Genomenon Announces the Next Advance in Genomic Interpretation

Genomenon Launches Mastermind v1.3 Genomic Search Engine for Faster, Streamlined Genomic Interpretation

ANN ARBOR, Mich., August 8, 2017 – Genomenon® Inc. announced version 1.3 of its Mastermind® genomic search engine that further accelerates genomic interpretation. This latest release has new tools to help clinicians quickly find authoritative research related to their patients genomic mutations and a new suite of solutions to help automate next generation DNA sequencing workflows.

While the cost of DNA sequencing continues to drop faster than Moore’s law would predict, the cost of interpreting the genomic data that comes from the sequencing remains stubbornly high. The reason: Investigating each genetic mutation and rendering a clinical interpretation is a time-consuming, labor-intensive task performed by highly trained molecular pathologists and geneticists.

A patient’s genome can have thousands of potentially disease-causing mutations and each takes on average over 20 to 30 minutes to research and interpret according to a study by the University of Washington. For each patient, this effort consumes hundreds of hours of time typically over an eight to twelve week period. Accelerating this process can deliver faster patient diagnosis at lower costs.

The bulk of this interpretation time is spent tracking down relevant research publications through search engines like PubMed or Google Scholar, which require searches on dozens of different ways mutations can be described by study authors, and still yield non-comprehensive results that are not organized for clinical interpretation.

Mastermind is a purpose-built genomic search engine designed to quickly find the research tied to human genetic variants. Mastermind understands the many ways an author can describe any disease, gene or mutation and delivers fast, comprehensive and prioritized insight into the genomic literature with a simple Google-like interface.

Mastermind version 1.3 further refines the search engine capability, streamlining the user interface to provide faster, deeper insight into the relevance of all the literature associated with any disease, gene or mutation. The latest release also includes a beta release of a new suite of tools – Mastermind Alerts, API and VCF file support.

Mastermind Alerts provide automated email alerts for newly published research mentioning genes and mutations specified by the user. Mastermind API provides an application programming interface (API) to search the Mastermind database for high volume automated workflows, and Mastermind VCF allows users to annotate entire patient data files (VCF files) with the number of literature citations found and direct links to further review the research for each mutation.