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

Programme(s): HORIZON.3.1 - The European Innovation Council (EIC)

HORIZON.3.1.2 - The Accelerator

Topic: HORIZON-EIC-2021-ACCELERATORCHALLENGES-01-01 - Strategic Digital and Health Technologies

Call for proposal: HORIZON-EIC-2021-ACCELERATORCHALLENGES-01

Funding Scheme:  HORIZON-AG - HORIZON Action Grant Budget-Based

Grant agreement ID: 190164416

Objective: Genetic diseases affect +300 million individuals worldwide, resulting in 2.8 million new patients every year. The advent of Next Generation Sequencing (NGS) means it’s now possible to analyze the whole patient’s genome. However, variant interpretation is the biggest hindrance to 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 is a revolutionary SaaS platform that allows geneticists to identify multiple pathogenic genomic variants with unprecedented accuracy and speed. We bring to market [1] first and only digenic and oligogenic variant interpretation [2] best predictive causative variants accuracy; [3] reduced turnaround time; and [4] consistency of variant interpretation; [5] discovery of unknown variants.