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 #5: Mastermind has 88X the Number of Full-Text Articles Found in HGMD1*
HGMD’s variant collection model begins with a manual, time-consuming curation process. This involves first identifying relevant articles among the entire corpus of the medical literature, something that is immensely difficult due to the sheer amount of articles indexed by PubMed in a single year. For example, in 2019, PubMed indexed over 1,366,447 new articles, only about 25% of which had genetic content 2. This is in addition to the size of the existing literature, which comprises a staggering 30 million articles. By any manual process, addressing the backlog of previously published research while keeping up with the rate at which new research is being published would be impossible.
Another challenge with HGMD is that it is plagued by sensitivity issues; many articles are left out of the curation process simply due to time constraints and the difficulty of recognizing whether any particular article will be meaningful. This is concerning, as any article not addressed has the potential to alter a variant interpretation substantially; in order to produce the most accurate interpretations, a comprehensive set of the literature with genetic content is necessary.
Figure 1: Number of Full-Text Scientific Articles Indexed in Mastermind and HGMD as of 07/07/2020.
Mastermind’s computationally intelligent techniques allow for automated indexing of the entire medical literature, pre-annotated by therapy, phenotype, gene, variant, and disease. This resolves the issues that arise due to HGMD’s manual approach; all relevant articles have already been identified and annotated to provide the truly comprehensive foundation for curation that HGMD lacks.
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.
Read the previous Just the Facts blog
NOTE: * As of 11/13/2020 Mastermind now has 7,859,919 full-text articles indexed, HGMD has 86,000 full-text articles referenced.
- 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
- Stenson, Peter D et al. “The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.” Human genetics (2020).
- “MEDLINE PubMed Production Statistics” National Library of Medicine https://www.nlm.nih.gov/bsd/medline_pubmed_production_stats.html