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 #3: Mastermind contains articles from 33,147 journals compared to only 3,100 for HGMD[1]

The Human Gene Mutation Database (HGMD) relies on a manual process of identifying relevant articles from a small selection of journals and other sources like PubMed and Google Scholar. In 2019, PubMed indexed 1,366,447 new articles, about 25% of which had genetic content [2]. Keeping up the pace of evaluating each new article to identify the ones with genetic content is impossible with a manual process. HGMD’s answer to this problem is to focus on a subset of journals that have been determined to be high-yield in terms of genetic content. This approach leads to a lack of coverage (and therefore sensitivity) that will only be compounded as the number of articles published every year continues to increase. This lack of coverage causes variant scientists using HGMD to be limited to only a small portion of potentially relevant articles.

In contrast, Mastermind looks at all potentially relevant journals (at this time, 33,147) and uses computational intelligence to index and identify articles with genetic content automatically. Mastermind has identified genetic content in 10.7X more journals than HGMD, representing a massive increase in sensitivity. This enhanced sensitivity ensures that variant interpretation is based on a comprehensive understanding of the medical literature, and ultimately serves to improve the accuracy and timeliness of patient diagnosis.


Figure 1: Number of Articles from Journals

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

Read the previous Just the Facts blog

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

  1. Stenson, Peter D et al. “The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.” Human genetics (2020).
  2. “MEDLINE PubMed Production Statistics” National Library of Medicine https://www.nlm.nih.gov/bsd/medline_pubmed_production_stats.html