Genomenon announced a milestone in its journey to curate the human genome with the release of Mastermind 3.0, now including the clinical exome fully curated at the gene level, the company says. 

With this launch, Genomenon says it is delivering a comprehensive catalog of more than 9,000 gene-disease relationships across 5,500 genes, with more being added each week. These curations, based on ClinGen recommendations, are useful to accelerate novel variant curation, especially in large panels, whole exomes (WES), and whole genomes (WGS). The company curates the clinical exome at the gene level based on ClinGen guidelines, which are considered the highest industry standard, according to Genomenon.

As next-generation sequencing technology advances, whole exome and genome testing is quickly replacing less comprehensive methods to identify disease in patients. With the benefit of this extensive data comes a sharp increase in the volume of test results to analyze, which can be an onerous process for many traditional tools to support. The Mastermind Genomic Intelligence Platform, previously Genomic Search Engine, was built to help clinical laboratories handle the increased volume and complexity of these results.

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“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 powerful part of our workflow,” says Natalie Peer, PhD, variant scientist at Intermountain Health. “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.”

Mastermind’s new Gene Information Page now puts comprehensive gene information all in one place for genomic scientists, so they can find the answers they need from just one platform, the company says. The software provides the most comprehensive picture of human genomics, with over 23 million variants indexed, an indispensable resource that significantly diminishes the risk of overlooking evidence critical for patient diagnosis. 

“Mastermind 3.0 represents a significant step toward better understanding of the relationship between genes and diseases, all in a powerful and easy-to-use interface,” says Mark Kiel, MD, PhD, Genomenon co-founder and chief scientific officer.  “We created Mastermind almost a decade ago to address the pressing need for faster, more comprehensive variant interpretation for researchers. 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.”

Genomenon will be demonstrating Mastermind 3.0 at the American Society for Human Genetics (ASHG) Annual Meeting Nov. 2-4, 2023.

Featured image: Mastermind Gene Information Page. Image: Genomenon