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慢性肾脏病中基于组学驱动的机器学习实现经济高效精准医疗的途径

The Omics-Driven Machine Learning Path to Cost-Effective Precision Medicine in Chronic Kidney Disease.

作者信息

Lopes Marta B, Coletti Roberta, Duranton Flore, Glorieux Griet, Jaimes Campos Mayra Alejandra, Klein Julie, Ley Matthias, Perco Paul, Sampri Alexia, Tur-Sinai Aviad

机构信息

Center for Mathematics and Applications (NOVA Math), NOVA School of Science and Technology (NOVA FCT), Caparica, Portugal.

UNIDEMI, Department of Mechanical and Industrial Engineering, NOVA School of Science and Technology (NOVA FCT), Caparica, Portugal.

出版信息

Proteomics. 2025 Jan 10:e202400108. doi: 10.1002/pmic.202400108.

DOI:10.1002/pmic.202400108
PMID:39790049
Abstract

Chronic kidney disease (CKD) poses a significant and growing global health challenge, making early detection and slowing disease progression essential for improving patient outcomes. Traditional diagnostic methods such as glomerular filtration rate and proteinuria are insufficient to capture the complexity of CKD. In contrast, omics technologies have shed light on the molecular mechanisms of CKD, helping to identify biomarkers for disease assessment and management. Artificial intelligence (AI) and machine learning (ML) could transform CKD care, enabling biomarker discovery for early diagnosis and risk prediction, and personalized treatment. By integrating multi-omics datasets, AI can provide real-time, patient-specific insights, improve decision support, and optimize cost efficiency by early detection and avoidance of unnecessary treatments. Multidisciplinary collaborations and sophisticated ML methods are essential to advance diagnostic and therapeutic strategies in CKD. This review presents a comprehensive overview of the pipeline for translating CKD omics data into personalized treatment, covering recent advances in omics research, the role of ML in CKD, and the critical need for clinical validation of AI-driven discoveries to ensure their efficacy, relevance, and cost-effectiveness in patient care.

摘要

慢性肾脏病(CKD)对全球健康构成了重大且日益严峻的挑战,因此早期检测和减缓疾病进展对于改善患者预后至关重要。传统的诊断方法,如肾小球滤过率和蛋白尿检测,不足以全面反映CKD的复杂性。相比之下,组学技术揭示了CKD的分子机制,有助于识别用于疾病评估和管理的生物标志物。人工智能(AI)和机器学习(ML)可以变革CKD的治疗,实现用于早期诊断和风险预测的生物标志物发现以及个性化治疗。通过整合多组学数据集,AI可以提供实时、针对个体患者的见解,改善决策支持,并通过早期检测和避免不必要的治疗来优化成本效益。多学科合作和先进的ML方法对于推进CKD的诊断和治疗策略至关重要。本综述全面概述了将CKD组学数据转化为个性化治疗的流程,涵盖了组学研究的最新进展、ML在CKD中的作用,以及对AI驱动的发现进行临床验证的迫切需求,以确保其在患者护理中的有效性、相关性和成本效益。

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本文引用的文献

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Identification of Spatial Specific Lipid Metabolic Signatures in Long-Standing Diabetic Kidney Disease.长期糖尿病肾病中空间特异性脂质代谢特征的鉴定
Metabolites. 2024 Nov 20;14(11):641. doi: 10.3390/metabo14110641.
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Sci Rep. 2024 Sep 27;14(1):22114. doi: 10.1038/s41598-024-72970-3.
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Association between GATM gene polymorphism and progression of chronic kidney disease: a mitochondrial related genome-wide Mendelian randomization study.GATM基因多态性与慢性肾脏病进展的关联:一项线粒体相关的全基因组孟德尔随机化研究
Sci Rep. 2024 Sep 16;14(1):20346. doi: 10.1038/s41598-024-68448-x.
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LIANA+ provides an all-in-one framework for cell-cell communication inference.LIANA+ 提供了一个用于细胞间通讯推断的一体化框架。
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Genetics of Chronic Kidney Disease.慢性肾脏病的遗传学
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A methylation risk score for chronic kidney disease: a HyperGEN study.慢性肾脏病甲基化风险评分:一项 HyperGEN 研究。
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Integrated multi-omics with machine learning to uncover the intricacies of kidney disease.运用整合多组学和机器学习技术揭示肾脏疾病的复杂性。
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Single-cell multi-omic and spatial profiling of human kidneys implicates the fibrotic microenvironment in kidney disease progression.单细胞多组学和空间分析揭示了人类肾脏纤维化微环境在肾脏疾病进展中的作用。
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