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SNP Selection in Genome-Wide Association Studies via Penalized Support Vector Machine with MAX Test

机译:带有惩罚性支持向量机的MAX检验在全基因组关联研究中的SNP选择

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摘要

One of main objectives of a genome-wide association study (GWAS) is to develop a prediction model for a binary clinical outcome using single-nucleotide polymorphisms (SNPs) which can be used for diagnostic and prognostic purposes and for better understanding of the relationship between the disease and SNPs. Penalized support vector machine (SVM) methods have been widely used toward this end. However, since investigators often ignore the genetic models of SNPs, a final model results in a loss of efficiency in prediction of the clinical outcome. In order to overcome this problem, we propose a two-stage method such that the the genetic models of each SNP are identified using the MAX test and then a prediction model is fitted using a penalized SVM method. We apply the proposed method to various penalized SVMs and compare the performance of SVMs using various penalty functions. The results from simulations and real GWAS data analysis show that the proposed method performs better than the prediction methods ignoring the genetic models in terms of prediction power and selectivity.
机译:全基因组关联研究(GWAS)的主要目标之一是使用单核苷酸多态性(SNP)开发二元临床结果的预测模型,该模型可用于诊断和预后以及更好地了解两者之间的关系。疾病和SNP。为此,惩罚性支持向量机(SVM)方法已被广泛使用。但是,由于研究人员经常忽略SNP的遗传模型,因此最终模型会导致预测临床结果的效率下降。为了克服这个问题,我们提出了一种两阶段方法,即使用MAX检验识别每个SNP的遗传模型,然后使用惩罚SVM方法拟合预测模型。我们将提出的方法应用于各种惩罚SVM,并使用各种惩罚函数比较SVM的性能。仿真和实际GWAS数据分析的结果表明,该方法在预测能力和选择性方面都比忽略遗传模型的预测方法更好。

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