Enhanced Search for Non-Coding Variants in Mastermind Genomic Search Engine Solves Industry-Wide Challenge
Genomenon’s latest release of the Mastermind® Genomic Search Engine includes enhanced search for intronic and non-coding variants across the medical literature. Mastermind users now receive more specific results when searching the comprehensive database of genomic evidence.
Intronic and non-coding variants are notoriously difficult for geneticists and variant scientists to find with search tools like Google or Google Scholar. 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 the latest release of the Mastermind Genomic Search Engine, Genomenon increased the specificity of the intronic and non-coding variant search results by prioritizing nucleotide-specific descriptions within the search results. This provides the user with optimal specificity while maintaining maximal sensitivity. By searching at the nucleotide level for non-coding variants, users 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.
Genomenon has always striven to balance sensitivity and specificity in search, which has consistently yielded better results than other methods. One example is a user of Mastermind who was searching for an intronic deletion. Before Mastermind, they had never found any evidence citing this variant for a cancer patient. However, the sensitivity of the Mastermind search returned a previously undiscovered article. This new approach to prioritization will further optimize these types of searches.
This new feature furthers Genomenon’s position as the leading genomic search engine in the market – making it easier for geneticists, variant scientists, and researchers to comprehensively search across the scientific literature for every mention of a patient’s variant.
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.
