用基因表达数据和可解释机器学习,提升2型糖尿病早期检测准确率。
Leveraging Gene Expression Data and Explainable Machine Learning for Enhanced Early Detection of Type 2 Diabetes
- 基于基因表达数据,用六种机器学习模型识别糖尿病特征。
- XGBoost模型准确率达97%,显著优于其他方法。
- 结果可解释,适合医学研究者与临床决策支持系统使用。
2型糖尿病(T2D)带来巨大全球健康负担,其并发症如心血管疾病、肾衰竭和视力损伤严重威胁生命。早期检测对改善预后和优化医疗资源至关重要。本研究利用来自NCBI Gene Expression Omnibus(GEO)的基因表达数据,结合六种机器学习分类器,探索早期T2D检测新路径。相较于以往依赖临床与人口统计学数据的研究,本工作首次系统整合分子层面的基因表达信息,揭示疾病潜在生物机制。实验结果显示,所有模型均表现良好,其中XGBoost分类器表现最优,准确率达到97%。研究强调了基因表达数据与先进机器学习技术在早期诊断中的价值,并通过可解释人工智能(XAI)增强模型可信度,填补了该领域方法空白。
原文摘要 · Abstract (English)
Diabetes, particularly Type 2 diabetes (T2D), poses a substantial global health burden, compounded by its associated complications such as cardiovascular diseases, kidney failure, and vision impairment. Early detection of T2D is critical for improving healthcare outcomes and optimizing resource allocation. In this study, we address the gap in early T2D detection by leveraging machine learning (ML) techniques on gene expression data obtained from T2D patients. Our primary objective was to enhance the accuracy of early T2D detection through advanced ML methodologies and increase the model's trustworthiness using the explainable artificial intelligence (XAI) technique. Analyzing the biological mechanisms underlying T2D through gene expression datasets represents a novel research frontier, relatively less explored in previous studies. While numerous investigations have focused on utilizing clinical and demographic data for T2D prediction, the integration of molecular insights from gene expression datasets offers a unique and promising avenue for understanding the pathophysiology of the disease. By employing six ML classifiers on data sourced from NCBI's Gene Expression Omnibus (GEO), we observed promising performance across all models. Notably, the XGBoost classifier exhibited the highest accuracy, achieving 97%. Our study addresses a notable gap in early T2D detection methodologies, emphasizing the importance of leveraging gene expression data and advanced ML techniques.
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