高效数量性状关联研究的二元时间序列查询框架

Hongfei Wang, Xiang Zhang
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引用次数: 0

摘要

数量性状关联研究探讨了数量性状与遗传变异之间的关系。作为一种很有前途的工具,它已被广泛应用于复杂疾病的遗传基础解剖。然而,这类研究通常需要测试数万亿个变异性状对,需要大量的计算资源。近年来,人们开发了几种算法来提高其效率。在本文中,我们提出了一个框架,Fabrique,它将数量性状关联研究建模为查询二进制时间序列,并将这两个看似不同的问题联系起来。具体来说,在提出的框架中,遗传变异被视为一个由二进制时间序列组成的数据库。找到与性状相关的变异相当于找到该性状最近的邻居。为了实现高效的查询过程,Fabrique对二进制时间序列进行了分区和规范化,并为每组时间序列估计了一个严格的上界来精简搜索空间。大量的实验结果表明,Fabrique只需要搜索数据库的很小一部分来定位目标变体,并且显著优于最先进的方法。我们还表明,除了遗传关联研究之外,Fabrique还可以应用于其他二进制时间序列查询问题。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Binary Time-Series Query Framework for Efficient Quantitative Trait Association Study
Quantitative trait association study examines the association between quantitative traits and genetic variants. As a promising tool, it has been widely applied to dissect the genetic basis of complex diseases. However, such study usually involves testing trillions of variant-trait pairs and demands intensive computational resources. Recently, several algorithms have been developed to improve its efficiency. In this paper, we propose a framework, Fabrique, which models quantitative trait association study as querying binary time-series and bridges the two seemly different problems. Specifically, in the proposed framework, genetic variants are treated as a database consisting of binary time-series. Finding trait-associated variants is equivalent to finding the nearest neighbors of the trait. For efficient query process, Fabrique partitions and normalizes the binary time-series, and estimates a tight upper bound for each group of time-series to prune the search space. Extensive experimental results demonstrate that Fabrique only needs to search a very small portion of the database to locate the target variants and significantly outperforms the state-of-the-art method. We also show that Fabrique can be applied to other binary time-series query problem in addition to the genetic association study.
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