用智能AI挖掘疾病间分子关联,发现隐藏的共病机制。
Discovery of Disease Relationships via Transcriptomic Signature Analysis Powered by Agentic AI
- 构建全自动AI系统分析1300+疾病对的基因表达特征。
- 发现已知共病及跨类别新关联,揭示功能通路共享规律。
- 适合研究疾病机制、药物重定位的生物医学学者使用。
现代疾病分类常忽视表型差异下的分子共性。本研究提出基于转录组的框架,利用完全自动化的智能体AI系统GenoMAS分析超过1300个疾病-状态组合。不仅识别出稳健的基因层面重叠,还开发了一种整合多数据库富集分析的通路相似性框架,量化不同疾病间的功能收敛程度。构建的疾病相似性网络揭示了已知共病关系及此前未记录的跨类别关联。通过分析共享生物学通路,探索这些关联潜在的分子机制,提出超越症状分类的功能假说。研究还发现肥胖、高血压等背景因素会调节转录组相似性,并基于罕见病自闭症谱系障碍与已知疾病在分子上的接近性,发现药物重定位机会。该工作展示了基于生物学原理的智能体AI如何在复杂疾病图景中实现转录组分析的规模化与机制可解释性。所有结果可在github.com/KeeeeChen/Pathway_Similarity_Network公开获取。
原文摘要 · Abstract (English)
Modern disease classification often overlooks molecular commonalities hidden beneath divergent clinical presentations. This study introduces a transcriptomics-driven framework for discovering disease relationships by analyzing over 1300 disease-condition pairs using GenoMAS, a fully automated agentic AI system. Beyond identifying robust gene-level overlaps, we develop a novel pathway-based similarity framework that integrates multi-database enrichment analysis to quantify functional convergence across diseases. The resulting disease similarity network reveals both known comorbidities and previously undocumented cross-category links. By examining shared biological pathways, we explore potential molecular mechanisms underlying these connections-offering functional hypotheses that go beyond symptom-based taxonomies. We further show how background conditions such as obesity and hypertension modulate transcriptomic similarity, and identify therapeutic repurposing opportunities for rare diseases like autism spectrum disorder based on their molecular proximity to better-characterized conditions. In addition, this work demonstrates how biologically grounded agentic AI can scale transcriptomic analysis while enabling mechanistic interpretation across complex disease landscapes. All results are publicly accessible at github.com/KeeeeChen/Pathway_Similarity_Network.
Thank you to arXiv for use of its open access interoperability. PaperDance 不是 arXiv 官方产品;中文卡片由大模型生成,请以原文为准。