VarSome Premium is a subscription service allowing you to access additional 3rd party annotation data resources and features without any delays.
Currently, the available resources are:
- AACT Clinical Trials from clinicaltrials.gov
- Pharmacogenomics Knowledge Base (PharmGKB)
- Polyphen-2 scores by Harvard University
- COSMIC by the Sanger Institute (license needed by non-academic institutions)
- CADD scores by the University of Washington
- Clinical Pharmacogenetics Implementation Consortium (CPIC)
- The Drug-Gene Interaction Database (DGIdb)
Once your subscription is completed, you will be able to locate all the premium resources in all VarSome entries that have corresponding information in the databases mentioned above.
The gene-related resources shown at VarSome Premium correspond to the AACT, PharmGKB, DGI, and CPIC databases. For example, looking at the CFTR gene, which has available information from AACT, PharmGKB, DGI, and CPI, they can all be accessed through the overview menu at the right side of the gene page:
The variant-related resources correspond to the PharmGKB database, the Polyphen-2 scores, and the CADD scores.
For example, looking at the variant BRAF:N581K, the CADD score, and the Polyphen-2 scores will be located in the Pathogenicity scores section.
The PharmGKB information of a variant, if available, can also be accessed from the overview menu at the right side of the page, as shown below for the variant BRAF:p.V600E:
The COSMIC database can be accessed at the Cancer Databases section:
Although the COSMIC resource is available under VarSome Premium, the user still needs to obtain a license from COSMIC, which is free of charge for academic use. Contact us for details