enGenome at SIGU 2022 in Trieste
5 September 2022

Come join us at the XXV Congresso Nazionale SIGU in Trieste, on September 9th at 13:30pm, as we discuss how enGenome is excelling in providing variant interpretation in a more intuitive and precise way.

Workshop: Le soluzioni enGenome per eccellere nell'interpretazione delle varianti genomiche

Speakers: Ivan Limongelli, PhD, CTO & Susanna Zucca, PhD, CSO

Moderator: Ettore Rizzo, PhD, CEO

Join the event

During the symposium, Ivan Limongelli (CTO of enGenome), will show how eVai allows you to interpret the genomic variants intuitively and accurately and will present the new Suggested Diagnosis functionality. Thanks to it eVai now allows you to apply an additional artificial intelligence layer to simultaneously process genomic, family and phenotype data of a patient and suggest the most likely clinical diagnosis.

Finally, Susanna Zucca (CSO of enGenome), will present DIVAs: the Digenic Variant Interpreter. DIVAs is an R&D tool that, thanks to an innovative approach based on artificial intelligence, identifies and interprets digenic variants based on the patient’s phenotype. The tool is able to evaluate the pathogenicity of combinations of variants present on two different genes, thus supporting geneticists in the interpretation of possible diagnoses of digenic pure, composite or dual diagnosis hypothesis.

SIGU Stand

Visit our stand #20 from September 7th to 9th!

Our team will be ready to answer your questions about eVai and our services.