A novel bioinformatics SaaS platform to identify and classify the pathogenicity of single genomic variants and oligogenic variant combinations for the diagnosis and treatment of genetic diseases

eVai is a SaaS platform that enhances genetic variant interpretation, enabling accurate and rapid identification of pathogenic variants to improve diagnostic yields for genetic diseases.

Subsidie
€ 1.682.537
2022

Projectdetails

Introduction

Genetic diseases affect over 300 million individuals worldwide, resulting in 2.8 million new patients every year. The advent of Next Generation Sequencing (NGS) means it is now possible to analyze the whole patient's genome.

Challenges in Genetic Diagnosis

However, variant interpretation is the biggest hindrance to the widespread adoption of NGS technologies. Hence, clinicians are struggling to identify disease-causing variants, and the diagnostic yield of genetic disorders is only about 50% on average.

eVai Platform

eVai is a revolutionary SaaS platform that allows geneticists to identify multiple pathogenic genomic variants with unprecedented accuracy and speed.

Key Features

We bring to market:

  1. The first and only digenic and oligogenic variant interpretation.
  2. Best predictive causative variant accuracy.
  3. Reduced turnaround time.
  4. Consistency of variant interpretation.
  5. Discovery of unknown variants.

Financiële details & Tijdlijn

Financiële details

Subsidiebedrag€ 1.682.537
Totale projectbegroting€ 2.403.625

Tijdlijn

Startdatum1-4-2022
Einddatum31-3-2024
Subsidiejaar2022

Partners & Locaties

Projectpartners

  • ENGENOME SRLpenvoerder

Land(en)

Italy

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