Applications

From Complex Diagnosis to High-Volume Screening

eVai provides a dual-engine approach, seamlessly transitioning between Hypothesis-Driven diagnoses for rare diseases and Hypothesis-Free efficiency for population-scale screening.

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Fastq or VCF from WGS, WES & Panels

SNVs, Indels, CNVs, STR, ROH, SV

Nuclear & Mito DNA from GRCH37 and 38

Hypothesis Driven Diagnoses

Our AI-powered Suggested Diagnosis leverages clinical information to rank variants based on their probability of being disease-causing, identifying the most likely genetic diagnosis for the patient.

Users can easily evaluate how phenotypes, inheritance fit, and pathogenicity impact the clinical score, including the direct overlap between patient and gene-associated phenotypes.

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Hypothesis Free Screening

For each variant, eVai applies international guidelines to pre-classify variants according to their pathogenicity. This standardized approach enables the efficient analysis of hereditary risk screening.

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"eVai positively impacted interpretation efficiency by reducing the manual review list to a manageable handful of high-priority hits."

How Oregon’s OHSU Knight Diagnostics Laboratories Supercharged Exome Workflows with eVai

"We currently use eVai because of its high accuracy. In the majority of cases analyzed, eVai successfully indicates the pathogenic variant among the high-priority variants on the top of the list. The software significantly reduces the time spent on the analysis of thousands of variants in a very intuitive way."

How eVai empowers the Genomic Workflow at IRCCS Burlo Garofolo

"While eVai provides advanced filtering options, its true power lies in the Suggested Diagnosis module. This AI-driven feature goes beyond rigid filters to uncover hidden, clinically relevant variants and significantly increase your diagnostic yield."

From undiagnosed to understood: How Germans Trias i Pujol Hospital solved a complex case with eVai

"No patient should have to suffer with uncertainty for years. Using enGenome, we can relieve uncertainty. It's not a game changer, it's a life changer."