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ShAn:一个易于使用的交互式综合变异注释工具。

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

作者信息

Rathinakannan Venkat Subramaniam, Schukov Hannu-Pekka, Heron Samuel, Schleutker Johanna, Sipeky Csilla

机构信息

Institute of Biomedicine, University of Turku, Turku, Finland.

Department of Medical Genetics,Genomics, Division of Laboratory, Turku University Hospital, Turku, Finland.

出版信息

PLoS One. 2020 Jul 7;15(7):e0235669. doi: 10.1371/journal.pone.0235669. eCollection 2020.

Abstract

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.

摘要

动机

对大量生成的测序数据进行注释是一项艰巨的任务。目前大多数可用的强大注释工具,如ANNOVAR,都是基于命令行的工具,需要一定程度的编程技能。具有图形界面的用于测序数据变异注释的用户友好型工具较少。

结果

我们开发了一个交互式应用程序,它利用了R Shiny的易用性,并将其与ANNOVAR的通用注释功能相结合。该应用程序易于使用,并使用多个数据库为用户提供的vcf文件给出全面的注释。输出表包含变异列表及其在图形界面中呈现的相应注释。此外,注释结果可作为文本文件下载。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccd9/7340278/6e77aa40660f/pone.0235669.g001.jpg

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