eVai now performs detection and interpretation of mitochondrial DNA variants!
12 July 2023

enGenome announces the launch of mitochondrial analysis on eVai - their award-winning variant interpreter. With eVai's cutting-edge technology, researchers and clinicians can now seamlessly detect and interpret mitochondrial and nuclear DNA variants from their sequencing data.

eVai's mitochondrial analysis integrates variant calling and performs a pre-classification based on ACMG/AMP guidelines. It is also incorporated in the best-in-class AI-powered Suggested Diagnosis, accelerating the identification of mitochondrial disorders from nuclear and mitochondrial DNA variants, enhancing diagnostic efficiency.

"Mitochondrial DNA plays a crucial role in various genetic disorders and its inclusion in our advanced analysis capabilities will enhance the accuracy and speed of diagnosis. Our goal has always been to empower researchers and clinicians with the most advanced tools, and this latest addition reinforces that”, says Ettore Rizzo, CEO of enGenome.

The seamless integration of this feature ensures a user-friendly experience while delivering results with exceptional accuracy and speed.


To learn more about eVai's mitochondrial analysis and explore its vast capabilities, don’t hesitate to get in contact with the software experts. 

Press Contact: Giovana Herold -