基于宿主遗传变异预测进展为活动性肺结核风险的自动化方法

Wanying Dou, Yihang Liu, Zehai Liu, D. Yerezhepov, U. Kozhamkulov, A. Akilzhanova, Omar Dib, Chee-Kai Chan
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引用次数: 1

摘要

结核病是一项全球性的卫生挑战。结核分枝杆菌(M.tb)能够逃避宿主免疫系统,从而导致结核病感染。结核病病例的家庭接触者有较高的感染风险。需要新的预测技术来确定结核病高危易感人群。对结核病的易感性与宿主遗传变异有关。本研究使用TPOT autoML工具对遗传变异和结核感染状态进行数学映射。基于相关宿主遗传变异,采用机器学习来预测进展为活动性结核病的风险。在使用的三种配置中,“TPOT Default”、“TPOT sparars”、“TPOT N”、“TPOT Default”和“TPOT sparse”的训练CV得分都达到了0.816,测试准确率达到了0.625。使用这种方法鉴定的不同基因变异被发现对结核感染有不同的贡献,这代表了分类器的特征重要性。采用“TPOT稀疏”中随机森林分类器管道的特征重要性。前10个贡献基因也提交给enrichment进行基因途径富集分析。已确定的富集途径已被证明是结核感染的关键。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An AutoML Approach for Predicting Risk of Progression to Active Tuberculosis based on Its Association with Host Genetic Variations
Tuberculosis (TB) is a worldwide health challenge. Mycobacterium tuberculosis(M.tb) is capable of evading the host immune system which can lead to tuberculosis infection. Household contacts (HHCs) of TB cases have a higher risk of infection. Novel predictive techniques to identify high-risk TB susceptible groups are needed. Susceptibility to Tuberculosis is associated with host genetic variations. This research work uses the TPOT autoML tool to map genetic variations and TB infection status mathematically. Machine learning was employed to predict the risk of progression to active tuberculosis based on associated host genetic variation. Among the three adopted configurations, "TPOT Default", "TPOT spars", "TPOT N that were used,” “TPOT Default," and "TPOT sparse" produced the same best performance both reaching 0.816 Training CV score and 0.625 Testing Accuracy. Different genes variants identified using this approach were found to have distinctive contributions for TB infection, which represent the feature importance of the classifier. The feature importance of the random forest classifier pipeline in "TPOT sparse" was adopted. The top ten contributing genes were also submitted to Enrichr for gene pathway enrichment analysis. The identified enriched pathways have been shown to be key to TB infection.
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