Mastermind is the most comprehensive source of genomic evidence by a wide margin. But don’t just take our word for it…
In this “Just the Facts” blog series, we present the facts and (more importantly) why it matters. Mastermind is the only Genomic Search Engine, searching beyond title and abstract into the full text of every published genomic paper covering every therapy, phenotype, disease, gene, and variant, and identifying the Genomic Associations between them that enable variant scientists to resolve more variants of unknown significance (VUS).
Updated with newly published research each week, Mastermind has far surpassed every manually curated variant database in its breadth and depth of content. In fact…
Fact #7: Mastermind’s Free Version is Updated Weekly while HGMD’s Free Version is 3 Years Out of Date1
HGMD’s potential is limited as a useful source for genomic evidence from the outset. Many users lack the funding to purchase a license to the full version of HGMD; with the free version, users are limited to using out-of-date information that could substantially impact the effectiveness of variant interpretation. After all, new research is being published at an unprecedented speed, and 3 years could entirely change the narrative surrounding any variant. For complete, accurate and well-supported variant interpretation, a comprehensive dataset of the current medical literature is necessary, and this is not provided by the free version of HGMD.
Another limitation for the free version of HGMD is the requirement that users be a part of the academic community. This excludes users or groups without an academic affiliation that would otherwise benefit from its use. One such group is the rare disease community. Those that suffer from rare disease or advocate on behalf of those that do must stay up to date on the latest research to receive information on proper diagnosis and treatment. Even if these individuals were granted access to the free version of HGMD, they wouldn’t be able to discover or utilize research until it was 3 years old.
At Genomenon, we believe that all genomic publications should be available to search and find to advance the practice of precision medicine. With Mastermind Basic Edition, no-one is excluded from the comprehensive source of genomic information that Mastermind has to offer.
The Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis and increase diagnostic yield, and is the most comprehensive and up-to-date source of genomic evidence.
- Chunn LM, Nefcy DC, Scouten RW, Tarpey RP, Chauhan G, Lim MS, Elenitoba-Johnson KSJ, Schwartz SA and Kiel MJ (2020) Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation. Front. Genet. 11:577152. doi: 10.3389/fgene.2020.577152 13 November 2020