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A graph extension of the positional Burrows–Wheeler transform and its applications

机译:位置Burrows-Wheeler变换的图扩展及其应用

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摘要

We present a generalization of the positional Burrows–Wheeler transform, or PBWT, to genome graphs, which we call the gPBWT. A genome graph is a collapsed representation of a set of genomes described as a graph. In a genome graph, a haplotype corresponds to a restricted form of walk. The gPBWT is a compressible representation of a set of these graph-encoded haplotypes that allows for efficient subhaplotype match queries. We give efficient algorithms for gPBWT construction and query operations. As a demonstration, we use the gPBWT to quickly count the number of haplotypes consistent with random walks in a genome graph, and with the paths taken by mapped reads; results suggest that haplotype consistency information can be practically incorporated into graph-based read mappers. We estimate that with the gPBWT of the order of 100,000 diploid genomes, including all forms structural variation, could be stored and made searchable for haplotype queries using a single large compute node.
机译:我们将位置Burrows-Wheeler变换或PBWT推广到基因组图,我们称之为gPBWT。基因组图是描述为图形的一组基因组的折叠表示。在基因组图中,单倍型对应于步行的受限形式。 gPBWT是这些图编码单倍型集合的可压缩表示形式,可用于高效的亚单倍型匹配查询。我们提供了用于gPBWT构建和查询操作的高效算法。作为演示,我们使用gPBWT快速计数与基因组图中随机游动以及映射读段所采用的路径一致的单倍型的数量;结果表明,单倍型一致性信息可以实际纳入基于图的阅读映射器中。我们估计,使用100,000个二倍体基因组(包括所有形式的结构变异)的gPBWT,可以使用单个大型计算节点进行存储并使其可用于单倍型查询。

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