We’re pleased to announce the most significant advancement to the Mastermind Genomic Search Engine since its launch: the ability to filter millions of genomic articles according to ACMG variant interpretation guidelines.

The latest release of Mastermind Professional Edition helps users to identify clinically relevant literature applicable to ACMG classification, which will accelerate and improve the accuracy of your variant interpretation.

If you use ACMG Interpretation Guidelines in your work,
this new tool will help you.

 

The biggest bottleneck in following ACMG interpretation guidelines is literature curation. It can often be subjective, and has been impossible to automate until now. We have worked with a number of development partners, including Veritas Genetics (read our recent press release), to develop this new capability. This new ACMG Interpretation Tool helps you get to the literature needed to classify variants by the ACMG guidelines much faster than before.

What the Mastermind ACMG Interpretation Tool Does

  • Filters the genomic literature for useful citations and presents them in a clear dashboard
  • Prioritizes the papers by relevance to the ACMG classification criteria
  • Provides the evidence needed for ACMG interpretation

Benefits of the ACMG Tool

Faster Variant Interpretations

You likely have experienced how difficult it is to identify and cite relevant literature within your clinical reports. Adding ACMG classification to Mastermind will accelerate the work of anyone who uses the standards.

  • Classifies reference relevance (Strong/Moderate/Supporting)
  • Provides a prioritized list of references based on content (for instance, papers that focus on in vivo functional studies for PS3 designation can be filtered and prioritized)
  • Shows you the sentences where the functional studies are discussed within the Mastermind interface itself…no need to go to another source

Fewer Inaccurate Calls

If there’s any evidence in the literature about a variant, Mastermind will help you find it. The ACMG tool provides more useful coverage of references needed to accurately interpret variants than any other commercial database.

  • If there are few articles for a rare variant, Mastermind finds the papers that are hard to find (the needle in the haystack). The result is that you will have fewer missed references.
  • If there is an abundance of articles for a variant, Mastermind helps prioritize them (separating the wheat from the chaff). The result is that you will find the most meaningful papers faster.
  • We provide all citations, not just the first, which has little insight into subsequent publications.

In short, you’ll get fewer VUS (variants of uncertain significance) because you will have the full breadth of evidence at your disposal.

The ACMG Interpretation Tool is now live
in Mastermind Professional Edition.
Click here to Try Mastermind

This update is a big step towards expediting the most challenging part of genome interpretation: literature curation and we are making steady advances month after month. If you’d like to be notified of future updates by joining our mailing list or want to learn how we can help accelerate your workflow, contact us.

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