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BMC Res Notes. 2014 Jan 20;7:43. doi: 10.1186/1756-0500-7-43.

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

Author information

1
Division for Bioinformatics, Biocenter, Innsbruck Medical University, Innsbruck, Austria. andreas.dander@i-med.ac.at.

Abstract

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 http://www.icbi.at/SeqBench.

PMID:
24444368
PMCID:
PMC3898724
DOI:
10.1186/1756-0500-7-43
[Indexed for MEDLINE]
Free PMC Article

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