ESHG 2022 – enGenome Solutions for Excellence in Variant Interpretation
27 May 2022

ESHG Hybrid Conference 2022

Join us for our corporate satellite session,

11 June 2022, 10.00 – 11.30 CEST - Room N1+2 ACV Level 1


Program overview: eVai, the Expert Variant Interpreter, is a CE-IVD software developed by enGenome to support geneticists with interpretation of germline variants. eVai classifies and prioritizes a patient's genomic variants (SNVs, INDELs and CNVs) and suggests possible genetic diagnoses.

During the Corporate Satellite Ivan Limongelli (enGenome CTO), will show how eVai interprets variants in an intuitive and accurate way. Attention will be given to the analysis of Copy Number Variants (CNVs) according to the latest ACMG/ClinGen guidelines.

To conclude, Susanna Zucca (enGenome CSO), will present DIVAs: the Digenic Variant Interpreter. DIVAs is a tool in beta-testing that identifies and interprets digenic variants with artificial intelligence based on a patient's phenotype.