标记阵列泛基因组基因分型。

Taher Mun, Naga Sai Kavya Vaddadi, Ben Langmead
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引用次数: 0

摘要

我们提出了一种新的方法和软件工具,称为rowbowt,应用泛基因组指数从短读测序数据推断基因型的问题。该方法使用一种称为标记数组的新颖索引结构。使用标记阵列,我们可以根据像1000基因组计划这样的大型面板进行基因型变异,同时避免与单个线性参考对齐时产生的参考偏差。与现有的基于图的方法相比,Rowbowt可以在更短的时间和内存中推断出准确的基因型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Pangenomic Genotyping with the Marker Array.

We present a new method and software tool called rowbowt that applies a pangenome index to the problem of inferring genotypes from short-read sequencing data. The method uses a novel indexing structure called the marker array. Using the marker array, we can genotype variants with respect from large panels like the 1000 Genomes Project while avoiding the reference bias that results when aligning to a single linear reference. rowbowt can infer accurate genotypes in less time and memory compared to existing graph-based methods.

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Pangenomic Genotyping with the Marker Array. Markov Chains: Log Likelihood ( II ) Detection of Motifs (I) Frequencies and Percentages ( II ) Tree of Life: Genomes ( II )
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