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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

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.

Coordinator

ENGENOME SRL
Net EU contribution
€ 1 682 537,51
Address
Via Ferrata 5
27100 Pavia
Italy

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