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MutantHuntWGS: A Pipeline for Identifying Saccharomyces cerevisiae Mutations.
G3: Genes, Genomes, Genetics ( IF 2.1 ) Pub Date : 2020-09-01 , DOI: 10.1534/g3.120.401396
Mitchell A Ellison 1 , Jennifer L Walker 2 , Patrick J Ropp 2 , Jacob D Durrant 2 , Karen M Arndt 1
Affiliation  

MutantHuntWGS is a user-friendly pipeline for analyzing Saccharomyces cerevisiae whole-genome sequencing data. It uses available open-source programs to: (1) perform sequence alignments for paired and single-end reads, (2) call variants, and (3) predict variant effect and severity. MutantHuntWGS outputs a shortlist of variants while also enabling access to all intermediate files. To demonstrate its utility, we use MutantHuntWGS to assess multiple published datasets; in all cases, it detects the same causal variants reported in the literature. To encourage broad adoption and promote reproducibility, we distribute a containerized version of the MutantHuntWGS pipeline that allows users to install and analyze data with only two commands. The MutantHuntWGS software and documentation can be downloaded free of charge from https://github.com/mae92/MutantHuntWGS.



中文翻译:

MutantHuntWGS:识别酿酒酵母突变的管道。

MutantHuntWGS 是用于分析酿酒酵母的用户友好型管道全基因组测序数据。它使用可用的开源程序来:(1) 对配对和单端读取执行序列比对,(2) 调用变体,以及 (3) 预测变体影响和严重性。MutantHuntWGS 输出变体的候选清单,同时还允许访问所有中间文件。为了展示它的实用性,我们使用 MutantHuntWGS 来评估多个已发布的数据集;在所有情况下,它都能检测到文献中报道的相同因果变异。为了鼓励广泛采用并提高可重复性,我们分发了 MutantHuntWGS 管道的容器化版本,允许用户仅使用两个命令安装和分析数据。MutantHuntWGS 软件和文档可以从 https://github.com/mae92/MutantHuntWGS 免费下载。

更新日期:2020-09-02
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