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 #6: Mastermind has Indexed 2,018,138 Supplemental Data Sets1*
The supplemental datasets for an article often contain variants or detailed clinical characteristics that are not mentioned in the full text. In fact, there are over 1 million variants that are ONLY cited in the supplemental data in Mastermind!
When searching sources like Google Scholar, it is difficult and often impossible to determine whether a particular paper might have meaningful content housed in supplemental files, particularly for very large sequencing studies where fitting the total dataset within the article is not possible.
Supplemental files do not conform to a standard format, and any one paper might have several disparate supplemental files that would need to be downloaded and evaluated individually on different platforms.
These issues lead to variant scientists missing vital information that is only located in the supplemental data.
This is particularly concerning for rare variants, which may only be mentioned once in the entirety of the medical literature. If that one mention happens to be within a supplemental file, clinical laboratories are even less likely to discover that information. Manual methods like those utilized by the Human Gene Mutation Database (HGMD) are not conducive to searching through these files. In fact, without downloading the files themselves and searching through them, this information is completely inaccessible to standard search tools.
Figure 1: Search example in Mastermind.
The Mastermind genomic search engine is not a standard search engine. Mastermind automatically indexes supplemental files from articles determined to contain genetic content and systematically extracts variant information. This ensures that no information is overlooked, including rare variants which may only be mentioned in supplemental files.
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.
NOTE: * As of 11/13/2020 Mastermind now has 2,599,660 supplemental datasets indexed.
- 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