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SeqBench: integrated solution for the management and analysis of exome sequencing data
Andreas Dander1, Stephan Pabinger, Michael Sperk
1Division for Bioinformatics, Biocenter, Innsbruck Medical University, Innsbruck, Austria. andreas.dander@i-med.ac.at.
BMC Research Notes
|January 22, 2014
Summary
SeqBench is an open-source web application for managing and analyzing exome sequencing data. It integrates data handling and analysis, making genomic variant interpretation accessible for research institutions.
Area of Science:
- Genomics
- Bioinformatics
Background:
- Next-generation sequencing (NGS) technologies, including benchtop sequencers, have increased accessibility to sequencing for smaller research institutions.
- Exome sequencing is a cost-effective and time-efficient method for identifying disease-causing mutations.
Purpose of the Study:
- To develop a comprehensive solution for managing and analyzing exome sequencing data.
- To provide a user-friendly platform for researchers to handle and interpret genomic variants.
Main Methods:
- Development of SeqBench, a web-based application integrating data management and analysis.
- Integration with the SIMPLEX analysis pipeline, configurable for local, cluster, or cloud deployment.
- Inclusion of a user-friendly data acquisition module for intuitive data handling.
Main Results:
- SeqBench offers a unified solution for exome sequencing data management and analysis.
- The application facilitates comprehensive data handling and provides direct access to the SIMPLEX analysis pipeline.
- Identified genomic variants are presented with functional annotations and can be interpreted within a family context.
Conclusions:
- SeqBench supports the management and analysis of exome sequencing data.
- The application is open-source and available for broader research use.
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