You do not have permission to edit this page, for the following reason:
The action you have requested is limited to users in the group: Users.
Short description:
Please summarise the application in a few sentences. Avoid links here. A user friendly framework for re-sequencing in a diagnostics context: searching for mutations/variants, especially on well known genes.
Software version:
Biological application domain(s) (Phylogenetics, Genomics, ...):
Exome capture
Principal bioinformatics method(s) (Assembly, Mapping, ...):
Sequence alignment, Sequence alignment visualisation, Read alignment, Variant prioritisation, Mutation detection
Technology (Sanger, Illumina, 454, SOLiD, Ion Torrent, ...):
454,Illumina,Ion Torrent
Interface (Command line, Web UI, Desktop GUI, SOAP WS, HTTP WS, API, QL):
Resource type (Command-line tool, Web application, Desktop application, Script, Suite, Workbench, Database portal, Workflow, Plug-in, Library, Web API, Web service, SPARQL endpoint):
Phenosystems SA
== 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.
Once you save the form, you will have the chance to add links and references.
Summary of edit
This is a minor edit Watch this page
Cancel