Summary
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.
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.
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| Web resources: | https://cordis.europa.eu/project/id/190164416 |
| Start date: | 01-04-2022 |
| End date: | 31-03-2024 |
| Total budget - Public funding: | 2 403 625,01 Euro - 1 682 537,00 Euro |
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Original description
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.
Status
SIGNEDCall topic
HORIZON-EIC-2021-ACCELERATORCHALLENGES-01-01Update Date
09-02-2023
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