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 phenotype, disease, gene, and variant, and identifying the Genomic Associations between them that enable variant scientists to resolve more VUS’s.

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 #1: Mastermind has 23.6X More Variants than HGMD

The Human Gene Mutation Database (HGMD) is built on a manual curation process that is both time-consuming and lacking in sensitivity. As a result, HGMD has a limited set of references for variant interpretation; a concern when any reference has the potential to alter variant interpretation from uncertain significance (VUS) to likely pathogenic/pathogenic. The manual curation process also limits the total number of variants that HGMD contains, slowed by the speed at which variant scientists can manually interpret a variant.

What was a manageable manual curation process 20 years ago has now become an intractable problem. You can’t hire enough scientists to keep up with the newly published genomic research, let alone sufficiently address the massive backlog of uncurated literature. A new, computational approach to finding published genomic associations is needed to ensure accurate and timely patient diagnosis in the clinic, especially for rare variants which are documented less frequently in the literature.

Mastermind uses Computational Intelligence to find genomic associations across the full corpus of published literature, and is infinitely scalable as the medical literature continues to increase in size. Through these techniques, Mastermind has indexed over 6.8 million variants in less than 6 years, whereas HGMD has manually curated 289,346 over 25 years [1-12]. Mastermind is not only the most comprehensive source for genomic evidence, it is also built on a variant collection model that readily scales to address the growing corpus of genomic research.

Figure 1: Number of variants indexed by year, Mastermind and HGMD

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.

Learn more about Mastermind

 

NOTE: The stats featured in this post come from the paper “Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation”, pre-published, Chunn et al.

References

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  3. Stenson, Peter D et al. “The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.” Human genetics vol. 133,1 (2014): 1-9.
  4. Stenson, Peter D et al. “The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.” Current protocols in bioinformatics vol. 39,1 (2012): 1.13.1-1.13.20
  5. Stenson, Peter D et al. “The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.” Human genomics vol. 4,2 (2009): 69-72.
  6. Stenson, Peter D et al. “The Human Gene Mutation Database: 2008 update.” Genome medicine vol. 1,1 (2009).
  7. Stenson, P D et al. “Human Gene Mutation Database: towards a comprehensive central mutation database.” Journal of medical genetics vol. 45,2 (2008): 124-6.
  8. Stenson, Peter D et al. “Human Gene Mutation Database (HGMD): 2003 update.” Human mutation vol. 21,6 (2003): 577-81.
  9. Krawczak, M et al. “Human gene mutation database-a biomedical information and research resource.” Human mutation vol. 15,1 (2000): 45-51.
  10. Cooper, D N et al. “The human gene mutation database.” Nucleic acids research vol. 26,1 (1998): 285-7.
  11. Krawczak, M, and D N Cooper. “The human gene mutation database.” Trends in genetics : TIG vol. 13,3 (1997): 121-2.
  12. Cooper, D N, and M Krawczak. “Human Gene Mutation Database.” Human genetics vol. 98,5 (1996): 629.