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

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

Matching Biomedical Knowledge Graphs with Neural Embeddings

Tese de mestrado, Ciência de Dados, Universidade de Lisboa, Faculdade de Ciências, 2020Os grafos de conhecimento são estruturas que se tornaram fundamentais para a organização dos dados biomédicos que têm sido produzidos a um ritmo exponencial nos últimos anos. A abrangente adoção desta forma de estruturar e descrever dados levou ao desenvolvimento de abordagens de prospeção de dados que tirassem partido desta informação com o intuito de auxiliar o progresso do conhecimento científico. Porém, devido à impossibilidade de isolamento de domínios de conhecimento e à idiossincrasia humana, grafos de conhecimento construídos por diferentes indivíduos contêm muitas vezes conceitos equivalentes descritos de forma diferente, dificultando uma análise integrada de dados de diferentes grafos de conhecimento. Vários sistemas de alinhamento de grafos de conhecimento têm focado a resolução deste desafio. Contudo, o desempenho destes sistemas no alinhamento de grafos de conhecimento biomédicos estagnou nos últimos quatro anos com algoritmos e recursos externos bastante trabalhados para aprimorar os resultados. Nesta dissertação, apresentamos duas novas abordagens de alinhamento de grafos de conhecimento empregando Neural Embeddings: uma utilizando semelhança simples entre embeddings à base de palavras e de entidades de grafos; outra treinando um modelo mais complexo que refinasse a informação proveniente de embeddings baseados em palavras. A metodologia proposta visa integrar estas abordagens no processo regular de alinhamento, utilizando como infraestrutura o sistema AgreementMakerLight. Estas novas componentes permitem extender os algoritmos de alinhamento do sistema, descobrindo novos mapeamentos, e criar uma abordagem de alinhamento mais generalizável e menos dependente de ontologias biomédicas externas. Esta nova metodologia foi avaliada em três casos de teste de alinhamento de ontologias biomédicas, provenientes da Ontology Alignment Evaluation Initiative. Os resultados demonstraram que apesar de ambas as abordagens não excederem o estado da arte, estas obtiveram um desempenho benéfico nas tarefas de alinhamento, superando a performance de todos os sistemas que não usam ontologias externas e inclusive alguns que tiram proveito das mesmas, o que demonstra o valor das técnicas de Neural Embeddings na tarefa de alinhamento de grafos do conhecimento biomédicos.Knowledge graphs are data structures which became essential to organize biomedical data produced at an exponential rate in the last few years. The broad adoption of this method of structuring and describing data resulted in the increased interest to develop data mining approaches which took advantage of these information structures in order to improve scientific knowledge. However, due to human idiosyncrasy and also the impossibility to isolate knowledge domains in separate pieces, knowledge graphs constructed by different individuals often contain equivalent concepts described differently. This obstructs the path to an integrated analysis of data described by multiple knowledge graphs. Multiple knowledge graph matching systems have been developed to address this challenge. Nevertheless, the performance of these systems has stagnated in the last four years, despite the fact that they were provided with highly tailored algorithms and external resources to tackle this task. In this dissertation, we present two novel knowledge graph matching approaches employing neural embeddings: one using plain embedding similarity based on word and graph models; the other one using a more complex word-based model which requires training data to refine embeddings. The proposed methodology aims to integrate these approaches in the regular matching process, using the AgreementMakerLight system as a foundation. These new components enable the extension of the system’s current matching algorithms, discovering new mappings, and developing a more generalizable and less dependent on external biomedical ontologies matching procedure. This new methodology was evaluated on three biomedical ontology matching test cases provided by the Ontology Alignment Evaluation Initiative. The results showed that despite both embedding approaches don’t exceed state of the art results, they still produce better results than any other matching systems which do not make use of external ontologies and also surpass some that do benefit from them. This shows that Neural Embeddings are a valuable technique to tackle the challenge of biomedical knowledge graph matching

Results of the ontology alignment evaluation initiative 2017

Ontology matching consists of finding correspondences between semantically related entities of different ontologies. The Ontology Alignment Evaluation Initiative (OAEI) aims at comparing ontology matching systems on precisely defined test cases. These test cases can be based on ontologies of different levels of complexity (from simple thesauri to expressive OWL ontologies) and use different evaluation modalities (e.g., blind evaluation, open evaluation, or consensus). The OAEI 2017 campaign offered 9 tracks with 23 test cases, and was attended by 21 participants. This paper is an overall presentation of that campaign

Applications of the ACGT Master Ontology on Cancer

In this paper we present applications of the ACGT Master Ontology (MO) which is a new terminology resource for a transnational network providing data exchange in oncology, emphasizing the integration of both clinical and molecular data. The development of a new ontology was necessary due to problems with existing biomedical ontologies in oncology. The ACGT MO is a test case for the application of best practices in ontology development. This paper provides an overview of the application of the ontology within the ACGT project thus far

Investigating semantic similarity for biomedical ontology alignment

Tese de mestrado, Bioinformática e Biologia Computacional (Bioinformática) Universidade de Lisboa, Faculdade de Ciências, 2017A heterogeneidade dos dados biomédicos e o crescimento exponencial da informação dentro desse domínio tem levado à utilização de ontologias, que codificam o conhecimento de forma computacionalmente tratável. O desenvolvimento de uma ontologia decorre, em geral, com base nos requisitos da equipa que a desenvolve, podendo levar à criação de ontologias diferentes e potencialmente incompatíveis por várias equipas de investigação. Isto implica que as várias ontologias existentes para codificar conhecimento biomédico possam, entre elas, sofrer de heterogeneidade: mesmo quando o domínio por elas codificado é idêntico, os conceitos podem ser representados de formas diferentes, com diferente especificidade e/ou granularidade. Para minimizar estas diferenças e criar representações mais standard e aceites pela comunidade, foram desenvolvidos algoritmos (matchers) que encontrassem pontes de conhecimento (mappings) entre as ontologias de forma a alinharem-nas. O tipo de algoritmos mais utilizados no Alinhamento de Ontologias (AO) são os que utilizam a informação léxica (isto é, os nomes, sinónimos e descrições dos conceitos) para calcular as semelhanças entre os conceitos a serem mapeados. Uma abordagem complementar a esses algoritmos é a utilização de Background Knowledge (BK) como forma de aumentar o número de sinónimos usados e assim aumentar a cobertura do alinhamento produzido. Uma alternativa aos algoritmos léxicos são os algoritmos estruturais que partem do pressuposto que as ontologias foram desenvolvidas com pontos de vista semelhantes – realidade pouco comum. Surge então o tema desta dissertação onde toma-se partido da Semelhança Semântica (SS) para o desenvolvimento de novos algoritmos de AO. É de salientar que até ao momento a utilização de SS no Alinhamento de Ontologias é cingida à verificação de mappings e não à sua procura. Esta dissertação apresenta o desenvolvimento, implementação e avaliação de dois algoritmos que utilizam SS, ambos usados como forma de estender alinhamentos produzidos previamente, um para encontrar mappings de equivalências e o outro de subsunção (onde um conceito de uma ontologia é mapeado como sendo descendente do conceito proveniente de outra ontologia). Os algoritmos propostos foram implementados no AML que é um sistema topo de gama em Alinhamento de Ontologias. O algoritmo de equivalência demonstrou uma melhoria de até 0.2% em termos de F-measure em comparação com o alinhamento âncora utilizado; e um aumento de até 11.3% quando comparado a outro sistema topo de gama (LogMapLt) que não utiliza BK. É importante referir que, dentro do espaço de procura do algoritmo o Recall variou entre 66.7% e 100%. Já o algoritmo de subsunção apresentou precisão entre 75.9% e 95% (avaliado manualmente).The heterogeneity of biomedical data and the exponential growth of the information within this domain has led to the usage of ontologies, which encode knowledge in a computationally tractable way. Usually, the ontology’s development is based on the requirements of the research team, which means that ontologies of the same domain can be different and potentially incompatible among several research teams. This fact implies that the various existing ontologies encoding biomedical knowledge can, among them, suffer from heterogeneity: even when the encoded domain is identical, the concepts may be represented in different ways, with different specificity and/or granularity. To minimize these differences and to create representations that are more standard and accepted by the community, algorithms (known as matchers) were developed to search for bridges of knowledge (known as mappings) between the ontologies, in order to align them. The most commonly used type of matchers in Ontology Matching (OM) are the ones taking advantage of the lexical information (names, synonyms and textual description of the concepts) to calculate the similarities between the concepts to be mapped. A complementary approach to those algorithms is the usage of Background Knowledge (BK) as a way to increase the number of synonyms used, and further increase of the coverage of the produced alignment. An alternative to lexical algorithms are the structural ones which assume that the ontologies were developed with similar points of view - an unusual reality. The theme of this dissertation is to take advantage of Semantic Similarity (SS) for the development of new OM algorithms. It is important to emphasize that the use of SS in Ontology Alignment has, until now, been limited to the verification of mappings and not to its search. This dissertation presents the development, implementation, and evaluation of two algorithms that use SS. Both algorithms were used to extend previously produced alignments, one to search for equivalence and the other for subsumption mappings (where a concept of an ontology is mapped as descendant from a concept from another ontology). The proposed algorithms were implemented in AML, which is a top performing system in Ontology Matching. The equivalence algorithm showed an improvement in F-measure up to 0.2% when compared to the anchor alignment; and an increase of up to 11.3% when compared to another high-end system (LogMapLt) which lacks the usage of BK. It is important to note that, within the search space of the algorithm, the Recall ranged from 66.7% to 100%. On the other hand, the subsumption algorithm presented an accuracy between 75.9% and 95% (manually evaluated)

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

Machine Learning-Friendly Biomedical Datasets for Equivalence and Subsumption Ontology Matching

Ontology Matching (OM) plays an important role in many domains such as bioinformatics and the Semantic Web, and its research is becoming increasingly popular, especially with the application of machine learning (ML) techniques. Although the Ontology Alignment Evaluation Initiative (OAEI) represents an impressive effort for the systematic evaluation of OM systems, it still suffers from several limitations including limited evaluation of subsumption mappings, suboptimal reference mappings, and limited support for the evaluation of ML-based systems. To tackle these limitations, we introduce five new biomedical OM tasks involving ontologies extracted from Mondo and UMLS. Each task includes both equivalence and subsumption matching; the quality of reference mappings is ensured by human curation, ontology pruning, etc.; and a comprehensive evaluation framework is proposed to measure OM performance from various perspectives for both ML-based and non-ML-based OM systems. We report evaluation results for OM systems of different types to demonstrate the usage of these resources, all of which are publicly available as part of the new BioML track at OAEI 2022.Comment: Accepted paper in the 21st International Semantic Web Conference (ISWC-2022); DOI for Bio-ML Dataset: 10.5281/zenodo.651008