CORDIS Project
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The eVai platform enhances the interpretation of genetic variants, enabling geneticists to accurately identify disease-causing variants in patients' genomes. This software as a service (SaaS) solution improves diagnostic efficiency and consistency, addressing the challenges posed by Next Generation Sequencing technolog…
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 platfo…
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