enGenome

Excellence in monogenic interpretation

Winner of the NIH-funded CAGI6 Challenge, eVai platform automates ACMG guidelines and prioritizes variants to highlight candidate diagnoses.

Request a demo

Download whitepaper

Book an appointment

Contact us

Here's why clients choose us

Pathogenic variants ranked in first positions

Classification accuracy up to 98%

VUS reduction up to 60%

Intuitive and Fast

Secure, CE-IVD and ISO 13485 certified

- AI-powered Prioritization

eVai leverages our proprietary AI technology to assign a pathogenicity score to each variant, enabling their prioritization for hypothesis-free or hypothesis-driven approach. Even VUS get a score and can be stratified.

- Automated ACMG Classification

eVai automatically pre-classifies SNV, Indels and CNVs according to international guidelines. The classification is disease-specific and reports both the activated criteria and the supporting evidence.

Laboratory Knowledgebase

Variant-disease associations can be submitted to a private lab repository that can contribute to significantly improve classification and prioritization performances over time. Moreover, the lab repository can be used to store info about variant artifacts.

Omics Resources Integration

By integrating more than 30 omics resources, eVai is constantly up-to-date with the current genomic literature, from population databases (e.g. gnomAD) to gene-disease ones (e.g. MedGen).

- Family Analysis

Analyze trio, quartet or up to 7 family members: for each variant, eVai will automatically infer the possible inheritance patterns according to a fully penetrant disease. Users can select the variants that fit certain inheritance patterns and quickly compare genotypes across the members.

- Variant Filtering

eVai enables users to create virtual gene panels and custom variant filters by leveraging on multiple omics resources such as Human Phenotype Ontology.

Try eVai out!

Make your interpretation process intuitive, faster and more accurate.

Request a demo Learn more

Trusted worldwide

Today, around 50% of rare disease patients remain undiagnosed. Our mission is to raise the bar of the current diagnostic yield.

Our breakthrough AI technology goes beyond the “one-gene one-disease” paradigm unlocking new diagnoses through the assessment of the pathogenic variant combinations.

Discover our current projects