The existence of LSDB data is now discoverable through Cafe Variome. These variants come primarily from the LOVD system, however, other LSDB systems are welcome and encouraged to share the existence of their data via Cafe Variome. Please contact us if you wish to discuss any aspect of this.

Variants identified by the FORGE Canada Consortium are now discoverable through Cafe Variome.

"FORGE Canada (Finding of Rare Disease Genes) is a national consortium of clinicians and scientists using next-generation sequencing technology to identify genes responsible for a wide spectrum of rare pediatric-onset disorders present in the Canadian population. The FORGE Canada project was launched on April 1, 2011."

http://www.cpgdsconsortium.com/AboutUs.aspx

The 1000 genomes/phase 1 - March release data is now available for discovery through Cafe Variome.

This data has been converted by the NGRL Manchester (NGRL.contact@cmft.nhs.uk) to include HGVS nomenclature and was created for clinical use in the analysis of diagnostic variants. All use of 1000 genomes data must be in accordance with the 1000 genomes data release policy (http://www.1000genomes.org/data#DataUse)

The latest version of Alamut allows users to generate variant reports in the Cafe Variome format which can then be passed onto Cafe Variome for submission. See the following instructions for further details.

The updated version of Gensearch (build 4.0.4) has been released with updated and more sophisticated functionaltiy for submitting variants to Cafe Variome. Users of Gensearch should use the following simple instructions in order to prepare their installation for submission.

To allow viewing of Cafe Variome variants in popular genome browsers a DAS source and DAS Registry entry have been created.

11:45am - Conference Room, Arts Centre 7th September

See program for details

A data collaboration with the Human Gene Mutation Database has been agreed to enable discovery of HGMD public variants via Cafe Variome.

Download the poster.