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

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.