Biomedical ontology alignment: An approach based on representation learning

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

Integrating phenotype ontologies across multiple species

Phenotype ontologies are typically constructed to serve the needs of a particular community, such as annotation of genotype-phenotype associations in mouse or human. Here we demonstrate how these ontologies can be improved through assignment of logical definitions using a core ontology of phenotypic qualities and multiple additional ontologies from the Open Biological Ontologies library. We also show how these logical definitions can be used for data integration when combined with a unified multi-species anatomy ontology

Desiderata for domain reference ontologies in biomedicine

AbstractDomain reference ontologies represent knowledge about a particular part of the world in a way that is independent from specific objectives, through a theory of the domain. An example of reference ontology in biomedical informatics is the Foundational Model of Anatomy (FMA), an ontology of anatomy that covers the entire range of macroscopic, microscopic, and subcellular anatomy. The purpose of this paper is to explore how two domain reference ontologies—the FMA and the Chemical Entities of Biological Interest (ChEBI) ontology, can be used (i) to align existing terminologies, (ii) to infer new knowledge in ontologies of more complex entities, and (iii) to manage and help reasoning about individual data. We analyze those kinds of usages of these two domain reference ontologies and suggest desiderata for reference ontologies in biomedicine. While a number of groups and communities have investigated general requirements for ontology design and desiderata for controlled medical vocabularies, we are focusing on application purposes. We suggest five desirable characteristics for reference ontologies: good lexical coverage, good coverage in terms of relations, compatibility with standards, modularity, and ability to represent variation in reality

Infectious Disease Ontology

Technological developments have resulted in tremendous increases in the volume and diversity of the data and information that must be processed in the course of biomedical and clinical research and practice. Researchers are at the same time under ever greater pressure to share data and to take steps to ensure that data resources are interoperable. The use of ontologies to annotate data has proven successful in supporting these goals and in providing new possibilities for the automated processing of data and information. In this chapter, we describe different types of vocabulary resources and emphasize those features of formal ontologies that make them most useful for computational applications. We describe current uses of ontologies and discuss future goals for ontology-based computing, focusing on its use in the field of infectious diseases. We review the largest and most widely used vocabulary resources relevant to the study of infectious diseases and conclude with a description of the Infectious Disease Ontology (IDO) suite of interoperable ontology modules that together cover the entire infectious disease domain

Local matching learning of large scale biomedical ontologies

Les larges ontologies biomédicales décrivent généralement le même domaine d'intérêt, mais en utilisant des modèles de modélisation et des vocabulaires différents. Aligner ces ontologies qui sont complexes et hétérogènes est une tâche fastidieuse. Les systèmes de matching doivent fournir des résultats de haute qualité en tenant compte de la grande taille de ces ressources. Les systèmes de matching d'ontologies doivent résoudre deux problèmes: (i) intégrer la grande taille d'ontologies, (ii) automatiser le processus d'alignement. Le matching d'ontologies est une tâche difficile en raison de la large taille des ontologies. Les systèmes de matching d'ontologies combinent différents types de matcher pour résoudre ces problèmes. Les principaux problèmes de l'alignement de larges ontologies biomédicales sont: l'hétérogénéité conceptuelle, l'espace de recherche élevé et la qualité réduite des alignements résultants. Les systèmes d'alignement d'ontologies combinent différents matchers afin de réduire l'hétérogénéité. Cette combinaison devrait définir le choix des matchers à combiner et le poids. Différents matchers traitent différents types d'hétérogénéité. Par conséquent, le paramétrage d'un matcher devrait être automatisé par les systèmes d'alignement d'ontologies afin d'obtenir une bonne qualité de correspondance. Nous avons proposé une approche appele "local matching learning" pour faire face à la fois à la grande taille des ontologies et au problème de l'automatisation. Nous divisons un gros problème d'alignement en un ensemble de problèmes d'alignement locaux plus petits. Chaque problème d'alignement local est indépendamment aligné par une approche d'apprentissage automatique. Nous réduisons l'énorme espace de recherche en un ensemble de taches de recherche de corresondances locales plus petites. Nous pouvons aligner efficacement chaque tache de recherche de corresondances locale pour obtenir une meilleure qualité de correspondance. Notre approche de partitionnement se base sur une nouvelle stratégie à découpes multiples générant des partitions non volumineuses et non isolées. Par conséquence, nous pouvons surmonter le problème de l'hétérogénéité conceptuelle. Le nouvel algorithme de partitionnement est basé sur le clustering hiérarchique par agglomération (CHA). Cette approche génère un ensemble de tâches de correspondance locale avec un taux de couverture suffisant avec aucune partition isolée. Chaque tâche d'alignement local est automatiquement alignée en se basant sur les techniques d'apprentissage automatique. Un classificateur local aligne une seule tâche d'alignement local. Les classificateurs locaux sont basés sur des features élémentaires et structurelles. L'attribut class de chaque set de donne d'apprentissage " training set" est automatiquement étiqueté à l'aide d'une base de connaissances externe. Nous avons appliqué une technique de sélection de features pour chaque classificateur local afin de sélectionner les matchers appropriés pour chaque tâche d'alignement local. Cette approche réduit la complexité d'alignement et augmente la précision globale par rapport aux méthodes d'apprentissage traditionnelles. Nous avons prouvé que l'approche de partitionnement est meilleure que les approches actuelles en terme de précision, de taux de couverture et d'absence de partitions isolées. Nous avons évalué l'approche d'apprentissage d'alignement local à l'aide de diverses expériences basées sur des jeux de données d'OAEI 2018. Nous avons déduit qu'il est avantageux de diviser une grande tâche d'alignement d'ontologies en un ensemble de tâches d'alignement locaux. L'espace de recherche est réduit, ce qui réduit le nombre de faux négatifs et de faux positifs. L'application de techniques de sélection de caractéristiques à chaque classificateur local augmente la valeur de rappel pour chaque tâche d'alignement local.Although a considerable body of research work has addressed the problem of ontology matching, few studies have tackled the large ontologies used in the biomedical domain. We introduce a fully automated local matching learning approach that breaks down a large ontology matching task into a set of independent local sub-matching tasks. This approach integrates a novel partitioning algorithm as well as a set of matching learning techniques. The partitioning method is based on hierarchical clustering and does not generate isolated partitions. The matching learning approach employs different techniques: (i) local matching tasks are independently and automatically aligned using their local classifiers, which are based on local training sets built from element level and structure level features, (ii) resampling techniques are used to balance each local training set, and (iii) feature selection techniques are used to automatically select the appropriate tuning parameters for each local matching context. Our local matching learning approach generates a set of combined alignments from each local matching task, and experiments show that a multiple local classifier approach outperforms conventional, state-of-the-art approaches: these use a single classifier for the whole ontology matching task. In addition, focusing on context-aware local training sets based on local feature selection and resampling techniques significantly enhances the obtained results

Integration of Neuroimaging and Microarray Datasets through Mapping and Model-Theoretic Semantic Decomposition of Unstructured Phenotypes

An approach towards heterogeneous neuroscience dataset integration is proposed that uses Natural Language Processing (NLP) and a knowledge-based phenotype organizer system (PhenOS) to link ontology-anchored terms to underlying data from each database, and then maps these terms based on a computable model of disease (SNOMED CT®). The approach was implemented using sample datasets from fMRIDC, GEO, The Whole Brain Atlas and Neuronames, and allowed for complex queries such as “List all disorders with a finding site of brain region X, and then find the semantically related references in all participating databases based on the ontological model of the disease or its anatomical and morphological attributes”. Precision of the NLP-derived coding of the unstructured phenotypes in each dataset was 88% (n = 50), and precision of the semantic mapping between these terms across datasets was 98% (n = 100). To our knowledge, this is the first example of the use of both semantic decomposition of disease relationships and hierarchical information found in ontologies to integrate heterogeneous phenotypes across clinical and molecular datasets

Using structural and semantic methodologies to enhance biomedical terminologies

Biomedical terminologies and ontologies underlie various Health Information Systems (HISs), Electronic Health Record (EHR) Systems, Health Information Exchanges (HIEs) and health administrative systems. Moreover, the proliferation of interdisciplinary research efforts in the biomedical field is fueling the need to overcome terminological barriers when integrating knowledge from different fields into a unified research project. Therefore well-developed and well-maintained terminologies are in high demand. Most of the biomedical terminologies are large and complex, which makes it impossible for human experts to manually detect and correct all errors and inconsistencies. Automated and semi-automated Quality Assurance methodologies that focus on areas that are more likely to contain errors and inconsistencies are therefore important. In this dissertation, structural and semantic methodologies are used to enhance biomedical terminologies. The dissertation work is divided into three major parts. The first part consists of structural auditing techniques for the Semantic Network of the Unified Medical Language System (UMLS), which serves as a vocabulary knowledge base for biomedical research in various applications. Research techniques are presented on how to automatically identify and prevent erroneous semantic type assignments to concepts. The Web-based adviseEditor system is introduced to help UMLS editors to make correct multiple semantic type assignments to concepts. It is made available to the National Library of Medicine for future use in maintaining the UMLS. The second part of this dissertation is on how to enhance the conceptual content of SNOMED CT by methods of semantic harmonization. By 2015, SNOMED will become the standard terminology for EH R encoding of diagnoses and problem lists. In order to enrich the semantics and coverage of SNOMED CT for clinical and research applications, the problem of semantic harmonization between SNOMED CT and six reference terminologies is approached by 1) comparing the vertical density of SNOM ED CT with the reference terminologies to find potential concepts for export and import; and 2) categorizing the relationships between structurally congruent concepts from pairs of terminologies, with SNOMED CT being one terminology in the pair. Six kinds of configurations are observed, e.g., alternative classifications, and suggested synonyms. For each configuration, a corresponding solution is presented for enhancing one or both of the terminologies. The third part applies Quality Assurance techniques based on “Abstraction Networks” to biomedical ontologies in BioPortal. The National Center for Biomedical Ontology provides B ioPortal as a repository of over 350 biomedical ontologies covering a wide range of domains. It is extremely difficult to design a new Quality Assurance methodology for each ontology in BioPortal. Fortunately, groups of ontologies in BioPortal share common structural features. Thus, they can be grouped into families based on combinations of these features. A uniform Quality Assurance methodology design for each family will achieve improved efficiency, which is critical with the limited Quality Assurance resources available to most ontology curators. In this dissertation, a family-based framework covering 186 BioPortal ontologies and accompanying Quality Assurance methods based on abstraction networks are presented to tackle this problem