Difference between revisions of "GensearchNGS"
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|bio domain=Targeted resequencing | |bio domain=Targeted resequencing | ||
|bio method=Alignment, Alignment viewer, Read Alignment, Variant Prioritization, Mutation detection, Database, Database submission preparation | |bio method=Alignment, Alignment viewer, Read Alignment, Variant Prioritization, Mutation detection, Database, Database submission preparation | ||
− | |bio tech=454,Illumina | + | |bio tech=454,Illumina,Ion Torrent |
|created by=Wolf B. | |created by=Wolf B. | ||
|created at=Phenosystems SA | |created at=Phenosystems SA | ||
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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. | 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. | ||
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{{Links}} | {{Links}} | ||
{{References}} | {{References}} | ||
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Revision as of 18:47, 17 February 2013
Application data |
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Created by | Wolf B. |
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Biological application domain(s) | Targeted resequencing |
Principal bioinformatics method(s) | Alignment, Alignment viewer, Read Alignment, Variant Prioritization, Mutation detection, Database, Database submission preparation |
Technology | 454, Illumina, Ion Torrent |
Created at | Phenosystems SA |
Maintained? | Yes |
Input format(s) | FASTQ, FASTA, QUAL, SAM, BAM |
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
none specified
To add a reference for GensearchNGS, enter the PubMed ID in the field below and click 'Add'.
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