Periodic Reporting for period 2 - eVai (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)

Genetic diseases affect over 300 millions of people worldwide and their diagnoses increasingly depend on the analysis of the entire genome. However, despite the advances in reading DNA, the identification of the disease-causing variants is lagging behind, and diagnosis of...