| 引用本文: | 李鑫,李凯,李一佳,马磊.一站式全基因组和外显子组测序数据自动分析软件(SeqMule)[J].生物信息学,2016,14(3):188-194. |
| LI Xin,LI Kai,LI Yijia,MA Lei.A one-stop analytic software for sequencing data of whole genome and exome: SeqMule[J].Chinese Journal of Bioinformatics,2016,14(3):188-194. |
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| 摘要: |
| SeqMule可根据调用的人类基因组和外显子组数据自动调节变量,对所有测序数据的单核苷酸多态性(Single nucleotide polymorphism,SNP)进行分析和注释。目的:通过对两名痛风患者的实验数据进行分析,详细地为生物信息学研究人员介绍了SeqMule软件,以期为全基因组和外显子组测序数据提供一站式的分析途径。方法:基于SeqMule内置的BWA(Burrows-Wheeler Aligner)、GATK(The Genome Analysis Toolkit)、SAMtools、Freebayes比对和分析工具,以两名痛风患者的DNA测序数据分析为例,本文详细地论述了SeqMule的特点及操作,并对两名患者的外显子测序数据进行了自动化比对与SNP分析。发现SeqMule优化了很多分析软件存在的一些问题,可以对外显子组和全基因组测序数据实现全面、灵活、高效地自动化分析,能更好地分析高通量测序数据,最终提升数据分析的一致性和准确性。 |
| 关键词: 基因 测序 SeqMule 外显子 SNP |
| DOI：10.3969/j.issn.1672-5565.2016.03.10 |
| 分类号:Q343.1 |
| 文献标识码:A |
| 基金项目: |
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| A one-stop analytic software for sequencing data of whole genome and exome: SeqMule |
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LI Xin 1, LI Kai 2, LI Yijia 1, MA Lei 2
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(1.Stem Cell And Regenerative Medicine Research Center,Yunnan Suns Regenerative Medicine Engineering Co. Kunming 650000, China;2.School of Information Engineering and Automation,Kunming University of Science and Technology, Kunming 650500, China)
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| Abstract: |
| SeqMule can adjust variables automatically according to the data of the invoked human genomes and the exomes, and also can analyze and annotate SNPs (Single Nucleotide Polymorphism). Objectives: This paper introduces SeqMule software to researchers on bioinformatics in detail by analyzing the experimental data of two patients with gout, with the hope of providing a one-stop analytical approach for the whole genomes and exomes. Methods: This paper discusses the features and operations of the SeqMule taking the analysis of DNA data of two patients with gout using the BLAST and analysis softwares such as BWA, GATK, SAMtools, Freebayes embedded in SeqMule, and also we have carried out BLASTs for the their exomes automatically and analyzed SNPs for them. Conclusions: SeqMule has resolved some questions present in many softwares. It also can analyze the data from the whole genomes and the exomes automatically in a comprehensive, flexible and efficient way, better analyze the data from high throughput sequencing, and finally improve the consistency and accuracy of the data analysis. |
| Key words: Gene Sequencing SeqMule Exome SNP |
