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FastHap: fast and accurate single individual haplotype reconstruction using fuzzy conflict graphs

机译:FastHap:使用模糊冲突图快速准确地重建单个单倍型

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摘要

>Motivation: Understanding exact structure of an individual’s haplotype plays a significant role in various fields of human genetics. Despite tremendous research effort in recent years, fast and accurate haplotype reconstruction remains as an active research topic, mainly owing to the computational challenges involved. Existing haplotype assembly algorithms focus primarily on improving accuracy of the assembly, making them computationally challenging for applications on large high-throughput sequence data. Therefore, there is a need to develop haplotype reconstruction algorithms that are not only accurate but also highly scalable.>Results: In this article, we introduce FastHap, a fast and accurate haplotype reconstruction approach, which is up to one order of magnitude faster than the state-of-the-art haplotype inference algorithms while also delivering higher accuracy than these algorithms. FastHap leverages a new similarity metric that allows us to precisely measure distances between pairs of fragments. The distance is then used in building the fuzzy conflict graphs of fragments. Given that optimal haplotype reconstruction based on minimum error correction is known to be NP-hard, we use our fuzzy conflict graphs to develop a fast heuristic for fragment partitioning and haplotype reconstruction.>Availability: An implementation of FastHap is available for sharing on request.>Contact:
机译:>动机:了解个人单倍型的确切结构在人类遗传学的各个领域都发挥着重要作用。尽管近年来进行了巨大的研究,但由于所涉及的计算挑战,快速,准确的单体型重建仍然是一个活跃的研究主题。现有的单倍型组装算法主要集中在提高组装的准确性上,这使得它们在大型高通量序列数据上的应用在计算上具有挑战性。因此,需要开发一种不仅准确而且具有高度可扩展性的单倍型重建算法。>结果:在本文中,我们介绍了FastHap,这是一种快速,准确的单倍型重建方法,该方法可以比最新的单倍型推理算法快一个数量级,同时还提供比这些算法更高的准确性。 FastHap利用了新的相似性度量标准,该度量标准使我们能够精确地测量片段对之间的距离。然后将距离用于构建片段的模糊冲突图。鉴于已知基于最小纠错的最佳单倍型重构已知是NP-hard,因此我们使用模糊冲突图来开发用于片段划分和单倍型重构的快速启发式方法。>可用性:FastHap的一种实现是可根据要求共享。>联系人

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