eVAI: the Expert Variant Interpreter

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

Problem

The high number of Variants of Unknown Significance (VUS) generated by NGS-based tests reduces the diagnostic yield. To address this problem, ACMG-AMP have developed standard guidelines for clinical interpretation, but their effective application is challenging because of the quantity and complexity of the genomics and clinical information that should be integrated and systematically evaluated.

Our Solution

The Expert Variant Interpreter (eVAI) is our proprietary software built with the aim to support medical geneticists in the pathogenicity assessment of genomic variants.


  • Transparent guideline-based prediction


  • Accurate disease-driven classification


  • Comprehensive omics data integration


  • Knowledge-based unbiased interpretation

Transparent guideline-based prediction

Based on ACMG/AMP guidelines, eVAI integrates artificial learning and knowledge base expert systems in order to automatically generate rule-based pathogenicity variant predictions that are easily human-readable.

Each genomic variant is predicted according to the ACMG/AMP five-tier classification system. Predictions are justified by evidence data that are shown in a transparent way.

Testimonials

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