enGenome at ASHG 2021 Virtual Meeting
6 October 2021

enGenome is excited to be a part of the American Society of Human Genetics 2021 annual meeting!

You will have the chance to meet our experts at our virtual stand and schedule a demo of eVai, the expert variant interpreter.

On-Demand CoLab Session: Variant interpretation with DIVAs & eVai
Beyond the “one gene, one disease” paradigm

Speakers: Susanna Zucca, PhD, CSO & Jeffrey Anderson, Foreign Sales Representative

Register for the event

enGenome provides an interplay of hands-on experience and software technology for the analysis and interpretation of sequencing data in clinical and research settings.

We are passionate about delivering the most accurate genomic interpretation required to diagnose and treat rare genetic diseases.

During this session our CSO, Susanna Zucca, 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.

Jeffrey Anderson, our Foreign Sales Representative, will continue the session presenting eVai, our flagship variant interpretation software.

eVai 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 Jeffrey 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.

ASHG Virtual Booth

Visit our virtual stand from October 18th to 22nd!

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