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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

Project description

New platform to identify disease-causing genomic variants

Genetic diseases affect hundreds of millions of people worldwide. The development of next-generation sequencing has enabled analyses of whole genomes. However, identification of the disease-causing variants is lagging, and diagnosis of genetic disorders is only achieved in less than half the cases on average. The EU-funded eVai project is developing an innovative software-as-a-service platform for geneticists that will enable the accurate and fast identification of multiple pathogenic genomic variants. The platform will be the first to enable monogenic, digenic and oligogenic variant interpretation with high predictive power thus facilitating discovery of pathogenic variants still unknown.


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.


Net EU contribution
€ 1 682 537,51
Via ferrata 5
27100 Pavia

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Nord-Ovest Lombardia Pavia
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Other funding
€ 721 087,50