eVAI: the Expert
Variant Interpreter

eVAI automates ACMG-AMP guidelines, reduces
the number of VUS and reports the supporting evidence.

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Our Solution

By combining artificial intelligence with ACMG-AMP guidelines, eVai classifies and prioritizes every genomic variant for pathogenicity, suggesting all the possible related genetic diagnosis. The accurate prioritization combined with an unique and extremely intuitive interface allows genetic experts to focus on the smallest interesting set of variants. Discover, for instance, how eVai improved variant pathogenicity assessment for cardiovascular related genes (Nicora et al, Human Mutation 2018).


  • Automated ACMG-driven prioritization


  • Family based analysis


  • Laboratory Knowledgebase


  • Omics resources integration

Automated ACMG-driven prioritization

Thanks to its artificial intelligence algorithm, eVai automatically pre-classifies every variant according to the international guidelines showing the activated ACMG criteria and the supporting evidences.

Moreover, eVai assigns a pathogenicity score even for variants of unknown significance (VUS), allowing genetic experts to re-evaluate the most promising ones.

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