eVAI: the Expert
eVAI automates ACMG-AMP guidelines, reducesthe number of VUS and reports the supporting evidence.
“Thanks to eVAI, we greatly accelerated the process of variants interpretation from whole exome sequencing
data in patients with neurodegenerative diseases, improving their course to diagnosis and possible therapy.”
"The meaningful and constantly up-to-date variant annotation, combined with the ACMG guideline based variant classification, makes eVAI a valuable tool to support variant pathogenicity assessment."
“Thanks to enGenome’s solution we are able to fast prioritize genomic variants from whole exome sequencing data in patients with neurological disorders and identify pathogenic variants in genes that have not been yet associated to these conditions.”
"eVAI is supporting our NGS laboratory in the diagnosis of cardiovascular diseases. The clear application of ACMG-AMP guidelines allows us to speed up the evaluation process of possible pathogenic variants and report the rationale behind each observation."
By combining artificial intelligence with ACMG-AMP guidelines, eVai classifies and prioritizes every genomic variant for pathogenicity, suggesting all the possible related genetic diagnosis. The accurate prioritization combined with an unique and extremely intuitive interface allows genetic experts to focus on the smallest interesting set of variants. Discover, for instance, how eVai improved variant pathogenicity assessment for cardiovascular related genes (Nicora et al, Human Mutation 2018).
Automated ACMG-driven prioritization
Family based analysis
Omics resources integration
Automated ACMG-driven prioritizationThanks to its artificial intelligence algorithm, eVai automatically pre-classifies every variant according to the international guidelines showing the activated ACMG criteria and the supporting evidences.
Moreover, eVai assigns a pathogenicity score even for variants of unknown significance (VUS), allowing genetic experts to re-evaluate the most promising ones.