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Short description:
Please summarise the application in a few sentences. Avoid links here. Genome Trax™ enables you to identify human genome variations of functional significance by mapping your NGS data to known elements such as disease mutations and regulatory sites.
Software version:
Biological application domain(s) (Phylogenetics, Genomics, ...):
Structural variation, Regulatory genomics, SNP detection, Indel detection,
Principal bioinformatics method(s) (Assembly, Mapping, ...):
Technology (Sanger, Illumina, 454, SOLiD, Ion Torrent, ...):
Illumina, 454, ABI SOLiD
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):
BIOBASE GmBH
== Description == <!-- Describe the application in the space below --> * Prioritize mutations from whole exome or whole genome sequencing * Uncover the impact of your human variants on disease risk, gene regulation, and protein function. * Remove biologically irrelevant mutations and reduce the amount of mutations you have to investigate * Identify novel mutations not previously reported in the literature * Understand gene regulation changes in your variants by mapping novel mutations to known or predicted regulatory sites * Find disease genes, drug targets, and pathways linked to your variations To get access to free trial, please drop me a message at : desmond.fernandes@biobase-international.com <!-- -->
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