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Genomenon Integrates ClinVar Data into Mastermind to Support Clinical Decision-Making

September 7, 2022 Ann Arbor, MI

Genomenon Integrates ClinVar Data into Mastermind to Support Clinical Decision-Making

Patient Variant Information Submitted to NIH Now Accessible Through Mastermind Genomic Search Engine

Genomenon® Inc., an AI-driven genomics company, has integrated all the variants and pathogenicity interpretations from the ClinVar database into the Mastermind® Genomic Search Engine. This integration combines patient variants found by genetic testing labs and submitted to ClinVar with the scientific evidence for these variants found across the entirety of medical literature, all in a single Mastermind search.

ClinVar is a public archive of data submitted by genetic testing labs on the relationships between medically important genetic variants and their clinical characteristics found in patients. Sponsored by the National Institutes of Health (NIH), ClinVar is widely used by genomic analysts involved in clinical variant interpretation—a process that identifies disease-causing genetic variants in patient DNA to help clinicians make critical diagnostic decisions.

Genomenon’s Mastermind supports variant interpretation efforts for genetic disease by using AI (Artificial Intelligence) to connect patient genetic data with relevant evidence from scientific literature. As the world’s most comprehensive genomic search tool, Mastermind has indexed nearly 9 million publications containing over 19 million genetic variants, including about 18 million variants found in the medical literature but that are missing from the ClinVar database. Mastermind is used by over 2,000 diagnostic labs and integrated into 18 clinical-grade decision support platforms and reference databases across the globe.

As a result of this integration, all variants, pathogenicity interpretations, and other key information within ClinVar’s database are included as part of Mastermind’s comprehensive body of evidence. This means that clinical users of Mastermind can keep their workflow contained within a single easily searchable interface and will no longer have a need to navigate ClinVar separately. By streamlining variant interpretation in this way, this integration will accelerate diagnosis and enrich clinical reporting with actionable insights not found in ClinVar. The integration will also allow searchers to identify evidence in Mastermind that is otherwise missing from ClinVar, with the potential to change patient diagnoses and ensure proper treatment.

Mastermind delivers two significant advancements in ClinVar usability: First, Mastermind provides all the scientific evidence for a variant required to support diagnostic decisions—evidence that is often missing in ClinVar. Second, Mastermind improves the accessibility of ClinVar data by allowing users to easily search using any variant nomenclature, which can lead to finding more evidence. By providing more high-quality data than any other source—and making that data easier to find—searching Mastermind ensures precision, increases productivity, and saves time, all for the purpose of a speedy and more accurate patient diagnosis.

“The integration of ClinVar data into Mastermind makes genomic analysis for clinical decision support faster, easier, and more effective,” said Mike Klein, CEO of Genomenon.
“With the most comprehensive source of genomic information at their fingertips, Mastermind users will be able to quickly view the evidence needed to make a genetic diagnosis and provide a path forward for patients.”

Genomenon is a genomics intelligence company dedicated to improving the quality of life of genetic disease and cancer patients by making genomic information actionable. Blending the power of AI with the precision of genomic expertise, the company empowers pharmaceutical companies and the clinical diagnostic community with empirical genomic evidence and insights that both support the development of novel therapeutics and speed diagnostic assessments and treatment recommendations.

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