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机器学习与多组学整合:推动心血管转化研究与临床实践

Machine learning and multi-omics integration: advancing cardiovascular translational research and clinical practice.

作者信息

Lin Mingzhi, Guo Jiuqi, Gu Zhilin, Tang Wenyi, Tao Hongqian, You Shilong, Jia Dalin, Sun Yingxian, Jia Pengyu

机构信息

Department of Cardiology, The First Hospital of China Medical University, 155 Nanjing North Street, Heping District, Shenyang, 110001, People's Republic of China.

Key Laboratory of Environmental Stress and Chronic Disease Control and Prevention, Ministry of Education, China Medical University, Shenyang, Liaoning, China.

出版信息

J Transl Med. 2025 Apr 2;23(1):388. doi: 10.1186/s12967-025-06425-2.

Abstract

The global burden of cardiovascular diseases continues to rise, making their prevention, diagnosis and treatment increasingly critical. With advancements and breakthroughs in omics technologies such as high-throughput sequencing, multi-omics approaches can offer a closer reflection of the complex physiological and pathological changes in the body from a molecular perspective, providing new microscopic insights into cardiovascular diseases research. However, due to the vast volume and complexity of data, accurately describing, utilising, and translating these biomedical data demands substantial effort. Researchers and clinicians are actively developing artificial intelligence (AI) methods for data-driven knowledge discovery and causal inference using various omics data. These AI approaches, integrated with multi-omics research, have shown promising outcomes in cardiovascular studies. In this review, we outline the methods for integrating machine learning, one of the most successful applications of AI, with omics data and summarise representative AI models developed that leverage various omics data to facilitate the exploration of cardiovascular diseases from underlying mechanisms to clinical practice. Particular emphasis is placed on the effectiveness of using AI to extract potential molecular information to address current knowledge gaps. We discuss the challenges and opportunities of integrating omics with AI into routine diagnostic and therapeutic practices and anticipate the future development of novel AI models for wider application in the field of cardiovascular diseases.

摘要

心血管疾病的全球负担持续上升,这使得其预防、诊断和治疗变得越来越关键。随着高通量测序等组学技术的进步和突破,多组学方法能够从分子角度更紧密地反映身体复杂的生理和病理变化,为心血管疾病研究提供新的微观见解。然而,由于数据量巨大且复杂,准确描述、利用和解读这些生物医学数据需要付出巨大努力。研究人员和临床医生正在积极开发人工智能(AI)方法,用于利用各种组学数据进行数据驱动的知识发现和因果推断。这些与多组学研究相结合的人工智能方法,在心血管研究中已显示出有前景的成果。在这篇综述中,我们概述了将人工智能最成功的应用之一——机器学习与组学数据相结合的方法,并总结了已开发的具有代表性的人工智能模型,这些模型利用各种组学数据促进从潜在机制到临床实践的心血管疾病探索。特别强调了利用人工智能提取潜在分子信息以填补当前知识空白的有效性。我们讨论了将组学与人工智能整合到常规诊断和治疗实践中的挑战与机遇,并展望了新型人工智能模型在心血管疾病领域更广泛应用的未来发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7694/11966820/2275866a3d9f/12967_2025_6425_Fig1_HTML.jpg

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