Mudi, a web tool for identifying mutations by bioinformatics analysis of whole-genome sequence
Mudi, a web tool for identifying mutations by bioinformatics analysis of whole-genome sequence
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DOI：
10.1111/gtc.12151
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发表时间：
2014-06-01
期刊：
影响因子：
2.1
通讯作者：
Iida, Tetsushi
中科院分区：
文献类型：
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作者：
Iida, Naoko;Yamao, Fumiaki;Iida, Tetsushi
在正向遗传学中，突变的鉴定是一个耗时费力的过程。现代全基因组测序，加上生物信息学分析，使快速和具有成本效益的突变鉴定。然而，对于许多实验研究人员来说，生物信息学分析仍然是全基因组测序的难点。为了解决这个问题，我们开发了一种浏览器可访问且易于使用的生物信息学工具，称为突变发现（Mudi; http：//naoii.nig.ac.jp/mudi_top.html），其能够从全基因组序列数据中一键识别致病突变。在这项研究中，我们优化了Mudi的池连锁分析，旨在确定酵母模型系统中的突变体。原始测序数据上传后，Mudi进行序列分析，包括作图、检测变异等位基因、过滤和去除背景多态性、优先级排序和注释。在一项对裂殖酵母裂殖酵母中ptr 1 -1的抑制突变体的示例研究中，Mudi的合并连锁分析鉴定了mip 1+（雷帕霉素复合物1靶点（TORC 1）的一种成分），作为一种参与RNA干扰（RNAi）相关细胞周期控制的新成分。Mudi的可获得性将加速正向遗传学中的系统突变分析。
In forward genetics, identification of mutations is a time-consuming and laborious process. Modern whole-genome sequencing, coupled with bioinformatics analysis, has enabled fast and cost-effective mutation identification. However, for many experimental researchers, bioinformatics analysis is still a difficult aspect of whole-genome sequencing. To address this issue, we developed a browser-accessible and easy-to-use bioinformatics tool called Mutation discovery (Mudi; http://naoii.nig.ac.jp/mudi_top.html), which enables one-click' identification of causative mutations from whole-genome sequence data. In this study, we optimized Mudi for pooled-linkage analysis aimed at identifying mutants in yeast model systems. After raw sequencing data are uploaded, Mudi performs sequential analysis, including mapping, detection of variant alleles, filtering and removal of background polymorphisms, prioritization, and annotation. In an example study of suppressor mutants of ptr1-1 in the fission yeast Schizosaccharomyces pombe, pooled-linkage analysis with Mudi identified mip1+, a component of Target of Rapamycin Complex 1 (TORC1), as a novel component involved in RNA interference (RNAi)-related cell-cycle control. The accessibility of Mudi will accelerate systematic mutation analysis in forward genetics.