ESHG 2021: Enhance your NGS variant analysis
24 August 2021

ESHG Virtual Conference 2021

Join us for our corporate satellite session, 28 August 2021

eVai, the Expert Variant Interpreter, is a CE IVD software developed by enGenome to support geneticists in interpreting genomic variants with accuracy and speed. The software automatically applies ACMG guidelines to classify genomic variants, takes into account family segregation and reduces the burden for variants of unknown significance (VUS). Driven by a hypothesis free approach, eVai classifies and prioritizes every genomic variant of a patient (SNVs, INDELs and CNVs) and suggests the possible related genetic diagnoses.  

During this session we will focus on how eVai evaluates Copy Number Variants (CNVs) according to the latest ACMG/ClinGen guidelines and how sequencing/alignment artifacts can be excluded from the analysis.

To conclude, we will present our latest research tool: DIVAs, the Digenic Variants Interpreter, a machine learning algorithm able to evaluate the pathogenicity for a combination of candidate variants on two different genes to support, pure digenic, modifiers-mediated or dual diagnosis hypothesis.