通过人工智能实现单细胞组学疾病预测的统一框架

IF 7.9 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
Matteo Barberis, Jinkun Xie
{"title":"通过人工智能实现单细胞组学疾病预测的统一框架","authors":"Matteo Barberis,&nbsp;Jinkun Xie","doi":"10.1002/ctm2.70290","DOIUrl":null,"url":null,"abstract":"<p>Single-cell omics has emerged as a powerful tool for elucidating cellular heterogeneity in health and disease. Parallel advances in artificial intelligence (AI), particularly in pattern recognition, feature extraction and predictive modelling, now offer unprecedented opportunities to translate these insights into clinical applications. Here, we propose single-cell -omics-based Disease Predictor through AI (scDisPreAI), a unified framework that leverages AI to integrate single-cell -omics data, enabling robust disease and disease-stage prediction, alongside biomarker discovery. The foundation of scDisPreAI lies in assembling a large, standardised database spanning diverse diseases and multiple disease stages. Rigorous data preprocessing, including normalisation and batch effect correction, ensures that biological rather than technical variation drives downstream models. Machine learning pipelines or deep learning architectures can then be trained in a multi-task fashion, classifying both disease identity and disease stage. Crucially, interpretability techniques such as SHapley Additive exPlanations (SHAP) values or attention weights pinpoint the genes most influential for these predictions, highlighting biomarkers that may be shared across diseases or disease stages. By consolidating predictive modelling with interpretable biomarker identification, scDisPreAI may be deployed as a clinical decision assistant, flagging potential therapeutic targets for drug repurposing and guiding tailored treatments. In this editorial, we propose the technical and methodological roadmap for scDisPreAI and emphasises future directions, including the incorporation of multi-omics, standardised protocols and prospective clinical validation, to fully harness the transformative potential of single-cell AI in precision medicine.</p>","PeriodicalId":10189,"journal":{"name":"Clinical and Translational Medicine","volume":"15 4","pages":""},"PeriodicalIF":7.9000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ctm2.70290","citationCount":"0","resultStr":"{\"title\":\"Towards a unified framework for single-cell -omics-based disease prediction through AI\",\"authors\":\"Matteo Barberis,&nbsp;Jinkun Xie\",\"doi\":\"10.1002/ctm2.70290\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Single-cell omics has emerged as a powerful tool for elucidating cellular heterogeneity in health and disease. Parallel advances in artificial intelligence (AI), particularly in pattern recognition, feature extraction and predictive modelling, now offer unprecedented opportunities to translate these insights into clinical applications. Here, we propose single-cell -omics-based Disease Predictor through AI (scDisPreAI), a unified framework that leverages AI to integrate single-cell -omics data, enabling robust disease and disease-stage prediction, alongside biomarker discovery. The foundation of scDisPreAI lies in assembling a large, standardised database spanning diverse diseases and multiple disease stages. Rigorous data preprocessing, including normalisation and batch effect correction, ensures that biological rather than technical variation drives downstream models. Machine learning pipelines or deep learning architectures can then be trained in a multi-task fashion, classifying both disease identity and disease stage. Crucially, interpretability techniques such as SHapley Additive exPlanations (SHAP) values or attention weights pinpoint the genes most influential for these predictions, highlighting biomarkers that may be shared across diseases or disease stages. By consolidating predictive modelling with interpretable biomarker identification, scDisPreAI may be deployed as a clinical decision assistant, flagging potential therapeutic targets for drug repurposing and guiding tailored treatments. In this editorial, we propose the technical and methodological roadmap for scDisPreAI and emphasises future directions, including the incorporation of multi-omics, standardised protocols and prospective clinical validation, to fully harness the transformative potential of single-cell AI in precision medicine.</p>\",\"PeriodicalId\":10189,\"journal\":{\"name\":\"Clinical and Translational Medicine\",\"volume\":\"15 4\",\"pages\":\"\"},\"PeriodicalIF\":7.9000,\"publicationDate\":\"2025-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ctm2.70290\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical and Translational Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/ctm2.70290\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical and Translational Medicine","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ctm2.70290","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
引用次数: 0

摘要

单细胞组学已经成为阐明健康和疾病中的细胞异质性的有力工具。人工智能(AI)的平行发展,特别是在模式识别、特征提取和预测建模方面,现在为将这些见解转化为临床应用提供了前所未有的机会。在这里,我们通过AI提出了基于单细胞组学的疾病预测器(scDisPreAI),这是一个统一的框架,利用AI整合单细胞组学数据,实现强大的疾病和疾病阶段预测,以及生物标志物的发现。scDisPreAI的基础在于建立一个大型的、标准化的数据库,涵盖多种疾病和多个疾病阶段。严格的数据预处理,包括归一化和批处理效果校正,确保驱动下游模型的是生物变异,而不是技术变异。然后,机器学习管道或深度学习架构可以以多任务方式进行训练,对疾病身份和疾病阶段进行分类。至关重要的是,可解释性技术,如SHapley加性解释(SHAP)值或注意力权重,确定了对这些预测影响最大的基因,突出了可能跨疾病或疾病阶段共享的生物标志物。通过将预测模型与可解释的生物标志物鉴定相结合,scDisPreAI可以作为临床决策助手,标记药物再利用的潜在治疗靶点,并指导量身定制的治疗。在这篇社论中,我们提出了scDisPreAI的技术和方法路线图,并强调了未来的方向,包括多组学、标准化协议和前瞻性临床验证的结合,以充分利用单细胞AI在精准医学中的变革潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Towards a unified framework for single-cell -omics-based disease prediction through AI

Towards a unified framework for single-cell -omics-based disease prediction through AI

Single-cell omics has emerged as a powerful tool for elucidating cellular heterogeneity in health and disease. Parallel advances in artificial intelligence (AI), particularly in pattern recognition, feature extraction and predictive modelling, now offer unprecedented opportunities to translate these insights into clinical applications. Here, we propose single-cell -omics-based Disease Predictor through AI (scDisPreAI), a unified framework that leverages AI to integrate single-cell -omics data, enabling robust disease and disease-stage prediction, alongside biomarker discovery. The foundation of scDisPreAI lies in assembling a large, standardised database spanning diverse diseases and multiple disease stages. Rigorous data preprocessing, including normalisation and batch effect correction, ensures that biological rather than technical variation drives downstream models. Machine learning pipelines or deep learning architectures can then be trained in a multi-task fashion, classifying both disease identity and disease stage. Crucially, interpretability techniques such as SHapley Additive exPlanations (SHAP) values or attention weights pinpoint the genes most influential for these predictions, highlighting biomarkers that may be shared across diseases or disease stages. By consolidating predictive modelling with interpretable biomarker identification, scDisPreAI may be deployed as a clinical decision assistant, flagging potential therapeutic targets for drug repurposing and guiding tailored treatments. In this editorial, we propose the technical and methodological roadmap for scDisPreAI and emphasises future directions, including the incorporation of multi-omics, standardised protocols and prospective clinical validation, to fully harness the transformative potential of single-cell AI in precision medicine.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
15.90
自引率
1.90%
发文量
450
审稿时长
4 weeks
期刊介绍: Clinical and Translational Medicine (CTM) is an international, peer-reviewed, open-access journal dedicated to accelerating the translation of preclinical research into clinical applications and fostering communication between basic and clinical scientists. It highlights the clinical potential and application of various fields including biotechnologies, biomaterials, bioengineering, biomarkers, molecular medicine, omics science, bioinformatics, immunology, molecular imaging, drug discovery, regulation, and health policy. With a focus on the bench-to-bedside approach, CTM prioritizes studies and clinical observations that generate hypotheses relevant to patients and diseases, guiding investigations in cellular and molecular medicine. The journal encourages submissions from clinicians, researchers, policymakers, and industry professionals.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信