Phenomics Assistant: An Interface for LLM-based Biomedical Knowledge Graph Exploration

We introduce Phenomics Assistant, a prototype chat-based interface for querying the Monarch knowledge graph (KG), a comprehensive biomedical database. While unaided Large Large Language models (LLMs) are prone to mistakes in factual recall, their strong abilities in summarization and tool use suggest new opportunities to help non-expert users query and interact with complex data, while drawing on the KG to improve reliability of the answers. Leveraging the ability of LLMs to interpret queries in natural language, Phenomics Assistant enables a wide range of users to interactively discover relationships between diseases, genes, and phenotypes. To assess the reliability of our approach and compare the accuracy of different LLMs, we evaluated Phenomics Assistant answers on benchmark tasks for gene-disease association and gene alias queries. While comparisons across tested LLMs revealed differences in their ability to interpret KG-provided information, we found that even basic KG access markedly boosts the reliability of standalone LLMs. By enabling users to pose queries in natural language and summarizing results in familiar terms, Phenomics Assistant represents a new approach for navigating the Monarch KG.