Abstract

Much of biomedical and healthcare data is encoded in discrete, symbolic form such as text and medical codes. There is a wealth of expert-curated biomedical domain knowledge stored in knowledge bases and ontologies, but the lack of reliable methods for learning knowledge representation has limited their usefulness in machine learning applications. While text-based representation learning has significantly improved in recent years through advances in natural language processing, attempts to learn biomedical concept embeddings so far have been lacking. A recent family of models called knowledge graph embeddings have shown promising results on general domain knowledge graphs, and we explore their capabilities in the biomedical domain. We train several state-of-the-art knowledge graph embedding models on the SNOMED-CT knowledge graph, provide a benchmark with comparison to existing methods and in-depth discussion on best practices, and make a case for the importance of leveraging the multi-relational nature of knowledge graphs for learning biomedical knowledge representation. The embeddings, code, and materials will be made available to the community.

Highlights

  • A vast amount of biomedical domain knowledge is stored in knowledge bases and ontologies

  • Given that SNOMED-CT is larger and arguably a more complex knowledge graph than the two datasets, the link prediction results suggest that the knowledge graph embedding (KGE) models learn a reasonable representation of SNOMED-CT

  • In accordance with the visualizations of semantic clusters (Figures 1 and 2), the KGE and network embedding (NE) methods perform significantly better than the corpus-based method (Cui2Vec)

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Summary

Introduction

A vast amount of biomedical domain knowledge is stored in knowledge bases and ontologies. SNOMED Clinical Terms (SNOMED-CT) is the most widely used clinical terminology in the world for documentation and reporting in healthcare, containing hundreds of thousands of medical terms and their relations, organized in a polyhierarchical structure. 1https://github.com/dchang56/snomed kge 2https://www.nlm.nih.gov/healthit/snomedct hundred terminologies under the Unified Medical Language System (UMLS) (Bodenreider, 2004), which provides a metathesaurus that combines millions of biomedical concepts and relations under a common ontological framework. The unique identifiers assigned to the concepts as well as the Resource Release Format (RRF) standard enable interoperability and reliable access to information. The UMLS and the terminologies it encompasses are a crucial resource for biomedical and healthcare research

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