arXiv:2507.09028q-bio.QMcs.AI2025-07综述被引 30

系统梳理从传统机器学习到大模型的多模态癌症研究整合方法

From Classical Machine Learning to Emerging Foundation Models: Review on Multimodal Data Integration for Cancer Research

  • 对比分析传统机器学习与基础模型在多模态数据融合中的方法演进
  • 总结当前最先进的多组学与影像数据整合技术及公开资源
  • 为构建下一代癌症智能分析大模型提供理论框架与实践指引

癌症研究正日益依赖基因组、蛋白组、影像和临床数据等多模态数据的整合。然而,从这些异构大数据中提取可行动洞察仍是关键挑战。基础模型(Foundation Models, FMs)——即在大规模数据上预训练的深度学习模型,可作为多种下游任务的通用骨干——为发现生物标志物、改善诊断和个性化治疗提供了新路径。本文全面回顾了广泛采用的多模态数据整合策略,助力推动肿瘤学中数据驱动型发现的计算方法进步。我们考察了机器学习(ML)与深度学习(DL)的新兴趋势,包括方法框架、验证协议和开源资源,聚焦于癌症亚型分类、生物标志物发现、治疗指导和预后预测。本研究还系统梳理了从传统机器学习向基础模型进行多模态整合的转变。我们呈现了最新基础模型进展及其在整合多组学与先进影像数据时面临的挑战。识别出当前最先进的基础模型、公开可用的多模态数据仓库以及先进的整合工具与方法。我们认为,现有最先进整合方法已为开发下一代大规模预训练模型奠定基础,有望进一步革新肿瘤学。据我们所知,这是首个系统映射从传统机器学习到先进基础模型在癌症多模态数据整合中演进历程的综述,同时将其发展定位为未来大规模人工智能模型在癌症研究中应用的基石。

原文摘要 · Abstract (English)

Cancer research is increasingly driven by the integration of diverse data modalities, spanning from genomics and proteomics to imaging and clinical factors. However, extracting actionable insights from these vast and heterogeneous datasets remains a key challenge. The rise of foundation models (FMs) -- large deep-learning models pretrained on extensive amounts of data serving as a backbone for a wide range of downstream tasks -- offers new avenues for discovering biomarkers, improving diagnosis, and personalizing treatment. This paper presents a comprehensive review of widely adopted integration strategies of multimodal data to assist advance the computational approaches for data-driven discoveries in oncology. We examine emerging trends in machine learning (ML) and deep learning (DL), including methodological frameworks, validation protocols, and open-source resources targeting cancer subtype classification, biomarker discovery, treatment guidance, and outcome prediction. This study also comprehensively covers the shift from traditional ML to FMs for multimodal integration. We present a holistic view of recent FMs advancements and challenges faced during the integration of multi-omics with advanced imaging data. We identify the state-of-the-art FMs, publicly available multi-modal repositories, and advanced tools and methods for data integration. We argue that current state-of-the-art integrative methods provide the essential groundwork for developing the next generation of large-scale, pre-trained models poised to further revolutionize oncology. To the best of our knowledge, this is the first review to systematically map the transition from conventional ML to advanced FM for multimodal data integration in oncology, while also framing these developments as foundational for the forthcoming era of large-scale AI models in cancer research.

多模态癌症研究基础模型生物信息学

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