1,737 research outputs found

    Mapping data elements to terminological resources for integrating biomedical data sources

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

    Interchanging lexical resources on the Semantic Web

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    Lexica and terminology databases play a vital role in many NLP applications, but currently most such resources are published in application-specific formats, or with custom access interfaces, leading to the problem that much of this data is in ‘‘data silos’’ and hence difficult to access. The Semantic Web and in particular the Linked Data initiative provide effective solutions to this problem, as well as possibilities for data reuse by inter-lexicon linking, and incorporation of data categories by dereferencable URIs. The Semantic Web focuses on the use of ontologies to describe semantics on the Web, but currently there is no standard for providing complex lexical information for such ontologies and for describing the relationship between the lexicon and the ontology. We present our model, lemon, which aims to address these gap

    Biomedical ontology alignment: An approach based on representation learning

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    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. 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

    Unification of multi-lingual scientific terminological resources using the ISO 16642 standard. The TermSciences initiative

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    This paper presents the TermSciences portal, which deals with the implementation of a conceptual model that uses the recent ISO 16642 standard (Terminological Markup Framework). This standard turns out to be suitable for concept modeling since it allowed for organizing the original resources by concepts and to associate the various terms for a given concept. Additional structuring is produced by sharing conceptual relationships, that is, cross-linking of resource results through the introduction of semantic relations which may have initially be missing.Comment: 6

    A lexicon for biology and bioinformatics: the BOOTStrep experience

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    This paper describes the design, implementation and population of a lexical resource for biology and bioinformatics (the BioLexicon) developed within an ongoing European project. The aim of this project is text-based knowledge harvesting for support to information extraction and text mining in the biomedical domain. The BioLexicon is a large-scale lexical-terminological resource encoding different information types in one single integrated resource. In the design of the resource we follow the ISO/DIS 24613 ?Lexical Mark-up Framework? standard, which ensures reusability of the information encoded and easy exchange of both data and architecture. The design of the resource also takes into account the needs of our text mining partners who automatically extract syntactic and semantic information from texts and feed it to the lexicon. The present contribution first describes in detail the model of the BioLexicon along its three main layers: morphology, syntax and semantics; then, it briefly describes the database implementation of the model and the population strategy followed within the project, together with an example. The BioLexicon database in fact comes equipped with automatic uploading procedures based on a common exchange XML format, which guarantees that the lexicon can be properly populated with data coming from different sources

    A Simple Standard for Sharing Ontological Mappings (SSSOM).

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    Despite progress in the development of standards for describing and exchanging scientific information, the lack of easy-to-use standards for mapping between different representations of the same or similar objects in different databases poses a major impediment to data integration and interoperability. Mappings often lack the metadata needed to be correctly interpreted and applied. For example, are two terms equivalent or merely related? Are they narrow or broad matches? Or are they associated in some other way? Such relationships between the mapped terms are often not documented, which leads to incorrect assumptions and makes them hard to use in scenarios that require a high degree of precision (such as diagnostics or risk prediction). Furthermore, the lack of descriptions of how mappings were done makes it hard to combine and reconcile mappings, particularly curated and automated ones. We have developed the Simple Standard for Sharing Ontological Mappings (SSSOM) which addresses these problems by: (i) Introducing a machine-readable and extensible vocabulary to describe metadata that makes imprecision, inaccuracy and incompleteness in mappings explicit. (ii) Defining an easy-to-use simple table-based format that can be integrated into existing data science pipelines without the need to parse or query ontologies, and that integrates seamlessly with Linked Data principles. (iii) Implementing open and community-driven collaborative workflows that are designed to evolve the standard continuously to address changing requirements and mapping practices. (iv) Providing reference tools and software libraries for working with the standard. In this paper, we present the SSSOM standard, describe several use cases in detail and survey some of the existing work on standardizing the exchange of mappings, with the goal of making mappings Findable, Accessible, Interoperable and Reusable (FAIR). The SSSOM specification can be found at http://w3id.org/sssom/spec. Database URL: http://w3id.org/sssom/spec

    Dealing with uncertain entities in ontology alignment using rough sets

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    This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ 2012 IEEE. Personal use of this material is permitted. Permission from IEEE must be obtained for all other users, including reprinting/ republishing this material for advertising or promotional purposes, creating new collective works for resale or redistribution to servers or lists, or reuse of any copyrighted components of this work in other works.Ontology alignment facilitates exchange of knowledge among heterogeneous data sources. Many approaches to ontology alignment use multiple similarity measures to map entities between ontologies. However, it remains a key challenge in dealing with uncertain entities for which the employed ontology alignment measures produce conflicting results on similarity of the mapped entities. This paper presents OARS, a rough-set based approach to ontology alignment which achieves a high degree of accuracy in situations where uncertainty arises because of the conflicting results generated by different similarity measures. OARS employs a combinational approach and considers both lexical and structural similarity measures. OARS is extensively evaluated with the benchmark ontologies of the ontology alignment evaluation initiative (OAEI) 2010, and performs best in the aspect of recall in comparison with a number of alignment systems while generating a comparable performance in precision

    Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon.

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    BACKGROUND: Elucidating disease and developmental dysfunction requires understanding variation in phenotype. Single-species model organism anatomy ontologies (ssAOs) have been established to represent this variation. Multi-species anatomy ontologies (msAOs; vertebrate skeletal, vertebrate homologous, teleost, amphibian AOs) have been developed to represent 'natural' phenotypic variation across species. Our aim has been to integrate ssAOs and msAOs for various purposes, including establishing links between phenotypic variation and candidate genes. RESULTS: Previously, msAOs contained a mixture of unique and overlapping content. This hampered integration and coordination due to the need to maintain cross-references or inter-ontology equivalence axioms to the ssAOs, or to perform large-scale obsolescence and modular import. Here we present the unification of anatomy ontologies into Uberon, a single ontology resource that enables interoperability among disparate data and research groups. As a consequence, independent development of TAO, VSAO, AAO, and vHOG has been discontinued. CONCLUSIONS: The newly broadened Uberon ontology is a unified cross-taxon resource for metazoans (animals) that has been substantially expanded to include a broad diversity of vertebrate anatomical structures, permitting reasoning across anatomical variation in extinct and extant taxa. Uberon is a core resource that supports single- and cross-species queries for candidate genes using annotations for phenotypes from the systematics, biodiversity, medical, and model organism communities, while also providing entities for logical definitions in the Cell and Gene Ontologies. THE ONTOLOGY RELEASE FILES ASSOCIATED WITH THE ONTOLOGY MERGE DESCRIBED IN THIS MANUSCRIPT ARE AVAILABLE AT: http://purl.obolibrary.org/obo/uberon/releases/2013-02-21/ CURRENT ONTOLOGY RELEASE FILES ARE AVAILABLE ALWAYS AVAILABLE AT: http://purl.obolibrary.org/obo/uberon/releases
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