It integrates all the steps from importing and filtering sequence reads, bar code splitting, alignment, variant detection and annotation to the final report of detected variants. Variants can be annotated with various public and private data sources (Ensembl, Alamut, Genome Trax,...) They can be filtered by logical combinations between samples for family studies.
- Only one analysis project can be created and used
- Not more than 3 patients can be analysed
DNAseq workflow in a diagnostic context, and an example of a user friendly implementation
Beat Wolf, Pierre Kuonen, Thomas Dandekar, David Atlan
BioMed Research International, 2015
If you use the software and detect potential bugs we would greatly appreciate a bug report via email.
The program itself may not be modified in any way, may not be reverse-engineered nor may it be distributed outside your institution. If one of your colleagues from another institution is interested, please refer him to gnaty.phenosystems.com to register and download from our site.
This license does not allow the use of this program for any commercial purpose. If you wish to use this program for commercial purposes, please contact Phenosystems for a commercial licence agreement.
No guarantees are given as to the program's correctness, or the accuracy or completeness of its output. Phenosystems (including its affiliates, contractors and employees) accepts no liability for damage or otherwise following from using and interpreting the output of this program.
The software is supplied "as is", without obligation by Phenosystems or the authors to provide any services or support. Free bug fixes may be implemented, depending on the availability of resources. If you require support and updates, these can be provided with a commercial agreement.
The software is for research use only, not for diagnostics purposes.
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