With absolutely tons of publication data out there, finding relevant information about your variants and genes of interest can be a struggle. We’ve been working with Genomenon to integrate Mastermind, the Genomic Search Engine, into VEP results, bringing you publication data about genes, variants, phenotypes, diseases and therapy evidence.
Mastermind is available in the VEP online interface, on the REST API and for the offline tool. You will find Mastermind in the ‘Phenotype data and citations’ section of the web interface.
If you use this option your results will include a column entitled Mastermind, which contains links that look like KCNK3:E182K, which take you to a page on the Mastermind website. This page includes links to publications where you can find out more about this variant.
If you’re working with the offline tool, you will need to install the Mastermind plugin and the Cited Variants Reference (CVR) for either GRCh37 or GRCh38. The output from the offline tool and the REST API will contain the Mastermind gene keys like KCNK3:E182K. You will be able to search for these to find them on the Mastermind website, or construct URLs in the form:
https://mastermind.genomenon.com/detail?gene=kcnk3&mutation=kcnk3:E182K
You can also search Mastermind by genomic coordinates using GRCh37 coordinates, such as: