eVAI: the Expert Variant Interpreter
Transparent, Accurate and Comprehensive
eVAI automates ACMG-AMP guidelines, reduces the number of VUS and reports the supporting evidence.
The high number of Variants of Unknown Significance (VUS) generated by NGS-based tests reduces the diagnostic yield. To address this problem, ACMG-AMP have developed standard guidelines for clinical interpretation, but their effective application is challenging because of the quantity and complexity of the genomics and clinical information that should be integrated and systematically evaluated.
The Expert Variant Interpreter (eVAI) is our proprietary software built with the aim to support medical geneticists in the pathogenicity assessment of genomic variants.
Transparent guideline-based prediction
Accurate disease-driven classification
Comprehensive omics data integration
Knowledge-based unbiased interpretation
Transparent guideline-based predictionBased on ACMG/AMP guidelines, eVAI integrates artificial learning and knowledge base expert systems in order to automatically generate rule-based pathogenicity variant predictions that are easily human-readable.
Each genomic variant is predicted according to the ACMG/AMP five-tier classification system. Predictions are justified by evidence data that are shown in a transparent way.
“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."