as quality of the training data decreases. The Term Cooc approach performs better on Gene Ontology (92% success) than on MeSH (73% success) as MeSH is not a strict is-a/part-of, but rather a loose is-related-to hierarchy. The Closest Sense approach achieves on average 80% success rate. Furthermore, the thesis showcases applications ranging from ontology design to semantic search where WSD is important

Semi-automated Ontology Generation for Biocuration and Semantic Search

Background: In the life sciences, the amount of literature and experimental data grows at a tremendous rate. In order to effectively access and integrate these data, biomedical ontologies – controlled, hierarchical vocabularies – are being developed. Creating and maintaining such ontologies is a difficult, labour-intensive, manual process. Many computational methods which can support ontology construction have been proposed in the past. However, good, validated systems are largely missing. Motivation: The biocuration community plays a central role in the development of ontologies. Any method that can support their efforts has the potential to have a huge impact in the life sciences. Recently, a number of semantic search engines were created that make use of biomedical ontologies for document retrieval. To transfer the technology to other knowledge domains, suitable ontologies need to be created. One area where ontologies may prove particularly useful is the search for alternative methods to animal testing, an area where comprehensive search is of special interest to determine the availability or unavailability of alternative methods. Results: The Dresden Ontology Generator for Directed Acyclic Graphs (DOG4DAG) developed in this thesis is a system which supports the creation and extension of ontologies by semi-automatically generating terms, definitions, and parent-child relations from text in PubMed, the web, and PDF repositories. The system is seamlessly integrated into OBO-Edit and Protégé, two widely used ontology editors in the life sciences. DOG4DAG generates terms by identifying statistically significant noun-phrases in text. For definitions and parent-child relations it employs pattern-based web searches. Each generation step has been systematically evaluated using manually validated benchmarks. The term generation leads to high quality terms also found in manually created ontologies. Definitions can be retrieved for up to 78% of terms, child ancestor relations for up to 54%. No other validated system exists that achieves comparable results. To improve the search for information on alternative methods to animal testing an ontology has been developed that contains 17,151 terms of which 10% were newly created and 90% were re-used from existing resources. This ontology is the core of Go3R, the first semantic search engine in this field. When a user performs a search query with Go3R, the search engine expands this request using the structure and terminology of the ontology. The machine classification employed in Go3R is capable of distinguishing documents related to alternative methods from those which are not with an F-measure of 90% on a manual benchmark. Approximately 200,000 of the 19 million documents listed in PubMed were identified as relevant, either because a specific term was contained or due to the automatic classification. The Go3R search engine is available on-line under www.Go3R.org

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

Semi-automated Ontology Generation for Biocuration and Semantic Search

Background: In the life sciences, the amount of literature and experimental data grows at a tremendous rate. In order to effectively access and integrate these data, biomedical ontologies – controlled, hierarchical vocabularies – are being developed. Creating and maintaining such ontologies is a difficult, labour-intensive, manual process. Many computational methods which can support ontology construction have been proposed in the past. However, good, validated systems are largely missing. Motivation: The biocuration community plays a central role in the development of ontologies. Any method that can support their efforts has the potential to have a huge impact in the life sciences. Recently, a number of semantic search engines were created that make use of biomedical ontologies for document retrieval. To transfer the technology to other knowledge domains, suitable ontologies need to be created. One area where ontologies may prove particularly useful is the search for alternative methods to animal testing, an area where comprehensive search is of special interest to determine the availability or unavailability of alternative methods. Results: The Dresden Ontology Generator for Directed Acyclic Graphs (DOG4DAG) developed in this thesis is a system which supports the creation and extension of ontologies by semi-automatically generating terms, definitions, and parent-child relations from text in PubMed, the web, and PDF repositories. The system is seamlessly integrated into OBO-Edit and Protégé, two widely used ontology editors in the life sciences. DOG4DAG generates terms by identifying statistically significant noun-phrases in text. For definitions and parent-child relations it employs pattern-based web searches. Each generation step has been systematically evaluated using manually validated benchmarks. The term generation leads to high quality terms also found in manually created ontologies. Definitions can be retrieved for up to 78% of terms, child ancestor relations for up to 54%. No other validated system exists that achieves comparable results. To improve the search for information on alternative methods to animal testing an ontology has been developed that contains 17,151 terms of which 10% were newly created and 90% were re-used from existing resources. This ontology is the core of Go3R, the first semantic search engine in this field. When a user performs a search query with Go3R, the search engine expands this request using the structure and terminology of the ontology. The machine classification employed in Go3R is capable of distinguishing documents related to alternative methods from those which are not with an F-measure of 90% on a manual benchmark. Approximately 200,000 of the 19 million documents listed in PubMed were identified as relevant, either because a specific term was contained or due to the automatic classification. The Go3R search engine is available on-line under www.Go3R.org

A COMPARATIVE STUDY ON ONTOLOGY GENERATION AND TEXT CLUSTERING USING VSM, LSI, AND DOCUMENT ONTOLOGY MODELS

Although using ontologies to assist information retrieval and text document processing has recently attracted more and more attention, existing ontology-based approaches have not shown advantages over the traditional keywords-based Latent Semantic Indexing (LSI) method. This paper proposes an algorithm to extract a concept forest (CF) from a document with the assistance of a natural language ontology, the WordNet lexical database. Using concept forests to represent the semantics of text documents, the semantic similarities of these documents are then measured as the commonalities of their concept forests. Performance studies of text document clustering based on different document similarity measurement methods show that the CF-based similarity measurement is an effective alternative to the existing keywords-based methods. Especially, this CF-based approach has obvious advantages over the existing keywords-based methods, including LSI, in dealing with text abstract databases, such as MEDLINE, or in P2P environments where it is impractical to collect the entire document corpus for analysis

Knowledge-based Biomedical Data Science 2019

Knowledge-based biomedical data science (KBDS) involves the design and implementation of computer systems that act as if they knew about biomedicine. Such systems depend on formally represented knowledge in computer systems, often in the form of knowledge graphs. Here we survey the progress in the last year in systems that use formally represented knowledge to address data science problems in both clinical and biological domains, as well as on approaches for creating knowledge graphs. Major themes include the relationships between knowledge graphs and machine learning, the use of natural language processing, and the expansion of knowledge-based approaches to novel domains, such as Chinese Traditional Medicine and biodiversity.Comment: Manuscript 43 pages with 3 tables; Supplemental material 43 pages with 3 table