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 #2: Mastermind has 8X the Number of Variants Found in ClinVar[1]

ClinVar is a crowd-sourced model for variant collection that is dependent on users submitting variant data found in patient sequencing.

One of the main challenges produced by ClinVar’s model is managing the heterogeneity of variant interpretations; submitters are not required to follow a standard set of interpretation guidelines, nor to attach any supporting evidence. A full 33% of the variants in ClinVar lack references, and of those that do have references, many are false positives in the sense that they do not contain the variant they are intended to support [2]. This significant lack of supporting evidence ultimately prevents independent validation of variant interpretations.

In contrast, Mastermind does not require users to submit data, instead providing users with a comprehensive dataset of the medical literature, pre-annotated with genetic content. Mastermind is not simply a repository of user submitted information like ClinVar – it’s a functional variant interpretation tool that assists clinical laboratories in sufficiently supporting their interpretations. This approach rectifies the issues in sensitivity and the provision of supporting evidence that ClinVar faces.

With AI-driven computational techniques, Mastermind is readily scalable as the medical literature continues to increase in size, something that ClinVar has been unable to demonstrate even with the use of crowd-sourcing.

Figure 1: Number of Variants Indexed by Year in Mastermind and ClinVar

ClinVar has built a database of 844,391 variants over a 9-year period, whereas Mastermind has over 6.8 million variants in only 4 years [1, 3-5]. Mastermind is the most comprehensive source of genomic evidence, and is not limited by issues in sensitivity or lack of supporting evidence.

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. “Statistics” ClinVar, http://clinvar.com/. Accessed 8 September 2020.
  2. “Downloads/FTP Site” ClinVar, http://clinvar.com/. Accessed 24 August 2020.
  3. Landrum, Melissa J, and Brandi L Kattman. “ClinVar at five years: Delivering on the promise.” Human mutation vol. 39,11 (2018): 1623-1630
  4. Landrum, Melissa J et al. “ClinVar: improving access to variant interpretations and supporting evidence.” Nucleic acids research vol. 46,D1 (2018): D1062-D1067.
  5. Landrum, Melissa J et al. “ClinVar: public archive of interpretations of clinically relevant variants.” Nucleic acids research vol. 44,D1 (2016): D862-8.