Tu Tao, Fang Zhouqing, Cheng Zhuanfen, Spasic Svetolik, Palepu Anil, Stankovic Konstantina M, Natarajan Vivek, Peltz Gary
Google Research, Mountain View, CA, USA.
Department of Anesthesiology, Pain and Perioperative Medicine.
bioRxiv. 2023 Nov 12:2023.11.09.566468. doi: 10.1101/2023.11.09.566468.
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.
人工智能(AI)已被应用于医学的许多领域,最近大语言模型(LLMs)在临床应用中显示出潜在效用。然而,由于我们不知道使用大语言模型是否能加快基因发现的速度,我们利用从小鼠遗传模型生成的数据来研究这种可能性。我们研究了最近开发的一种专门的大语言模型(Med-PaLM 2)是否能够分析从生物医学性状小鼠模型分析中生成的候选基因集。针对自由文本输入,Med-PaLM 2正确识别出了包含六个生物医学性状(包括糖尿病易感性和白内障)经实验验证的致病遗传因素的小鼠基因。Med-PaLM 2还能够分析通过小鼠基因组序列数据比较分析确定的具有高影响等位基因的基因列表,并识别出一个导致自发性听力丧失的小鼠遗传因素。基于Med-PaLM 2的这一发现,开发了一种新的自发性听力丧失易感性双基因模型。这些结果表明,Med-PaLM 2可以分析基因-表型关系并生成新的假设,这有助于基因发现。