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 #4: Mastermind has 108X the number of full-text articles found in ClinVar
ClinVar utilizes a crowd-sourcing model for variant collection that doesn’t have the ability to prioritize supporting evidence from the medical literature. An individual or clinical laboratory that submits a variant to ClinVar is not required to provide supporting evidence for their interpretation; only the criteria they used. That ‘criteria’ may be standardized, but it also may be part of their own proprietary workflow. As a result, 33% of the variants in ClinVar lack references entirely, and when references are provided, they are often false-positives in the sense that they do not contain the variants they are intended to support .
The most commonly cited reference in the ClinVar database is the Sherloc refined criteria for ACMG-style variant interpretation, which is the only reference for 55% of the variants with at least one reference . This paper is cited within ClinVar only to specify the criteria the submitter used to interpret the pathogenicity of the variant, not to serve as a reference for the variant itself. This represents a severe lack of supporting evidence, and makes variant interpretation with ClinVar a “black box”; without the empirical evidence, it’s impossible to know how any interpretation was produced, let alone to verify it.
Figure 1. Supporting evidence in ClinVar vs. Mastermind
In contrast, Mastermind contains the most complete and up-to-date collection of genomic literature, allowing all users to begin the interpretation process with the same comprehensive corpus of the medical literature as a foundation. This not only ensures that variant interpretations are more consistent, but that they are more accurate due to the assurance that no article is left behind.
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 7,859,919 full-text articles indexed. ClinVar has 78,712 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
- “Downloads/FTP Site” ClinVar, http://clinvar.com/. Accessed 24 August 2020.” Human genetics (2020).