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WinHAP: An Efficient Haplotype Phasing Algorithm Based on Scalable Sliding Windows

机译:云海:一种高效的单倍型基于相位调整算法的可伸缩滑动窗口

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摘要

Haplotype phasing represents an essential step in studying the association of genomic polymorphisms with complex genetic diseases, and in determining targets for drug designing. In recent years, huge amounts of genotype data are produced from the rapidly evolving high-throughput sequencing technologies, and the data volume challenges the community with more efficient haplotype phasing algorithms, in the senses of both running time and overall accuracy. 2SNP is one of the fastest haplotype phasing algorithms with comparable low error rates with the other algorithms. The most time-consuming step of 2SNP is the construction of a maximum spanning tree (MST) among all the heterozygous SNP pairs. We simplified this step by replacing the MST with the initial haplotypes of adjacent heterozygous SNP pairs. The multi-SNP haplotypes were estimated within a sliding window along the chromosomes. The comparative studies on four different-scale genotype datasets suggest that our algorithm WinHAP outperforms 2SNP and most of the other haplotype phasing algorithms in terms of both running speeds and overall accuracies. To facilitate the WinHAP’s application in more practical biological datasets, we released the software for free at: .
机译:单倍型定相是研究基因组多态性与复杂遗传疾病的关联以及确定药物设计目标的重要步骤。近年来,快速发展的高通量测序技术产生了大量的基因型数据,从运行时间和总体准确性的角度来看,数据量以更有效的单倍型定相算法挑战了社区。 2SNP是最快的单倍型定相算法之一,与其他算法相比具有较低的错误率。 2SNP最耗时的步骤是在所有杂合SNP对中构建最大生成树(MST)。我们通过用相邻杂合SNP对的初始单倍型取代MST简化了此步骤。在沿着染色体的滑动窗口内估计多SNP单倍型。对四个不同尺度基因型数据集的比较研究表明,我们的算法WinHAP在运行速度和总体准确性方面都优于2SNP和大多数其他单倍型定相算法。为了方便WinHAP在更实际的生物学数据集中的应用,我们在以下位置免费发布了该软件:。

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