SeqBench: Integrated solution for the management and analysis of exome sequencing data

被引：6

作者：

Dander A. ^{[1
,2
]}

Pabinger S. ^{[1
,3
]}

Sperk M. ^{[1
,4
]}

Fischer M. ^{[1
]}

Stocker G. ^{[1
]}

Trajanoski Z. ^{[1
,2
]}

机构：

[1] Division for Bioinformatics, Biocenter, Innsbruck Medical University, Innsbruck

[2] Oncotyrol, Center for Personalized Cancer Medicine, Innsbruck

[3] AIT - Austrian Institute of Technology, Health and Environment Department, Molecular Diagnostics, Vienna

[4] ADSI, Austrian Drug Screening Institute, Innsbruck

来源：

BMC Research Notes | / 7卷 / 1期

关键词：

Cloud; Data analysis; Exome; Open-source; Sequencing; Virtual machine image; Web application;

D O I：

10.1186/1756-0500-7-43

中图分类号：

学科分类号：

摘要：

Background: The rapid development of next generation sequencing technologies, including the recently introduced benchtop sequencers, made sequencing affordable for smaller research institutions. A widely applied method to identify causing mutations of diseases is exome sequencing, which proved to be cost-effective and time-saving. Findings. SeqBench, a web-based application, combines management and analysis of exome sequencing data into one solution. It provides a user friendly data acquisition module to facilitate comprehensive and intuitive data handling. SeqBench provides direct access to the analysis pipeline SIMPLEX, which can be configured to run locally, on a cluster, or in the cloud. Identified genomic variants are presented along with several functional annotations and can be interpreted in a family context. Conclusions: The web-based application SeqBench supports the management and analysis of exome sequencing data, is open-source and available at. © 2014 Dander et al.; licensee BioMed Central Ltd.

引用

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