Journal Of Biomedical Semantics[JOURNAL]
Sun
200 papers
Seeing the whole picture: integrated pre-surgery reports with PreOptique.
Vega-Gorgojo G, Slaughter L, Giese M
J Biomed Semantics · 2019 Mar · PMID 30832727 · Full text
BACKGROUND: Information technology has transformed the way healthcare is conducted. There is a deluge of patient data dispersed in different systems that are commonly not interoperable. As a result, access to patient dat...
BACKGROUND: Information technology has transformed the way healthcare is conducted. There is a deluge of patient data dispersed in different systems that are commonly not interoperable. As a result, access to patient data has become a major bottleneck for healthcare professionals that struggle to find the relevant information in a timely way and without missing critical clinical information. RESULTS: We implemented PreOptique, a novel hybrid semantic and text-based system that was commissioned by a large hospital in Norway for providing integrated access to patient health records scattered over several databases and document repositories. We use ontology-based data access (OBDA) for the seamless integration of the structured databases at the hospital through the Optique platform. We employ text analysis techniques to extract vital sign measures and clinical findings from patient documents. PreOptique was developed and deployed at the hospital. This solution demonstrates how OBDA technology can provide integrated data access to disparate structured sources in healthcare, without requiring the replacement of existing databases. Unstructured clinical texts are also mined to extract patient findings, while the graphical user interface (GUI) provides a single access point that hides the underlying complexity of the system. We ran a usability study with 5 target users, obtaining a system usability score (SUS) of 86.0. Further, participants in the study stressed the simplicity of the GUI and the integration of data sources enabled by the system. CONCLUSIONS: This pilot study showcases the use of OBDA technology and text analysis to enable the integration of patient data for supporting clinical surgery operations. PreOptique is usable and can be easily employed by medical personnel to find patient data in a timely way.
Levels and building blocks-toward a domain granularity framework for the life sciences.
Vogt L
J Biomed Semantics · 2019 Jan · PMID 30691505 · Full text
BACKGROUND: With the emergence of high-throughput technologies, Big Data and eScience, the use of online data repositories and the establishment of new data standards that require data to be computer-parsable become incr...
BACKGROUND: With the emergence of high-throughput technologies, Big Data and eScience, the use of online data repositories and the establishment of new data standards that require data to be computer-parsable become increasingly important. As a consequence, there is an increasing need for an integrated system of hierarchies of levels of different types of material entities that helps with organizing, structuring and integrating data from disparate sources to facilitate data exploration, data comparison and analysis. Theories of granularity provide such integrated systems. RESULTS: On the basis of formal approaches to theories of granularity authored by information scientists and ontology researchers, I discuss the shortcomings of some applications of the concept of levels and argue that the general theory of granularity proposed by Keet circumvents these problems. I introduce the concept of building blocks, which gives rise to a hierarchy of levels that can be formally characterized by Keet's theory. This hierarchy functions as an organizational backbone for integrating various other hierarchies that I briefly discuss, resulting in a domain granularity framework for the life sciences. I also discuss the consequences of this granularity framework for the structure of the top-level category of 'material entity' in Basic Formal Ontology. CONCLUSIONS: The domain granularity framework suggested here is meant to provide the basis on which a more comprehensive information framework for the life sciences can be developed, which would provide the much needed conceptual framework for representing domains that cover multiple granularity levels. This framework can be used for intuitively structuring data in the life sciences, facilitating data exploration, and it can be employed for reasoning over different granularity levels across different hierarchies. It would provide a methodological basis for establishing comparability between data sets and for quantitatively measuring their degree of semantic similarity.
A neural classification method for supporting the creation of BioVerbNet.
Chiu B, Majewska O, Pyysalo S … +4 more , Wey L, Stenius U, Korhonen A, Palmer M
J Biomed Semantics · 2019 Jan · PMID 30658707 · Full text
BACKGROUND: VerbNet, an extensive computational verb lexicon for English, has proved useful for supporting a wide range of Natural Language Processing tasks requiring information about the behaviour and meaning of verbs....
BACKGROUND: VerbNet, an extensive computational verb lexicon for English, has proved useful for supporting a wide range of Natural Language Processing tasks requiring information about the behaviour and meaning of verbs. Biomedical text processing and mining could benefit from a similar resource. We take the first step towards the development of BioVerbNet: A VerbNet specifically aimed at describing verbs in the area of biomedicine. Because VerbNet-style classification is extremely time consuming, we start from a small manual classification of biomedical verbs and apply a state-of-the-art neural representation model, specifically developed for class-based optimization, to expand the classification with new verbs, using all the PubMed abstracts and the full articles in the PubMed Central Open Access subset as data. RESULTS: Direct evaluation of the resulting classification against BioSimVerb (verb similarity judgement data in biomedicine) shows promising results when representation learning is performed using verb class-based contexts. Human validation by linguists and biologists reveals that the automatically expanded classification is highly accurate. Including novel, valid member verbs and classes, our method can be used to facilitate cost-effective development of BioVerbNet. CONCLUSION: This work constitutes the first effort on applying a state-of-the-art architecture for neural representation learning to biomedical verb classification. While we discuss future optimization of the method, our promising results suggest that the automatic classification released with this article can be used to readily support application tasks in biomedicine.
Development of a cardiac-centered frailty ontology.
Doing-Harris K, Bray BE, Thackeray A … +6 more , Shah RU, Shao Y, Cheng Y, Zeng-Treitler Q, Garvin JH, Weir C
J Biomed Semantics · 2019 Jan · PMID 30658684 · Full text
BACKGROUND: A Cardiac-centered Frailty Ontology can be an important foundation for using NLP to assess patient frailty. Frailty is an important consideration when making patient treatment decisions, particularly in older...
BACKGROUND: A Cardiac-centered Frailty Ontology can be an important foundation for using NLP to assess patient frailty. Frailty is an important consideration when making patient treatment decisions, particularly in older adults, those with a cardiac diagnosis, or when major surgery is a consideration. Clinicians often report patient's frailty in progress notes and other documentation. Frailty is recorded in many different ways in patient records and many different validated frailty-measuring instruments are available, with little consistency across instruments. We specifically explored concepts relevant to decisions regarding cardiac interventions. We based our work on text found in a large corpus of clinical notes from the Department of Veterans Affairs (VA) national Electronic Health Record (EHR) database. RESULTS: The full ontology has 156 concepts, with 246 terms. It includes 86 concepts we expect to find in clinical documents, with 12 qualifier values. The remaining 58 concepts represent hierarchical groups (e.g., physical function findings). Our top-level class is clinical finding, which has children clinical history finding, instrument finding, and physical examination finding, reflecting the OGMS definition of clinical finding. Instrument finding is any score found for the existing frailty instruments. Within our ontology, we used SNOMED-CT concepts where possible. Some of the 86 concepts we expect to find in clinical documents are associated with the properties like ability interpretation. The concept ability to walk can either be able, assisted or unable. Each concept-property level pairing gets a different frailty score. Each scored concept received three scores: a frailty score, a relevance to cardiac decisions score, and a likelihood of resolving after the recommended intervention score. The ontology includes the relationship between scores from ten frailty instruments and frailty as assessed using ontology concepts. It also included rules for mapping ontology elements to instrument items for three common frailty assessment instruments. Ontology elements are used in two clinical NLP systems. CONCLUSIONS: We developed and validated a Cardiac-centered Frailty Ontology, which is a machine-interoperable description of frailty that reflects all the areas that clinicians consider when deciding which cardiac intervention will best serve the patient as well as frailty indications generally relevant to medical decisions. The ontology owl file is available on Bioportal at http://bioportal.bioontology.org/ontologies/CCFO .
Identification of conclusive association entities in biomedical articles.
Liu RL
J Biomed Semantics · 2019 Jan · PMID 30616688 · Full text
BACKGROUND: Conclusive association entities (CAEs) in a biomedical article a are those biomedical entities (e.g., genes, diseases, and chemicals) that are specifically involved in the associations concluded in a. Identif...
BACKGROUND: Conclusive association entities (CAEs) in a biomedical article a are those biomedical entities (e.g., genes, diseases, and chemicals) that are specifically involved in the associations concluded in a. Identification of CAEs among candidate entities in the title and the abstract of an article is essential for curation and exploration of conclusive findings in biomedical literature. However, the identification is challenging, as it is difficult to conduct semantic analysis to determine whether an entity is a specific target on which the reported findings are conclusive enough. RESULTS: We investigate how five types of statistical indicators can contribute to prioritizing the candidate entities so that CAEs can be ranked on the top for exploratory analysis. The indicators work on titles and abstracts of articles. They are evaluated by the CAEs designated by biomedical experts to curate entity associations concluded in articles. The indicators have significantly different performance in ranking the CAEs identified by the biomedical experts. Some indicators do not perform well in CAE identification, even though they were used in many techniques for article retrieval and keyword extraction. Learning-based fusion of certain indicators can further improve performance. Most of the articles have at least one of their CAEs successfully ranked at top-2 positions. The CAEs can be visualized to support exploratory analysis of conclusive results on the CAEs. CONCLUSION: With proper fusion of the statistical indicators, CAEs in biomedical articles can be identified for exploratory analysis. The results are essential for the indexing of biomedical articles to support validation of highly related conclusive findings in biomedical literature.
Investigating the role of interleukin-1 beta and glutamate in inflammatory bowel disease and epilepsy using discovery browsing.
Rindflesch TC, Blake CL, Cairelli MJ … +3 more , Fiszman M, Zeiss CJ, Kilicoglu H
J Biomed Semantics · 2018 Dec · PMID 30587224 · Full text
BACKGROUND: Structured electronic health records are a rich resource for identifying novel correlations, such as co-morbidities and adverse drug reactions. For drug development and better understanding of biomedical phen...
BACKGROUND: Structured electronic health records are a rich resource for identifying novel correlations, such as co-morbidities and adverse drug reactions. For drug development and better understanding of biomedical phenomena, such correlations need to be supported by viable hypotheses about the mechanisms involved, which can then form the basis of experimental investigations. METHODS: In this study, we demonstrate the use of discovery browsing, a literature-based discovery method, to generate plausible hypotheses elucidating correlations identified from structured clinical data. The method is supported by Semantic MEDLINE web application, which pinpoints interesting concepts and relevant MEDLINE citations, which are used to build a coherent hypothesis. RESULTS: Discovery browsing revealed a plausible explanation for the correlation between epilepsy and inflammatory bowel disease that was found in an earlier population study. The generated hypothesis involves interleukin-1 beta (IL-1 beta) and glutamate, and suggests that IL-1 beta influence on glutamate levels is involved in the etiology of both epilepsy and inflammatory bowel disease. CONCLUSIONS: The approach presented in this paper can supplement population-based correlation studies by enabling the scientist to identify literature that may justify the novel patterns identified in such studies and can underpin basic biomedical research that can lead to improved treatments and better healthcare outcomes.
Ontoserver: a syndicated terminology server.
Metke-Jimenez A, Steel J, Hansen D … +1 more , Lawley M
J Biomed Semantics · 2018 Sep · PMID 30223897 · Full text
BACKGROUND: Even though several high-quality clinical terminologies, such as SNOMED CT and LOINC, are readily available, uptake in clinical systems has been slow and many continue to capture information in plain text or...
BACKGROUND: Even though several high-quality clinical terminologies, such as SNOMED CT and LOINC, are readily available, uptake in clinical systems has been slow and many continue to capture information in plain text or using custom terminologies. This paper discusses some of the challenges behind this slow uptake and describes a clinical terminology server implementation that aims to overcome these obstacles and contribute to the widespread adoption of standardised clinical terminologies. RESULTS: Ontoserver is a clinical terminology server based on the Fast Health Interoperability Resources (FHIR) standard. Some of its key features include: out-of-the-box support for SNOMED CT, LOINC and OWL ontologies, such as the Human Phenotype Ontology (HPO); a fast, prefix-based search algorithm to ensure users can easily find content and are not discouraged from entering coded data; a syndication mechanism to facilitate keeping terminologies up to date; and a full implementation of SNOMED CT's Expression Constraint Language (ECL), which enables sophisticated data analytics. CONCLUSIONS: Ontoserver has been designed to overcome some of the challenges that have hindered adoption of standardised clinical terminologies and is used in several organisations throughout Australia. Increasing adoption is an important goal because it will help improve the quality of clinical data, which can lead to better clinical decision support and ultimately to better patient outcomes.
Using predicate and provenance information from a knowledge graph for drug efficacy screening.
Vlietstra WJ, Vos R, Sijbers AM … +2 more , van Mulligen EM, Kors JA
J Biomed Semantics · 2018 Sep · PMID 30189889 · Full text
BACKGROUND: Biomedical knowledge graphs have become important tools to computationally analyse the comprehensive body of biomedical knowledge. They represent knowledge as subject-predicate-object triples, in which the pr...
BACKGROUND: Biomedical knowledge graphs have become important tools to computationally analyse the comprehensive body of biomedical knowledge. They represent knowledge as subject-predicate-object triples, in which the predicate indicates the relationship between subject and object. A triple can also contain provenance information, which consists of references to the sources of the triple (e.g. scientific publications or database entries). Knowledge graphs have been used to classify drug-disease pairs for drug efficacy screening, but existing computational methods have often ignored predicate and provenance information. Using this information, we aimed to develop a supervised machine learning classifier and determine the added value of predicate and provenance information for drug efficacy screening. To ensure the biological plausibility of our method we performed our research on the protein level, where drugs are represented by their drug target proteins, and diseases by their disease proteins. RESULTS: Using random forests with repeated 10-fold cross-validation, our method achieved an area under the ROC curve (AUC) of 78.1% and 74.3% for two reference sets. We benchmarked against a state-of-the-art knowledge-graph technique that does not use predicate and provenance information, obtaining AUCs of 65.6% and 64.6%, respectively. Classifiers that only used predicate information performed superior to classifiers that only used provenance information, but using both performed best. CONCLUSION: We conclude that both predicate and provenance information provide added value for drug efficacy screening.
Representing vaccine misinformation using ontologies.
Amith M, Tao C
J Biomed Semantics · 2018 Aug · PMID 30170633 · Full text
BACKGROUND: In this paper, we discuss the design and development of a formal ontology to describe misinformation about vaccines. Vaccine misinformation is one of the drivers leading to vaccine hesitancy in patients. Whil...
BACKGROUND: In this paper, we discuss the design and development of a formal ontology to describe misinformation about vaccines. Vaccine misinformation is one of the drivers leading to vaccine hesitancy in patients. While there are various levels of vaccine hesitancy to combat and specific interventions to address those levels, it is important to have tools that help researchers understand this problem. With an ontology, not only can we collect and analyze varied misunderstandings about vaccines, but we can also develop tools that can provide informatics solutions. RESULTS: We developed the Vaccine Misinformation Ontology (VAXMO) that extends the Misinformation Ontology and links to the nanopublication Resource Description Framework (RDF) model for false assertions of vaccines. Preliminary assessment using semiotic evaluation metrics indicated adequate quality for our ontology. We outlined and demonstrated proposed uses of the ontology to detect and understand anti-vaccine information. CONCLUSION: We surmised that VAXMO and its proposed use cases can support tools and technology that can pave the way for vaccine misinformation detection and analysis. Using an ontology, we can formally structure knowledge for machines and software to better understand the vaccine misinformation domain.
Biomedical ontology alignment: an approach based on representation learning.
Kolyvakis P, Kalousis A, Smith B … +1 more , Kiritsis D
J Biomed Semantics · 2018 Aug · PMID 30111369 · Full text
BACKGROUND: While representation learning techniques have shown great promise in application to a number of different NLP tasks, they have had little impact on the problem of ontology matching. Unlike past work that has...
BACKGROUND: While representation learning techniques have shown great promise in application to a number of different NLP tasks, they have had little impact on the problem of ontology matching. Unlike past work that has focused on feature engineering, we present a novel representation learning approach that is tailored to the ontology matching task. Our approach is based on embedding ontological terms in a high-dimensional Euclidean space. This embedding is derived on the basis of a novel phrase retrofitting strategy through which semantic similarity information becomes inscribed onto fields of pre-trained word vectors. The resulting framework also incorporates a novel outlier detection mechanism based on a denoising autoencoder that is shown to improve performance. RESULTS: An ontology matching system derived using the proposed framework achieved an F-score of 94% on an alignment scenario involving the Adult Mouse Anatomical Dictionary and the Foundational Model of Anatomy ontology (FMA) as targets. This compares favorably with the best performing systems on the Ontology Alignment Evaluation Initiative anatomy challenge. We performed additional experiments on aligning FMA to NCI Thesaurus and to SNOMED CT based on a reference alignment extracted from the UMLS Metathesaurus. Our system obtained overall F-scores of 93.2% and 89.2% for these experiments, thus achieving state-of-the-art results. CONCLUSIONS: Our proposed representation learning approach leverages terminological embeddings to capture semantic similarity. Our results provide evidence that the approach produces embeddings that are especially well tailored to the ontology matching task, demonstrating a novel pathway for the problem.
EAPB: entropy-aware path-based metric for ontology quality.
Shen Y, Chen D, Tang B … +2 more , Yang M, Lei K
J Biomed Semantics · 2018 Aug · PMID 30097014 · Full text
BACKGROUND: Entropy has become increasingly popular in computer science and information theory because it can be used to measure the predictability and redundancy of knowledge bases, especially ontologies. However, curre...
BACKGROUND: Entropy has become increasingly popular in computer science and information theory because it can be used to measure the predictability and redundancy of knowledge bases, especially ontologies. However, current entropy applications that evaluate ontologies consider only single-point connectivity rather than path connectivity, and they assign equal weights to each entity and path. RESULTS: We propose an Entropy-Aware Path-Based (EAPB) metric for ontology quality by considering the path information between different vertices and textual information included in the path to calculate the connectivity path of the whole network and dynamic weights between different nodes. The information obtained from structure-based embedding and text-based embedding is multiplied by the connectivity matrix of the entropy computation. EAPB is analytically evaluated against the state-of-the-art criteria. We have performed empirical analysis on real-world medical ontologies and a synthetic ontology based on the following three aspects: ontology statistical information (data quantity), entropy evaluation (data quality), and a case study (ontology structure and text visualization). These aspects mutually demonstrate the reliability of the proposed metric. The experimental results show that the proposed EAPB can effectively evaluate ontologies, especially those in the medical informatics field. CONCLUSIONS: We leverage path information and textual information to enrich the network representational learning and aid in entropy computation. The analytics and assessments of semantic web can benefit from the structure information but also the text information. We believe that EAPB is helpful for managing ontology development and evaluation projects. Our results are reproducible and we will release the source code and ontology of this work after publication. (Source code and ontology: https://github.com/AnonymousResearcher1/ontologyEvaluate ).
Adverse event detection by integrating twitter data and VAERS.
Wang J, Zhao L, Ye Y … +1 more , Zhang Y
J Biomed Semantics · 2018 Jun · PMID 29925405 · Full text
BACKGROUND: Vaccine has been one of the most successful public health interventions to date. However, vaccines are pharmaceutical products that carry risks so that many adverse events (AEs) are reported after receiving v...
BACKGROUND: Vaccine has been one of the most successful public health interventions to date. However, vaccines are pharmaceutical products that carry risks so that many adverse events (AEs) are reported after receiving vaccines. Traditional adverse event reporting systems suffer from several crucial challenges including poor timeliness. This motivates increasing social media-based detection systems, which demonstrate successful capability to capture timely and prevalent disease information. Despite these advantages, social media-based AE detection suffers from serious challenges such as labor-intensive labeling and class imbalance of the training data. RESULTS: To tackle both challenges from traditional reporting systems and social media, we exploit their complementary strength and develop a combinatorial classification approach by integrating Twitter data and the Vaccine Adverse Event Reporting System (VAERS) information aiming to identify potential AEs after influenza vaccine. Specifically, we combine formal reports which have accurately predefined labels with social media data to reduce the cost of manual labeling; in order to combat the class imbalance problem, a max-rule based multi-instance learning method is proposed to bias positive users. Various experiments were conducted to validate our model compared with other baselines. We observed that (1) multi-instance learning methods outperformed baselines when only Twitter data were used; (2) formal reports helped improve the performance metrics of our multi-instance learning methods consistently while affecting the performance of other baselines negatively; (3) the effect of formal reports was more obvious when the training size was smaller. Case studies show that our model labeled users and tweets accurately. CONCLUSIONS: We have developed a framework to detect vaccine AEs by combining formal reports with social media data. We demonstrate the power of formal reports on the performance improvement of AE detection when the amount of social media data was small. Various experiments and case studies show the effectiveness of our model.
Disease mentions in airport and hospital geolocations expose dominance of news events for disease concerns.
Barros JM, Duggan J, Rebholz-Schuhmann D
J Biomed Semantics · 2018 Jun · PMID 29895320 · Full text
BACKGROUND: In recent years, Twitter has been applied to monitor diseases through its facility to monitor users' comments and concerns in real-time. The analysis of tweets for disease mentions should reflect not only use...
BACKGROUND: In recent years, Twitter has been applied to monitor diseases through its facility to monitor users' comments and concerns in real-time. The analysis of tweets for disease mentions should reflect not only user specific concerns but also disease outbreaks. This requires the use of standard terminological resources and can be focused on selected geographic locations. In our study, we differentiate between hospital and airport locations to better distinguish disease outbreaks from background mentions of disease concerns. RESULTS: Our analysis covers all geolocated tweets over a 6 months time period, uses SNOMED-CT as a standard medical terminology, and explores language patterns (as well as MetaMap) to identify mentions of diseases in reference to the geolocation of tweets. Contrary to our expectation, hospital and airport geolocations are not suitable to collect significant portions of tweets concerned with disease outcomes. Overall, geolocated tweets exposed a large number of messages commenting on disease-related news articles. Furthermore, the geolocated messages exposed an over-representation of non-communicable diseases in contrast to infectious diseases. CONCLUSIONS: Our findings suggest that disease mentions on Twitter not only serve the purpose to share personal statements but also to share concerns about news articles. In particular, our assumption about the relevance of hospital and airport geolocations for an increased frequency of diseases mentions has not been met. To further address the linguistic cues, we propose the study of health forums to understand how a change in medium affects the language applied by the users. Finally, our research on the language use may provide essential clues to distinguish complementary trends in the use of language in Twitter when analysing health-related topics.
Ontology-based literature mining and class effect analysis of adverse drug reactions associated with neuropathy-inducing drugs.
Hur J, Özgür A, He Y
J Biomed Semantics · 2018 Jun · PMID 29880031 · Full text
BACKGROUND: Adverse drug reactions (ADRs), also called as drug adverse events (AEs), are reported in the FDA drug labels; however, it is a big challenge to properly retrieve and analyze the ADRs and their potential relat...
BACKGROUND: Adverse drug reactions (ADRs), also called as drug adverse events (AEs), are reported in the FDA drug labels; however, it is a big challenge to properly retrieve and analyze the ADRs and their potential relationships from textual data. Previously, we identified and ontologically modeled over 240 drugs that can induce peripheral neuropathy through mining public drug-related databases and drug labels. However, the ADR mechanisms of these drugs are still unclear. In this study, we aimed to develop an ontology-based literature mining system to identify ADRs from drug labels and to elucidate potential mechanisms of the neuropathy-inducing drugs (NIDs). RESULTS: We developed and applied an ontology-based SciMiner literature mining strategy to mine ADRs from the drug labels provided in the Text Analysis Conference (TAC) 2017, which included drug labels for 53 neuropathy-inducing drugs (NIDs). We identified an average of 243 ADRs per NID and constructed an ADR-ADR network, which consists of 29 ADR nodes and 149 edges, including only those ADR-ADR pairs found in at least 50% of NIDs. Comparison to the ADR-ADR network of non-NIDs revealed that the ADRs such as pruritus, pyrexia, thrombocytopenia, nervousness, asthenia, acute lymphocytic leukaemia were highly enriched in the NID network. Our ChEBI-based ontology analysis identified three benzimidazole NIDs (i.e., lansoprazole, omeprazole, and pantoprazole), which were associated with 43 ADRs. Based on ontology-based drug class effect definition, the benzimidazole drug group has a drug class effect on all of these 43 ADRs. Many of these 43 ADRs also exist in the enriched NID ADR network. Our Ontology of Adverse Events (OAE) classification further found that these 43 benzimidazole-related ADRs were distributed in many systems, primarily in behavioral and neurological, digestive, skin, and immune systems. CONCLUSIONS: Our study demonstrates that ontology-based literature mining and network analysis can efficiently identify and study specific group of drugs and their associated ADRs. Furthermore, our analysis of drug class effects identified 3 benzimidazole drugs sharing 43 ADRs, leading to new hypothesis generation and possible mechanism understanding of drug-induced peripheral neuropathy.
Querying archetype-based EHRs by search ontology-based XPath engineering.
Kropf S, Uciteli A, Schierle K … +3 more , Krücken P, Denecke K, Herre H
J Biomed Semantics · 2018 May · PMID 29751829 · Full text
BACKGROUND: Legacy data and new structured data can be stored in a standardized format as XML-based EHRs on XML databases. Querying documents on these databases is crucial for answering research questions. Instead of usi...
BACKGROUND: Legacy data and new structured data can be stored in a standardized format as XML-based EHRs on XML databases. Querying documents on these databases is crucial for answering research questions. Instead of using free text searches, that lead to false positive results, the precision can be increased by constraining the search to certain parts of documents. METHODS: A search ontology-based specification of queries on XML documents defines search concepts and relates them to parts in the XML document structure. Such query specification method is practically introduced and evaluated by applying concrete research questions formulated in natural language on a data collection for information retrieval purposes. The search is performed by search ontology-based XPath engineering that reuses ontologies and XML-related W3C standards. RESULTS: The key result is that the specification of research questions can be supported by the usage of search ontology-based XPath engineering. A deeper recognition of entities and a semantic understanding of the content is necessary for a further improvement of precision and recall. Key limitation is that the application of the introduced process requires skills in ontology and software development. In future, the time consuming ontology development could be overcome by implementing a new clinical role: the clinical ontologist. CONCLUSION: The introduced Search Ontology XML extension connects Search Terms to certain parts in XML documents and enables an ontology-based definition of queries. Search ontology-based XPath engineering can support research question answering by the specification of complex XPath expressions without deep syntax knowledge about XPaths.
Extending the DIDEO ontology to include entities from the natural product drug interaction domain of discourse.
Judkins J, Tay-Sontheimer J, Boyce RD … +1 more , Brochhausen M
J Biomed Semantics · 2018 May · PMID 29743102 · Full text
BACKGROUND: Prompted by the frequency of concomitant use of prescription drugs with natural products, and the lack of knowledge regarding the impact of pharmacokinetic-based natural product-drug interactions (PK-NPDIs),...
BACKGROUND: Prompted by the frequency of concomitant use of prescription drugs with natural products, and the lack of knowledge regarding the impact of pharmacokinetic-based natural product-drug interactions (PK-NPDIs), the United States National Center for Complementary and Integrative Health has established a center of excellence for PK-NPDI. The Center is creating a public database to help researchers (primarly pharmacologists and medicinal chemists) to share and access data, results, and methods from PK-NPDI studies. In order to represent the semantics of the data and foster interoperability, we are extending the Drug-Drug Interaction and Evidence Ontology (DIDEO) to include definitions for terms used by the data repository. This is feasible due to a number of similarities between pharmacokinetic drug-drug interactions and PK-NPDIs. METHODS: To achieve this, we set up an iterative domain analysis in the following steps. In Step 1 PK-NPDI domain experts produce a list of terms and definitions based on data from PK-NPDI studies, in Step 2 an ontology expert creates ontologically appropriate classes and definitions from the list along with class axioms, in Step 3 there is an iterative editing process during which the domain experts and the ontology experts review, assess, and amend class labels and definitions and in Step 4 the ontology expert implements the new classes in the DIDEO development branch. This workflow often results in different labels and definitions for the new classes in DIDEO than the domain experts initially provided; the latter are preserved in DIDEO as separate annotations. RESULTS: Step 1 resulted in a list of 344 terms. During Step 2 we found that 9 of these terms already existed in DIDEO, and 6 existed in other OBO Foundry ontologies. These 6 were imported into DIDEO; additional terms from multiple OBO Foundry ontologies were also imported, either to serve as superclasses for new terms in the initial list or to build axioms for these terms. At the time of writing, 7 terms have definitions ready for review (Step 2), 64 are ready for implementation (Step 3) and 112 have been pushed to DIDEO (Step 4). Step 2 also suggested that 26 terms of the original list were redundant and did not need implementation; the domain experts agreed to remove them. Step 4 resulted in many terms being added to DIDEO that help to provide an additional layer of granularity in describing experimental conditions and results, e.g. transfected cultured cells used in metabolism studies and chemical reactions used in measuring enzyme activity. These terms also were integrated into the NaPDI repository. CONCLUSION: We found DIDEO to provide a sound foundation for semantic representation of PK-NPDI terms, and we have shown the novelty of the project in that DIDEO is the only ontology in which NPDI terms are formally defined.
GGDonto ontology as a knowledge-base for genetic diseases and disorders of glycan metabolism and their causative genes.
Solovieva E, Shikanai T, Fujita N … +1 more , Narimatsu H
J Biomed Semantics · 2018 Apr · PMID 29669592 · Full text
BACKGROUND: Inherited mutations in glyco-related genes can affect the biosynthesis and degradation of glycans and result in severe genetic diseases and disorders. The Glyco-Disease Genes Database (GDGDB), which provides...
BACKGROUND: Inherited mutations in glyco-related genes can affect the biosynthesis and degradation of glycans and result in severe genetic diseases and disorders. The Glyco-Disease Genes Database (GDGDB), which provides information about these diseases and disorders as well as their causative genes, has been developed by the Research Center for Medical Glycoscience (RCMG) and released in April 2010. GDGDB currently provides information on about 80 genetic diseases and disorders caused by single-gene mutations in glyco-related genes. Many biomedical resources provide information about genetic disorders and genes involved in their pathogenesis, but resources focused on genetic disorders known to be related to glycan metabolism are lacking. With the aim of providing more comprehensive knowledge on genetic diseases and disorders of glycan biosynthesis and degradation, we enriched the content of the GDGDB database and improved the methods for data representation. RESULTS: We developed the Genetic Glyco-Diseases Ontology (GGDonto) and a RDF/SPARQL-based user interface using Semantic Web technologies. In particular, we represented the GGDonto content using Semantic Web languages, such as RDF, RDFS, SKOS, and OWL, and created an interactive user interface based on SPARQL queries. This user interface provides features to browse the hierarchy of the ontology, view detailed information on diseases and related genes, and find relevant background information. Moreover, it provides the ability to filter and search information by faceted and keyword searches. CONCLUSIONS: Focused on the molecular etiology, pathogenesis, and clinical manifestations of genetic diseases and disorders of glycan metabolism and developed as a knowledge-base for this scientific field, GGDonto provides comprehensive information on various topics, including links to aid the integration with other scientific resources. The availability and accessibility of this knowledge will help users better understand how genetic defects impact the metabolism of glycans as well as how this impaired metabolism affects various biological functions and human health. In this way, GGDonto will be useful in fields related to glycoscience, including cell biology, biotechnology, and biomedical, and pharmaceutical research.
Deep learning meets ontologies: experiments to anchor the cardiovascular disease ontology in the biomedical literature.
Arguello Casteleiro M, Demetriou G, Read W … +7 more , Fernandez Prieto MJ, Maroto N, Maseda Fernandez D, Nenadic G, Klein J, Keane J, Stevens R
J Biomed Semantics · 2018 Apr · PMID 29650041 · Full text
BACKGROUND: Automatic identification of term variants or acceptable alternative free-text terms for gene and protein names from the millions of biomedical publications is a challenging task. Ontologies, such as the Cardi...
BACKGROUND: Automatic identification of term variants or acceptable alternative free-text terms for gene and protein names from the millions of biomedical publications is a challenging task. Ontologies, such as the Cardiovascular Disease Ontology (CVDO), capture domain knowledge in a computational form and can provide context for gene/protein names as written in the literature. This study investigates: 1) if word embeddings from Deep Learning algorithms can provide a list of term variants for a given gene/protein of interest; and 2) if biological knowledge from the CVDO can improve such a list without modifying the word embeddings created. METHODS: We have manually annotated 105 gene/protein names from 25 PubMed titles/abstracts and mapped them to 79 unique UniProtKB entries corresponding to gene and protein classes from the CVDO. Using more than 14 M PubMed articles (titles and available abstracts), word embeddings were generated with CBOW and Skip-gram. We setup two experiments for a synonym detection task, each with four raters, and 3672 pairs of terms (target term and candidate term) from the word embeddings created. For Experiment I, the target terms for 64 UniProtKB entries were those that appear in the titles/abstracts; Experiment II involves 63 UniProtKB entries and the target terms are a combination of terms from PubMed titles/abstracts with terms (i.e. increased context) from the CVDO protein class expressions and labels. RESULTS: In Experiment I, Skip-gram finds term variants (full and/or partial) for 89% of the 64 UniProtKB entries, while CBOW finds term variants for 67%. In Experiment II (with the aid of the CVDO), Skip-gram finds term variants for 95% of the 63 UniProtKB entries, while CBOW finds term variants for 78%. Combining the results of both experiments, Skip-gram finds term variants for 97% of the 79 UniProtKB entries, while CBOW finds term variants for 81%. CONCLUSIONS: This study shows performance improvements for both CBOW and Skip-gram on a gene/protein synonym detection task by adding knowledge formalised in the CVDO and without modifying the word embeddings created. Hence, the CVDO supplies context that is effective in inducing term variability for both CBOW and Skip-gram while reducing ambiguity. Skip-gram outperforms CBOW and finds more pertinent term variants for gene/protein names annotated from the scientific literature.
Clinical Natural Language Processing in languages other than English: opportunities and challenges.
Névéol A, Dalianis H, Velupillai S … +2 more , Savova G, Zweigenbaum P
J Biomed Semantics · 2018 Mar · PMID 29602312 · Full text
BACKGROUND: Natural language processing applied to clinical text or aimed at a clinical outcome has been thriving in recent years. This paper offers the first broad overview of clinical Natural Language Processing (NLP)...
BACKGROUND: Natural language processing applied to clinical text or aimed at a clinical outcome has been thriving in recent years. This paper offers the first broad overview of clinical Natural Language Processing (NLP) for languages other than English. Recent studies are summarized to offer insights and outline opportunities in this area. MAIN BODY: We envision three groups of intended readers: (1) NLP researchers leveraging experience gained in other languages, (2) NLP researchers faced with establishing clinical text processing in a language other than English, and (3) clinical informatics researchers and practitioners looking for resources in their languages in order to apply NLP techniques and tools to clinical practice and/or investigation. We review work in clinical NLP in languages other than English. We classify these studies into three groups: (i) studies describing the development of new NLP systems or components de novo, (ii) studies describing the adaptation of NLP architectures developed for English to another language, and (iii) studies focusing on a particular clinical application. CONCLUSION: We show the advantages and drawbacks of each method, and highlight the appropriate application context. Finally, we identify major challenges and opportunities that will affect the impact of NLP on clinical practice and public health studies in a context that encompasses English as well as other languages.
Matching biomedical ontologies based on formal concept analysis.
Zhao M, Zhang S, Li W … +1 more , Chen G
J Biomed Semantics · 2018 Mar · PMID 29554977 · Full text
BACKGROUND: The goal of ontology matching is to identify correspondences between entities from different yet overlapping ontologies so as to facilitate semantic integration, reuse and interoperability. As a well develope...
BACKGROUND: The goal of ontology matching is to identify correspondences between entities from different yet overlapping ontologies so as to facilitate semantic integration, reuse and interoperability. As a well developed mathematical model for analyzing individuals and structuring concepts, Formal Concept Analysis (FCA) has been applied to ontology matching (OM) tasks since the beginning of OM research, whereas ontological knowledge exploited in FCA-based methods is limited. This motivates the study in this paper, i.e., to empower FCA with as much as ontological knowledge as possible for identifying mappings across ontologies. METHODS: We propose a method based on Formal Concept Analysis to identify and validate mappings across ontologies, including one-to-one mappings, complex mappings and correspondences between object properties. Our method, called FCA-Map, incrementally generates a total of five types of formal contexts and extracts mappings from the lattices derived. First, the token-based formal context describes how class names, labels and synonyms share lexical tokens, leading to lexical mappings (anchors) across ontologies. Second, the relation-based formal context describes how classes are in taxonomic, partonomic and disjoint relationships with the anchors, leading to positive and negative structural evidence for validating the lexical matching. Third, the positive relation-based context can be used to discover structural mappings. Afterwards, the property-based formal context describes how object properties are used in axioms to connect anchor classes across ontologies, leading to property mappings. Last, the restriction-based formal context describes co-occurrence of classes across ontologies in anonymous ancestors of anchors, from which extended structural mappings and complex mappings can be identified. RESULTS: Evaluation on the Anatomy, the Large Biomedical Ontologies, and the Disease and Phenotype track of the 2016 Ontology Alignment Evaluation Initiative campaign demonstrates the effectiveness of FCA-Map and its competitiveness with the top-ranked systems. FCA-Map can achieve a better balance between precision and recall for large-scale domain ontologies through constructing multiple FCA structures, whereas it performs unsatisfactorily for smaller-sized ontologies with less lexical and semantic expressions. CONCLUSIONS: Compared with other FCA-based OM systems, the study in this paper is more comprehensive as an attempt to push the envelope of the Formal Concept Analysis formalism in ontology matching tasks. Five types of formal contexts are constructed incrementally, and their derived concept lattices are used to cluster the commonalities among classes at lexical and structural level, respectively. Experiments on large, real-world domain ontologies show promising results and reveal the power of FCA.
About
- Frequency
- Sun
- Papers found
- 200
- RSS feed
- Subscribe