GensearchNGS
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Application data |
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| Created by | Wolf B. |
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| Biological application domain(s) | Exome capture |
| Principal bioinformatics method(s) | Sequence alignment, Sequence alignment visualisation, Read alignment, Variant prioritisation, Mutation detection |
| Technology | 454, Illumina, Ion Torrent |
| Created at | Phenosystems SA |
| Maintained? | Yes |
| Input format(s) | FASTQ, FASTA, QUAL, SAM, BAM, SFF |
| Software features | Plugin framework, Cafe Variome submission |
| Programming language(s) | Java |
| Licence | Commercial |
| Operating system(s) | UNIX, Windows |
Summary: A user friendly framework for re-sequencing in a diagnostics context: searching for mutations/variants, especially on well known genes.
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Description
Gensearch(r)NGS is a user friendly framework for the analysis of targeted resequencing data from Illumina (FastQ) and Roche 454 (FastA/Qual) data files to lists of variants which can be filtered and prioritized on user defined criteria. It is plugin friendly: users can add external aligners such as Bowtie, BWA or Stampy, depending on the platform they use and their alignment requirements (the framework offers also a built in custom aligner).
Users can also built a patient centric database with the variants/mutations detected and submit variants to the public Cafe Variome platform which is an open project to help laboratories to exchange variant information.
Links
- GensearchNGS Homepage [ edit link ]
- GensearchNGS Homepage [ edit link ]
- GensearchNGS Homepage [ edit link ]
References
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