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利用人类基因组数据和机器学习预测重症登革热。

Severe Dengue Prognosis Using Human Genome Data and Machine Learning.

出版信息

IEEE Trans Biomed Eng. 2019 Oct;66(10):2861-2868. doi: 10.1109/TBME.2019.2897285. Epub 2019 Feb 4.

Abstract

UNLABELLED

Dengue has become one of the most important worldwide arthropod-borne diseases. Dengue phenotypes are based on laboratorial and clinical exams, which are known to be inaccurate.

OBJECTIVE

We present a machine learning approach for the prediction of dengue fever severity based solely on human genome data.

METHODS

One hundred and two Brazilian dengue patients and controls were genotyped for 322 innate immunity single nucleotide polymorphisms (SNPs). Our model uses a support vector machine algorithm to find the optimal loci classification subset and then an artificial neural network (ANN) is used to classify patients into dengue fever or severe dengue.

RESULTS

The ANN trained on 13 key immune SNPs selected under dominant or recessive models produced median values of accuracy greater than 86%, and sensitivity and specificity over 98% and 51%, respectively.

CONCLUSION

The proposed classification method, using only genome markers, can be used to identify individuals at high risk for developing the severe dengue phenotype even in uninfected conditions.

SIGNIFICANCE

Our results suggest that the genetic context is a key element in phenotype definition in dengue. The methodology proposed here is extendable to other Mendelian based and genetically influenced diseases.

摘要

未加标签

登革热已成为全球最重要的虫媒传染病之一。登革热表型基于实验室和临床检查,这些检查已知并不准确。

目的

我们提出了一种基于人类基因组数据预测登革热严重程度的机器学习方法。

方法

对 102 名巴西登革热患者和对照者进行了 322 个固有免疫单核苷酸多态性(SNP)的基因分型。我们的模型使用支持向量机算法来找到最佳的基因座分类子集,然后使用人工神经网络(ANN)将患者分为登革热或重症登革热。

结果

在显性或隐性模型下选择的 13 个关键免疫 SNP 训练的 ANN 产生了大于 86%的准确性中位数,敏感性和特异性分别超过 98%和 51%。

结论

所提出的分类方法仅使用基因组标记,即使在未感染的情况下,也可用于识别发生重症登革热表型的高危个体。

意义

我们的结果表明,遗传背景是登革热表型定义的关键因素。这里提出的方法可扩展到其他基于孟德尔遗传和遗传影响的疾病。

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