In plain words: Chatbots were asked to name the shared function of a gene list, backed by reasoning and a confidence score. The best one often matched curated labels, stayed unsure on random lists, and found new functions in 32% of gene sets that standard enrichment missed.
Abstract
Gene set analysis is a mainstay of functional genomics, but it relies on curated databases of gene functions that are incomplete. Here we evaluate five Large Language Models (LLMs) for their ability to discover the common biological functions represented by a gene set, substantiated by supporting rationale, citations and a confidence assessment. Benchmarking against canonical gene sets from the Gene Ontology, GPT-4 confidently recovered the curated name or a more general concept (73% of cases), while benchmarking against random gene sets correctly yielded zero confidence. Gemini-Pro and Mixtral-Instruct showed ability in naming but were falsely confident for random sets, whereas Llama2-70b had poor performance overall. In gene sets derived from 'omics data, GPT-4 identified novel functions not reported by classical functional enrichment (32% of cases), which independent review indicated were largely verifiable and not hallucinations. The ability to rapidly synthesize common gene functions positions LLMs as valuable 'omics assistants.
Mengzhou Hu, Sahar Alkhairy, Ingoo Lee, Rudolf T. Pillich, Dylan Fong, Kevin Smith, Robin Bachelder, Trey Ideker, Dexter Pratt
arXiv:2309.04019 · q-bio.GN, cs.AI, cs.CL, q-bio.MN · submitted Sep 7, 2023 · updated Apr 1, 2024
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