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)

Tackling the challenges of matching biomedical ontologies

Abstract Background Biomedical ontologies pose several challenges to ontology matching due both to the complexity of the biomedical domain and to the characteristics of the ontologies themselves. The biomedical tracks in the Ontology Matching Evaluation Initiative (OAEI) have spurred the development of matching systems able to tackle these challenges, and benchmarked their general performance. In this study, we dissect the strategies employed by matching systems to tackle the challenges of matching biomedical ontologies and gauge the impact of the challenges themselves on matching performance, using the AgreementMakerLight (AML) system as the platform for this study. Results We demonstrate that the linear complexity of the hash-based searching strategy implemented by most state-of-the-art ontology matching systems is essential for matching large biomedical ontologies efficiently. We show that accounting for all lexical annotations (e.g., labels and synonyms) in biomedical ontologies leads to a substantial improvement in F-measure over using only the primary name, and that accounting for the reliability of different types of annotations generally also leads to a marked improvement. Finally, we show that cross-references are a reliable source of information and that, when using biomedical ontologies as background knowledge, it is generally more reliable to use them as mediators than to perform lexical expansion. Conclusions We anticipate that translating traditional matching algorithms to the hash-based searching paradigm will be a critical direction for the future development of the field. Improving the evaluation carried out in the biomedical tracks of the OAEI will also be important, as without proper reference alignments there is only so much that can be ascertained about matching systems or strategies. Nevertheless, it is clear that, to tackle the various challenges posed by biomedical ontologies, ontology matching systems must be able to efficiently combine multiple strategies into a mature matching approach

Additional file 1 of Tackling the challenges of matching biomedical ontologies

Manual evaluation of the HP-MP mappings found through logical definitions Tab-separated text file listing each mapping (URI and label of the source and target classes) and its classification. (TSV 13 kb