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 diseasesbroad
eVai · Horizon Europe grant · 2022-04-01–2024-03-31
EC contribution
Total cost
Beneficiaries
About the data
Source: CORDIS (official EU open data), Horizon Europe. Framework HORIZON · call HORIZON-EIC-2021-ACCELERATORCHALLENGES-01 · scheme HORIZON-EIC-ACC-BF · topic HORIZON-EIC-2021-ACCELERATORCHALLENGES-01-01. CORDIS record →
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 its now possible to analyze the whole patients 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.
Beneficiaries (1)
| Organisation | Country | Role | EC contribution | SME |
|---|---|---|---|---|
| ENGENOME SRL | IT | coordinator | €1,682,538 | Yes |
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