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High performance computing enabling exhaustive analysis of higher order single nucleotide polymorphism interaction in Genome Wide Association Studies.

机译:高性能计算能够在全基因组关联研究中对高阶单核苷酸多态性相互作用进行详尽分析。

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摘要

Genome-wide association studies (GWAS) are a common approach for systematic discovery of single nucleotide polymorphisms (SNPs) which are associated with a given disease. Univariate analysis approaches commonly employed may miss important SNP associations that only appear through multivariate analysis in complex diseases. However, multivariate SNP analysis is currently limited by its inherent computational complexity. In this work, we present a computational framework that harnesses supercomputers. Based on our results, we estimate a three-way interaction analysis on 1.1 million SNP GWAS data requiring over 5.8 years on the full "Avoca" IBM Blue Gene/Q installation at the Victorian Life Sciences Computation Initiative. This is hundreds of times faster than estimates for other CPU based methods and four times faster than runtimes estimated for GPU methods, indicating how the improvement in the level of hardware applied to interaction analysis may alter the types of analysis that can be performed. Furthermore, the same analysis would take under 3 months on the currently largest IBM Blue Gene/Q supercomputer "Sequoia" at the Lawrence Livermore National Laboratory assuming linear scaling is maintained as our results suggest. Given that the implementation used in this study can be further optimised, this runtime means it is becoming feasible to carry out exhaustive analysis of higher order interaction studies on large modern GWAS.
机译:全基因组关联研究(GWAS)是系统发现与特定疾病相关的单核苷酸多态性(SNP)的常用方法。常用的单变量分析方法可能会错过重要的SNP关联,这些关联仅在复杂疾病中通过多变量分析才会出现。但是,多变量SNP分析目前受到其固有的计算复杂性的限制。在这项工作中,我们提出了一个利用超级计算机的计算框架。根据我们的结果,我们估计在维多利亚时代生命科学计算计划的完整“ Avoca” IBM Blue Gene / Q安装上,需要5.8年以上的110万个SNP GWAS数据进行三向交互分析。这比对其他基于CPU的方法的估计要快数百倍,比对GPU方法的估计的运行时间要快四倍,这表明应用于交互分析的硬件水平的提高如何改变可以执行的分析类型。此外,假设我们的结果表明线性缩放得以维持,在劳伦斯·利弗莫尔国家实验室的当前最大的IBM Blue Gene / Q超级计算机“红杉”上,相同的分析将花费不到3个月的时间。鉴于可以进一步优化本研究中使用的实现,此运行时意味着对大型现代GWAS进行高阶交互研究的详尽分析变得可行。

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