SeqBench: integrated solution for the management and analysis of exome sequencing data
| Autor: | Maria Fischer, Michael Sperk, Zlatko Trajanoski, Andreas Dander, Stephan Pabinger, Gernot Stocker |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Open-source
Group method of data handling Data analysis Context (language use) General Biochemistry Genetics and Molecular Biology DNA sequencing Technical Note Virtual machine image Web application Medicine Sequencing Exome Exome sequencing Medicine(all) Biochemistry Genetics and Molecular Biology(all) business.industry High-Throughput Nucleotide Sequencing General Medicine Sequence Analysis DNA Pipeline (software) Data science business Cloud ABI Solid Sequencing Software |
| Zdroj: | BMC Research Notes |
| ISSN: | 1756-0500 |
| Popis: | 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. 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. 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 . |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink