arXiv:2608.08430cs.HCcs.AI2026-08

让专家参与修正基因因果图,提升虚拟细胞的可解释性

Human-Guided Causal Knowledge Injection for Virtual Cells

论文配图:Human-Guided Causal Knowledge Injection for Virtual Cells
图 1 · 摘自论文原文
  • 用可视化工具辅助专家发现基因相似性与因果关系
  • 通过反事实分析验证并优化因果图,减少自动构建错误
  • 适合生物医学研究者用于挖掘真实科学洞察

虚拟细胞利用机器学习模型模拟和预测细胞行为,是研究健康与疾病的关键计算框架。将因果图注入虚拟细胞可增强可解释性,但现实中因果图通常不可得。现有方法从数据中自动构建因果图,通过基因相似性聚类形成概念并提取因果关系,但由于无监督,常含错误。本文提出一种人类引导的因果知识注入方法,开发了基于基因相似性的因果图可视化系统,结合混合优化算法,帮助探索概念间的因果关系与基因间的相似性。在此基础上,设计反事实分析策略,配合反事实与因果路径可视化,辅助验证和修正因果图。在两个真实案例中验证了方法有效性,成功提取出具有科学意义的因果洞见,并获得领域专家积极反馈。

原文摘要 · Abstract (English)

Virtual cells employ machine learning models to simulate and predict cellular behaviors, serving as a critical computational framework for investigating health and disease. Injecting causal graphs into virtual cells can improve the interpretability, but such graphs are usually not available in real-world applications. Recently, many methods have been proposed to construct causal graphs from data, which group genes based on their similarities to form concepts and extract their causal relationships. However, since this automatic process is unsupervised, the causal graphs usually contain errors. In this paper, we propose a human-guided causal knowledge injection method for virtual cells. We developed a gene-similarity-aware causal graph visualization supported by a hybrid optimization algorithm to help explore both the causal relationships between concepts and the similarities between genes. Based on the exploration, we further developed a counterfactual analysis strategy supported by a counterfactual visualization and a causal path visualization to help validate and refine causal graphs. The effectiveness of our method is demonstrated through two real-world case studies, the extraction of scientifically meaningful causal insights, and positive feedback from domain experts.

虚拟细胞因果推断生物信息

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