Benchmarking large language models for genomic knowledge with GeneTuring.

Abstract

Large language models (LLMs) show promise in biomedical research, but their effectiveness for genomic inquiry remains unclear. We developed GeneTuring, a benchmark consisting of 16 genomics tasks with 1600 curated questions, and manually evaluated 48 000 answers from 10 LLM configurations, including GPT-4o (via API, ChatGPT with web access, and a custom Generative Pretrained Transformer (GPT) setup), GPT-3.5, Claude 3.5, Gemini Advanced, GeneGPT (both slim and full), BioGPT, and BioMedLM. A custom GPT-4o configuration integrated with National Center for Biotechnology Information (NCBI) Application Programming Interfaces (APIs), developed in this study as SeqSnap, achieved the best overall performance. GPT-4o with web access and GeneGPT demonstrated complementary strengths. Our findings highlight both the promise and current limitations of LLMs in genomics, and emphasize the value of combining LLMs with domain-specific tools for robust genomic intelligence. GeneTuring offers a key resource for benchmarking and improving LLMs in biomedical research.