ShAn: An easy-to-use tool for interactive and integrated variant annotation

被引:6
|
作者
Rathinakannan, Venkat Subramaniam [1 ]
Schukov, Hannu-Pekka [1 ]
Heron, Samuel [1 ]
Schleutker, Johanna [1 ,2 ]
Sipeky, Csilla [1 ]
机构
[1] Univ Turku, Inst Biomed, Turku, Finland
[2] Turku Univ Hosp, Div Lab, Dept Med Genet, Genom, Turku, Finland
来源
PLOS ONE | 2020年 / 15卷 / 07期
关键词
D O I
10.1371/journal.pone.0235669
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Motivation Annotation of large amounts of generated sequencing data is a demanding task. Most of the currently available robust annotation tools, like ANNOVAR, are command-line based tools which require a certain degree of programming skills. User-friendly tools for variant annotation of sequencing data with graphical interface are under-represented. Results We have developed an interactive application, which harnesses the easy usability of R Shiny and combines it with the versatile annotation features of ANNOVAR. This application is easy to use and gives comprehensive annotations for user supplied vcf files using multiples databases. The output table contains the list of variants and their corresponding annotation presented within the graphical interface. In addition, the annotation results are downloadable as text file.
引用
收藏
页数:7
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