Computational Tools for SNP Interactions - How Good Are They?

F. R. B. Araujo, K. Guimaraes
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引用次数: 1

Abstract

It is no trivial task to sift through huge amounts of SNP data to detect interactions between SNPs that can be relevant to identify propensity for a certain disease or a phenotype trait of interest, especially because many times it also involves the influence of environmental aspects. In a previous work, we analyzed the impact of different epistatic models on the accuracy of exhaustive computational methods. Those methods have good accuracy, but they are by nature, highly computationally demanding, hence not well suited for large population size or large number of SNPs, as found in genome-wide studies. In this paper, we report the results of a comparative study of methods for detecting epistatic interactions, based on recent trends, namely greedy and Bayesian computational approaches. Our experiments reveal that all methods have better performance in scenarios with higher values for heritability and minor allele frequency (MAF). In general, in terms of accuracy, BOOST outperformed the other methods studied. Even presenting an statistically significantly better performance, BOOST could not reach 40% accuracy when there were 50 or more SNPs, for cases with heritability 0.01 and MAF 0.2, even with a large number of individuals. Keywords-SNPs; Interactions; Computational Approaches;
SNP相互作用的计算工具-它们有多好?
筛选大量的SNP数据来检测SNP之间的相互作用并不是一项简单的任务,这些SNP之间的相互作用可能与确定某种疾病的倾向或感兴趣的表型性状有关,特别是因为很多时候它还涉及环境方面的影响。在之前的工作中,我们分析了不同上位模型对穷举计算方法准确性的影响。这些方法有很好的准确性,但它们本质上是高计算要求的,因此不太适合在全基因组研究中发现的大群体规模或大量SNPs。在本文中,我们报告了基于最近趋势的检测上位相互作用方法的比较研究结果,即贪婪和贝叶斯计算方法。我们的实验表明,在遗传率较高和等位基因频率较小的情况下,所有方法都具有更好的性能。总的来说,在准确性方面,BOOST优于其他研究的方法。即使在统计上表现出更好的性能,当有50个或更多的snp时,BOOST也无法达到40%的准确率,对于遗传力为0.01和MAF为0.2的病例,即使个体数量很大。Keywords-SNPs;相互作用;计算方法;
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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