About the resource
Type of resource: Variant analysis
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The GeneGrid software is a tool for identifying relevant variants from exome or whole genome sequencing that is being developed by Genomatix, a partner in the EURenOmics consortium. The software can be used for case/control scenarios or trio analyses. It can be applied for cancer studies as well as rare disease research.
Variants will be associated with Genomatix’ extensive genome annotation and can then be filtered using various scores and annotation like diseases, tissues or pathways. This enables users to quickly reduce millions of variants to the few relevant ones using any combination of filters. Filter settings can be stored to enable users to generate their own set of individual preferences for various scenarios (e.g. different diseases, genotypes or score thresholds). The software also comes with an integrated genome browser that allows the visualization of mapped reads and an interface to the Genomatix Pathway System, where users can find the networks or pathways of affected genes.
Here is a movie showing a trio analysis of a family where a child was diagnosed with LCA (a severe dystrophy of the retina):
The software has already been used within EURenOmics for trio analyses of renal diseases.
All members of EURenOmics can use the software to analyze consortium data from exome or whole genome sequencing.