Mastermind Update: Non-Coding Variant Precision and Prioritization

Mastermind now has greatly enhanced capabilities when searching for intronic and non-coding variants across the medical literature. I’m covering this major enhancement in two blog posts. In this post, I’ll demonstrate how we’ve applied this approach to improve the precision and prioritization of non-coding variant (and other nucleotide-specific variant nomenclature) searches in Mastermind.

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Sensitivity versus Specificity for Non-Coding Variants

With our update on June 10, 2020, Mastermind now has greatly enhanced capabilities when searching for intronic and non-coding variants across the medical literature. I’m covering this major enhancement in two blog posts. This first post explains the “why” of the update, the second goes into detail about the “what”.

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