Live Session: eVai e DIVAs: oltre l’ereditarietà mendeliana
Speakers: Ivan Limongelli, PhD, CTO & Susanna Zucca, PhD, CSO
Moderator: Ettore Rizzo, PhD, CEO
eVai, the Expert Variant Interpreter, is a CE IVD software developed by enGenome to support geneticists in the interpretation of Mendelian genomic variants. Guided by a hypothesis-free approach, eVai classifies and prioritizes a patient’s genomic variants (SNVs, INDELs, and CNVs) and suggests possible related genetic diagnoses.
During the SIGU symposium Ivan Limongelli (Chief Technology Officer of enGenome), will show how eVai interprets variants in an intuitive and accurate way. He will also show how to evaluate Copy Number Variants (CNVs) according to the latest ACMG/ClinGen guidelines and how sequencing/alignment artifacts can be excluded from the analysis.
To conclude, Susanna Zucca (Chief Scientific Officer of enGenome), will present DIVAs: the digenic variant interpreter. DIVAs is a tool in R&D that uses artificial intelligence to identify and interpret digenic variants based on a patient’s phenotype. The tool is able to evaluate the pathogenicity of combinations of variants present on two different genes.