Onto2Vec: joint vector-based representation of biological entities and their ontology-based annotations

Motivation: Biological knowledge is widely represented in the form of ontology-based annotations: ontologies describe the phenomena assumed to exist within a domain, and the annotations associate a (kind of) biological entity with a set of phenomena within the domain. The structure and information contained in ontologies and their annotations makes them valuable for developing machine learning, data analysis and knowledge extraction algorithms; notably, semantic similarity is widely used to identify relations between biological entities, and ontology-based annotations are frequently used as features in machine learning applications. Results: We propose the Onto2Vec method, an approach to learn feature vectors for biological entities based on their annotations to biomedical ontologies. Our method can be applied to a wide range of bioinformatics research problems such as similarity-based prediction of interactions between proteins, classification of interaction types using supervised learning, or clustering. To evaluate Onto2Vec, we use the Gene Ontology (GO) and jointly produce dense vector representations of proteins, the GO classes to which they are annotated, and the axioms in GO that constrain these classes.