Dividing the Ontology Alignment Task with Semantic Embeddings and Logic-based Modules

Large ontologies still pose serious challenges to state-of-the-art ontology alignment systems. In this paper we present an approach that combines a neural embedding model and logic-based modules to accurately divide an input ontology matching task into smaller and more tractable matching (sub)tasks. We have conducted a comprehensive evaluation using the datasets of the Ontology Alignment Evaluation Initiative. The results are encouraging and suggest that the proposed method is adequate in practice and can be integrated within the workflow of systems unable to cope with very large ontologies

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

Predicting Gene-Disease Associations with Knowledge Graph Embeddings over Multiple Ontologies

Tese de mestrado, Bioinformática e Biologia Computacional, Universidade de Lisboa, Faculdade de Ciências, 2021There are still more than 1,400 Mendelian conditions whose molecular cause is un known. In addition, almost all medical conditions are somehow influenced by human genetic variation. This challenge also presents itself as an opportunity to understand the mechanisms of diseases, thus allowing the development of better mitigation strategies, finding diagnostic markers and therapeutic targets. Deciphering the link between genes and diseases is one of the most demanding tasks in biomedical research. Computational approaches for gene-disease associations prediction can greatly accelerate this process, and recent developments that explore the scientific knowledge described in ontologies have achieved good results. State-of-the-art approaches that take advantage of ontologies or knowledge graphs for these predictions are typically based on semantic similarity measures that only take into consideration hierarchical relations. New developments in the area of knowledge graphs embeddings support more powerful representations but are usually limited to a single ontology, which may be insufficient in multi-domain applications such as the prediction of gene-disease associations. This dissertation proposes a novel approach of gene-disease associations prediction by exploring both the Human Phenotype Ontology and the Gene Ontology, using knowledge graph embeddings to represent gene and disease features in a shared semantic space that covers both gene function and phenotypes. Our approach integrates different methods for building the shared semantic space, as well as multiple knowledge graph embeddings algorithms and machine learning methods. The prediction performance was evaluated on curated gene-disease associations from DisGeNET and compared to classical semantic similarity measures. Our experiments demonstrate the value of employing knowledge graph embeddings based on random walks and highlight the need for closer integration of different ontologies

Contextualized Structural Self-supervised Learning for Ontology Matching

Ontology matching (OM) entails the identification of semantic relationships between concepts within two or more knowledge graphs (KGs) and serves as a critical step in integrating KGs from various sources. Recent advancements in deep OM models have harnessed the power of transformer-based language models and the advantages of knowledge graph embedding. Nevertheless, these OM models still face persistent challenges, such as a lack of reference alignments, runtime latency, and unexplored different graph structures within an end-to-end framework. In this study, we introduce a novel self-supervised learning OM framework with input ontologies, called LaKERMap. This framework capitalizes on the contextual and structural information of concepts by integrating implicit knowledge into transformers. Specifically, we aim to capture multiple structural contexts, encompassing both local and global interactions, by employing distinct training objectives. To assess our methods, we utilize the Bio-ML datasets and tasks. The findings from our innovative approach reveal that LaKERMap surpasses state-of-the-art systems in terms of alignment quality and inference time. Our models and codes are available here: https://github.com/ellenzhuwang/lakermap

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

Classifying Relations using Recurrent Neural Network with Ontological-Concept Embedding

Relation extraction and classification represents a fundamental and challenging aspect of Natural Language Processing (NLP) research which depends on other tasks such as entity detection and word sense disambiguation. Traditional relation extraction methods based on pattern-matching using regular expressions grammars and lexico-syntactic pattern rules suffer from several drawbacks including the labor involved in handcrafting and maintaining large number of rules that are difficult to reuse. Current research has focused on using Neural Networks to help improve the accuracy of relation extraction tasks using a specific type of Recurrent Neural Network (RNN). A promising approach for relation classification uses an RNN that incorporates an ontology-based concept embedding layer in addition to word embeddings. This dissertation presents several improvements to this approach by addressing its main limitations. First, several different types of semantic relationships between concepts are incorporated into the model; prior work has only considered is-a hierarchical relationships. Secondly, a significantly larger vocabulary of concepts is used. Thirdly, an improved method for concept matching was devised. The results of adding these improvements to two state-of-the-art baseline models demonstrated an improvement to accuracy when evaluated on benchmark data used in prior studies

Reveal the Unknown: Out-of-Knowledge-Base Mention Discovery with Entity Linking

Discovering entity mentions that are out of a Knowledge Base (KB) from texts plays a critical role in KB maintenance, but has not yet been fully explored. The current methods are mostly limited to the simple threshold-based approach and feature-based classification; the datasets for evaluation are relatively rare. In this work, we propose BLINKout, a new BERT-based Entity Linking (EL) method which can identify mentions that do not have a corresponding KB entity by matching them to a special NIL entity. To this end, we integrate novel techniques including NIL representation, NIL classification, and synonym enhancement. We also propose Ontology Pruning and Versioning strategies to construct out-of-KB mentions from normal, in-KB EL datasets. Results on four datasets of clinical notes and publications show that BLINKout outperforms existing methods to detect out-of-KB mentions for medical ontologies UMLS and SNOMED CT