基于阵列的基因组学数据管理

Olha Horlova, Abdulrahman Kaitoua, S. Ceri
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引用次数: 3

摘要

随着基因组数据的巨大增长,揭示了数百万个体基因组区域的多种异构特征,我们越来越需要支持特定领域的查询语言和知识提取操作,能够聚合和比较人类基因组上任意定位的数万亿个区域。虽然基于行的区域模型可以有效地用作基于云的实现的基础,但在之前的工作中,我们已经证明了基于数组的模型在支持区域保留操作类方面是有效的,即不创建任何新区域而是组成现有区域的操作。在本文中,我们消除了上述约束,并描述了一种基于数组的实现,该实现适用于基因组查询语言所要求的无限制区域操作。具体来说,我们在使用数组表示的数据集上定义了广泛的操作,并且我们表明基于数组的实现在Spark上可以很好地扩展,这也得益于有效用于支持机器学习的数据表示。我们的基准测试使用了一个独立的、预先存在的查询集合,结果表明,在许多情况下,新的基于数组的实现显著提高了基于行实现的性能。
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Array-based Data Management for Genomics
With the huge growth of genomic data, exposing multiple heterogeneous features of genomic regions for millions of individuals, we increasingly need to support domain-specific query languages and knowledge extraction operations, capable of aggregating and comparing trillions of regions arbitrarily positioned on the human genome. While row-based models for regions can be effectively used as a basis for cloud-based implementations, in previous work we have shown that the array-based model is effective in supporting the class of region-preserving operations, i.e. operations which do not create any new region but rather compose existing ones.In this paper, we remove the above constraint, and describe an array-based implementation which applies to unrestricted region operations, as required by the Genometric Query Language. Specifically, we define a wide spectrum of operations over datasets which are represented using arrays, and we show that the arraybased implementation scales well upon Spark, also thanks to a data representation which is effectively used for supporting machine learning. Our benchmark, which uses an independent, pre-existing collection of queries, shows that in many cases the novel array-based implementation significantly improves the performance of the row-based implementation.
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