Genetic Discovery Enabled by A Large Language Model

Author:

Tu Tao,Fang Zhouqing,Cheng Zhuanfen,Spasic Svetolik,Palepu Anil,Stankovic Konstantina M.ORCID,Natarajan Vivek,Peltz GaryORCID

Abstract

Artificial intelligence (AI) has been used in many areas of medicine, and recently large language models (LLMs) have shown potential utility for clinical applications. However, since we do not know if the use of LLMs can accelerate the pace of genetic discovery, we used data generated from mouse genetic models to investigate this possibility. We examined whether a recently developed specialized LLM (Med-PaLM 2) could analyze sets of candidate genes generated from analysis of murine models of biomedical traits. In response to free-text input, Med-PaLM 2 correctly identified the murine genes that contained experimentally verified causative genetic factors for six biomedical traits, which included susceptibility to diabetes and cataracts. Med-PaLM 2 was also able to analyze a list of genes with high impact alleles, which were identified by comparative analysis of murine genomic sequence data, and it identified a causative murine genetic factor for spontaneous hearing loss. Based upon this Med-PaLM 2 finding, a novel bigenic model for susceptibility to spontaneous hearing loss was developed. These results demonstrate Med-PaLM 2 can analyze gene-phenotype relationships and generate novel hypotheses, which can facilitate genetic discovery.

Publisher

Cold Spring Harbor Laboratory

Reference54 articles.

1. An automated multi-modal graph-based pipeline for mouse genetic discovery;Bioinformatics,2022

2. Vaswani, A. , Shazeer, N. , Parmar, N. , Uszkoreit, J. , Jones, L. , Gomez, A. N. , Kaiser, Ł. & Polosukhin, I. Attention is all you need. Advances in neural information processing systems 30 (2017).

3. Chowdhery, A. , Narang, S. , Devlin, J. , Bosma, M. , Mishra, G. , Roberts, A. , Barham, P. , Chung, H. W. , Sutton, C. , Gehrmann, S. , et al. Palm: Scaling language modeling with pathways. arXiv preprint arXiv:2204.02311 (2022).

4. Large language models encode clinical knowledge;Nature,2023

5. Singhal, K. , Tu, T. , Gottweis, J. , Sayres, R. , Wulczyn, E. , Hou, L. , Clark, K. , Pfohl, S. , Cole-Lewis, H. , Neal, D. , et al. Towards expert-level medical question answering with large language models. arXiv preprint arXiv:2305.09617 (2023).

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