Jitong Xian
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摘要

肝脏疾病包括任何对肝脏正常功能产生负面影响的医学疾病。由于发病率高,对公众健康构成巨大威胁。肝脏疾病的早期诊断对成功治疗很重要,但由于肝脏疾病在早期往往表现出很少的症状,这一事实阻碍了肝脏疾病的早期诊断。在这个项目中,我收集了正常肝脏样本(n = 191)的DNA甲基化数据,以及肝脏疾病早期和晚期的数据(n = 756),确定了258个基因座在所有研究的疾病组和正常组之间存在甲基化差异。使用这些cpg作为特征,我训练了一个预测SVM(支持向量机)模型来区分肝脏是否患病,然后使用10倍交叉验证来评估模型的预测技能。SVM模型对受损肝脏和正常肝脏的分类能力较好,AUROC (Area Under Receiver Operating Characteristic curve) = 0.95, precision = 0.93, recall = 0.96。在这项研究中发现的DNA甲基化标记物有望早期诊断肝脏疾病,并为未来预防和治疗表观遗传药物的发展铺平道路。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
DNA-methylation based Machine-learning Model for Impaired Liver Function Prediction
Liver diseases include any medical disorders that negatively impact the normal functions of liver. They pose a great threat to public health due to their high prevalence. The early diagnosis of liver diseases is important for successful treatment but is hindered by the fact that liver diseases tend to show few symptoms in their early stages. In this project, I collected DNA methylation data from normal liver samples (n = 191) as well as data generated from early and late stage of liver diseases (n = 756) and identified 258 loci that were differentially methylated between all studied disease groups and the normal group. Using these CpGs as features, I trained a predictive SVM (support vector machine) model to discriminate whether a liver is diseased, and then used the 10-fold cross-validations to evaluate the model's predictive skills. The SVM model achieved outstanding classification power for impaired and normal livers, with AUROC (Area Under the Receiver Operating Characteristic curve) = 0.95, precision = 0.93, and recall = 0.96. The DNA methylation markers discovered in this study promise early diagnosis of liver diseases and pave the way for the future development of preventive and therapeutic epigenetic agents.
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