一站式全基因组和外显子组测序数据自动分析软件(SeqMule)  

A one-stop analytic software for sequencing data of whole genome and exome: SeqMule

作　　者：李鑫 李凯[2] 李一佳 马磊[2] 

机构地区：[1]云南舜喜再生医学工程有限公司,昆明650000 [2]昆明理工大学信息工程与自动化学院,昆明650500

出　　处：《生物信息学》2016年第3期188-194,共7页Chinese Journal of Bioinformatics

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(BurrowsWheeler 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。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.

关 键 词：基因 测序 SeqMule 外显子 SNP 

分 类 号：Q343.1[生物学—遗传学]