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


RESULTS
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.
Division for Bioinformatics, Biocenter, Innsbruck Medical University, Innsbruck, Austria. andreas.dander@i-med.ac.at.
Andreas
A
Dander
Stephan
S
Pabinger
Michael
M
Sperk
Maria
M
Fischer
Gernot
G
Stocker
Zlatko
Z
Trajanoski
D059472:Exome; D059014:High-Throughput Nucleotide Sequencing; D017422:Sequence Analysis, DNA / Q000295:instrumentation / Q000379:methods*; D012984:Software