Recently, ontology embeddings representing entities in a low-dimensional space have been proposed for ontology completion. However, the ontology embeddings for concept subsumption prediction do not address the difficulties of similar and isolated entities and fail to extract the global information of annotation axioms from an ontology. In this paper, we propose a self-matching training method for the two ontology embedding models: Inverted-index Matrix Embedding (InME) and Co-occurrence Matrix Embedding (CoME). The two embeddings capture the global and local information in annotation axioms by means of the occurring locations of each word in a set of axioms and the co-occurrences of words in each axiom. The self-matching training method increases the robustness of the concept subsumption prediction when predicted superclasses are similar to subclasses and are isolated to other entities in an ontology. Our evaluation experiments show that the self-matching training method with InME outperforms the existing ontology embeddings for the GO and FoodOn ontologies and that the method with the concatenation of CoME and OWL2Vec* outperforms them for the HeLiS ontology.

Motivation: Ontologies are widely used in biology for data annotation, integration, and analysis. In addition to formally structured axioms, ontologies contain meta-data in the form of annotation axioms which provide valuable pieces of information that characterize ontology classes. Annotations commonly used in ontologies include class labels, descriptions, or synonyms. Despite being a rich source of semantic information, the ontology meta-data are generally unexploited by ontology-based analysis methods such as semantic similarity measures. Results: We propose a novel method, OPA2Vec, to generate vector representations of biological entities in ontologies by combining formal ontology axioms and annotation axioms from the ontology meta-data. We apply a Word2Vec model that has been pre-trained on PubMed abstracts to produce feature vectors from our collected data. We validate our method in two different ways: first, we use the obtained vector representations of proteins as a similarity measure to predict protein-protein interaction (PPI) on two different datasets. Second, we evaluate our method on predicting gene-disease associations based on phenotype similarity by generating vector representations of genes and diseases using a phenotype ontology, and applying the obtained vectors to predict gene-disease associations. These two experiments are just an illustration of the possible applications of our method. OPA2Vec can be used to produce vector representations of any biomedical entity given any type of biomedical ontology. Availability: https://github.com/bio-ontology-research-group/opa2vec Contact: robert.hoehndorf@kaust.edu.sa and xin.gao@kaust.edu.sa.