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

BMC Research Notes

Zlatko Trajanoski³  Gernot Stocker⁴  Maria Fischer⁴  Michael Sperk¹  Stephan Pabinger²  Andreas Dander³ 

[1] ADSI, Austrian Drug Screening Institute, Innsbruck, Austria;AIT - Austrian Institute of Technology, Health & Environment Department, Molecular Diagnostics, Vienna, Austria;Oncotyrol, Center for Personalized Cancer Medicine, Innsbruck, Austria;Division for Bioinformatics, Biocenter, Innsbruck Medical University, Innsbruck, Austria

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

Others  :  1134776
DOI  :  10.1186/1756-0500-7-43

 received in 2013-07-10, accepted in 2014-01-14,  发布年份 2014

【 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 athttp://www.icbi.at/SeqBench webcite.

【 授权许可】

   
2014 Dander et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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