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Genomenon Partners with enGenome to Improve Variant Interpretation Accuracy and Speed

May 12, 2020 ANN ARBOR, MI

Genomenon Partners with enGenome to Improve Variant Interpretation Accuracy and Speed

enGenome Integrates Mastermind Genomic Search Engine into eVai Variant Interpretation Platform

Genomenon® announced a partnership with enGenome, which includes integration of the Mastermind® Genomic Search Engine into the eVai Variant Interpretation platform. eVai users can now preview the number of published articles related to their search and easily link out to view the evidence in Mastermind.

Genomenon’s Mastermind is the world’s only comprehensive genomic search engine, connecting patient’s genomic data with evidence from the scientific literature – a key requirement in analyzing a patient’s DNA in precision medicine for cancer and genetic diseases. Mastermind has indexed over 7.5 million full text articles and 1.5 million supplemental data sets and covers over 6.1 million variants found in the medical literature.

By combining artificial intelligence with ACMG-AMP guidelines, eVai classifies and prioritizes every genomic variant for pathogenicity, suggesting all the possible related genetic diagnoses. The accurate prioritization combined with an unique and intuitive interface allows researchers to focus on the smallest interesting set of variants.

“Integrating Mastermind into eVai gives our users access to the premier source of genomic association data, which is an essential element of variant interpretation.” Said Dr. Ettore Rizzo, CEO of enGenome. “We are thrilled to be partnering with Genomenon in this way, particularly since we both use A.I. in ground-breaking ways.”

“We’re excited to partner with enGenome to put the most comprehensive and up-to-date genomic research in the hands of geneticists and researchers performing genomic analysis.” said Mike Klein, CEO of Genomenon. “Our relationship extends Mastermind’s global reach, and coupled with eVai, provides significant value in cutting turnaround time and increasing diagnostic yield for genetic labs.”

Read our blog post on how to find Mastermind genomic evidence from eVai.


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.


enGenome is a digital health company that provides the experience and software technology for the analysis and interpretation of genomic data in clinical and research settings, thus enabling healthcare providers to unleash the potential of Precision Medicine.

The eVai platform, created by enGenome, combines ACMG automation and variant prioritization to interpret genomic variants with an unprecedented accuracy and speed. eVai is a cloud-based platform CE IVD marked and used in the clinical routine for diagnosis purposes.

enGenome is an academic spin-off of the University of Pavia and leverages on its core competencies related to Bioinformatics and Artificial Intelligence to work toward the mission of delivering the most accurate genomic interpretation to diagnose and treat genetic diseases.

For more information, visit engenome.com

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