PO.BCS02.01 · 生物信息与计算

GenerAItive:一款用于解读癌症中基因表达分析的AI系统

GenerAItive: An AI system for interpretation of gene expression analyses in cancer

海报缩略图:GenerAItive:一款用于解读癌症中基因表达分析的AI系统
编号 19 展板 4 时间 4/19 02:00–05:00 区域 Section 2 主讲 Muiz Khan
分会场 Agentic AI in Cancer
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作者与单位 Authors & Affiliations

Muiz Khan, Alan Carbajo, Sorin Draghici

Computer Science, Wayne State University, Detroit, MI

摘要 Abstract

中文摘要
高通量癌症研究正日益产生规模庞大且复杂的转录组数据集,推动了系统生物学方法在医学研究中的应用。由于转录组学分析可产生数千个差异表达基因(DEGs)、富集的基因集、通路和相关调控因子,因此确定重要生物学过程的驱动因素往往耗时且具有挑战性。为解决这一问题,我们开发了 GenerAItive,一款基于智能体的人工智能(AI),用于解读来自 iPathwayGuide 的基因表达分析,iPathwayGuide 是一个广泛使用的生物信息学平台,可揭示具有统计学显著性的下游基因集、通路、疾病和上游调控因子。我们的系统检索 iPathwayGuide 的输出数据,并使用任务特异性推理智能体迭代分析每一个结果层——包括顶级DEGs、富集基因集(MSigDB、Gene Ontology)、受影响通路(KEGG)、预测的上游调控因子(基因、miRNA、化学物质)以及相关疾病。这些AI智能体能够研究和解读在生物学背景下最相关的结果,从文献和通路分析中检索支持性证据,并通过大语言模型推理将其综合起来,从而对基因表达变化如何影响癌症相关过程给出清晰的机制解释。在测试中,我们的系统对通路激活、预测的调控因子和下游效应产生了准确的、有文献支持的解读。它还在未事先接触相关研究的情况下重现了癌症数据集中已确立的发现。这些结果表明,生成式AI能够辅助转录组数据的解读,减少被忽视的关联,并帮助研究人员更快地理解复杂的生物学信号。
查看英文原文 English abstract
High-throughput cancer studies are increasingly generating transcriptomic datasets of substantial size and complexity, prompting the adoption of systems biology approaches in medical research. Because transcriptomics analyses can yield thousands of differentially expressed genes (DEGs), enriched gene-sets, pathways, and associated regulators, pinpointing drivers of important biological processes is often time-consuming and challenging. To address this, we developed GenerAItive, an agent-based artificial intelligence (AI) that interprets gene expression analyses from iPathwayGuide, a widely used bioinformatics platform that reveals statistically significant downstream gene-sets, pathways, diseases, and upstream regulators. Our system retrieves iPathwayGuide output data and iteratively analyzes each result layer-including top DEGs, enriched gene sets (MSigDB, Gene Ontology), impacted pathways (KEGG), predicted upstream regulators (genes, miRNAs, chemicals), and associated diseases-using task-specific reasoning agents. These AI agents can investigate and interpret results that are most relevant in biological context, retrieving supporting evidence from literature and pathway analyses, and synthesizing them through large-language model reasoning to produce clear mechanistic explanations of how gene expression changes affect cancer-related processes. In testing, our system produced accurate, literature-supported interpretations of pathway activation, predicted regulators, and downstream effects. It also reproduced established findings in cancer datasets without prior exposure to those studies. These results suggest that generative AI can aid in interpretation of transcriptomic data, reduce overlooked relationships, and help researchers understand complex biological signals more quickly.
利益披露 Disclosure
M. Khan, None.. A. Carbajo, None.. S. Draghici, None.

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