Today, Genomenon of Ann Arbor, MI, released an update to the Mastermind Genomic Search Engine that will significantly improve the quality of the search results for intronic and non-coding variants across the medical literature.
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Intronic and non-coding variants are notoriously difficult to find. Unlike missense variants, which sit in the coding region of a gene and can be described by the effect on the gene’s transcribed protein, intronic variants are much more difficult to search for because they have a less direct and well-understood biological effect.
With this release, we increased the specificity of the intronic and non-coding variant search results by prioritizing nucleotide-specific descriptions within the search results. This provides you with optimal specificity while maintaining maximal sensitivity. By searching at the nucleotide level for non-coding variants, you can now see the most specific results in the top articles returned by Mastermind. Broader sensitivity is delivered with similar intronic variants in the same region further down the search results. |
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Learn more about this update through the links below.
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 BLOG 1: Sensitivity versus Specificity for Non-Coding Variants
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Co-founder and CTO Steve Schwartz covers this major enhancement in two blog posts. In this first post, he explains the “Why” of the update with a description of how Mastermind balances Sensitivity and Specificity in search.
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BLOG 2: Non-Coding Variant Precision and Prioritization
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For detail-oriented minds, Steve explains the in-depth “How” of the update, describing how we’ve applied our approach to sensitivity and specificity to improve the precision and prioritization of non-coding variant (and other nucleotide-specific variant nomenclature) searches in Mastermind.
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About Genomenon
Genomenon is a genomic health IT company that connects patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases.
The Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results.
Mastermind Genomic LandscapesTM inform pharmaceutical and bio-pharma companies on precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.
Genomenon was named 2020 Global Company of the Year in Clinical Genomics Interpretation by Frost & Sullivan.
About enGenome
enGenome is a digital health company that provides the experience and software technology for the analysis and interpretation of genomic data in clinical and research settings, thus enabling healthcare providers to unleash the potential of Precision Medicine.
The eVai platform, created by enGenome, combines ACMG automation and variant prioritization to interpret genomic variants with an unprecedented accuracy and speed. eVai is a cloud-based platform CE IVD marked and used in the clinical routine for diagnosis purposes.
enGenome is an academic spin-off of the University of Pavia and leverages on its core competencies related to Bioinformatics and Artificial Intelligence to work toward the mission of delivering the most accurate genomic interpretation to diagnose and treat genetic diseases.
For more information, visit engenome.com
