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

Andreas Dander, Stephan Pabinger, Michael Sperk, Maria Fischer, Gernot Stocker, Zlatko Trajanoski
2014 BMC Research Notes  
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
more » ... cilitate 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
doi:10.1186/1756-0500-7-43 pmid:24444368 pmcid:PMC3898724 fatcat:37ba43dd3fejfhbkt4uschkawa