enGenome at SIGU 2021 Virtual Meeting
15 November 2021

The SIGU 2021 National Congress is approaching and we are pleased to inform you that we’ll present a live session on November 17 at 4:10pm!

Follow enGenome to find out what’s new about eVai, the platform for genomic variant interpretation, and learn more about the R&D product, DIVAs: the digenic variant interpreter.

Live Session: eVai e DIVAs: oltre l’ereditarietà mendeliana

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

Moderator: Ettore Rizzo, PhD, CEO

Join the event

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.

ON DEMAND: DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity of digenic variant combinations: a case study on ciliopathies

Speaker: Federica De Paoli, Bioinformatician at enGenome

Watch on demand session

SIGU Virtual Stand

Visit our virtual stand from November 17th to 19th!

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