Genomenon introduced the newest version of its Mastermind Genomic Intelligence platform, which includes a catalog of curated information on gene-disease relationships, at the American Society for Human Genetics (ASHG) Conference in Washington, DC.  Mastermind 3.0 provides more than 9,000 of these gene-disease relationships across 5,500 genes.

This version of the platform features gene-level curations, based on ClinGen recommendations, that are intended for the analysis and interpretation of data from large panels, whole exomes, and whole genomes. 

Earlier this year, Genomenon acquired Boston Genetics, a genomics interpretation and duration company, with an eye toward leveraging its knowledge platform and the expertise of Boston Genetics’ team of scientists to accomplish its genome curation goals. The company also beefed up its commercial leadership team this year to better support its growth in the clinical diagnostic and pharmaceutical market. 

“Mastermind 3.0 represents a significant step toward better understanding of the relationship between genes and diseases,” according to Mark Kiel, MD, PhD, Genomenon co-founder and chief scientific officer.  “The latest release of our platform represents a significant milestone in our work to curate the human genome and simplify complex genetic data into actionable insights.”

Although it’s only just been released, expectations are high for Mastermind 3.0 among Genomenon’s current customers. “At Intermountain, we use precision genomics as a tool to provide tailored genomic information to our providers and patients. We glean these genomic insights using the Mastermind Platform, which is already a part of our workflow,” Natalie Peer, PhD, variant scientist at Intermountain Health, said in a statement. “Now with Mastermind 3.0, we’ll have canonical transcripts and curated variants associated with a specific disease all in one place. This empowers our team to increase our efficiencies and our impact, and ultimately, supports our mission in helping people live the healthiest lives possible.”

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