生物信息学2016，Vol.14Issue(3)：188-194,7.DOI:10.3969/j.issn.1672-5565.03.10
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
李鑫 1李凯 2李一佳 1马磊2
作者信息
- 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
- 折叠
摘要
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.关键词
基因/测序/SeqMule/外显子/SNPKey words
Gene/Sequencing/SeqMule/Exome/SNP分类
生物科学引用本文复制引用
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):188-194,7.
