Accelerate the discovery of genetic variants in mitochondrial diseases with VIOLA: Variant PrIOritization using Latent space
Justine Labory, Youssef Boulaimen, Jasmine Singh, Samira Ait-El-Mkadem, Véronique Paquis‐Flucklinger, Sylvie Bannwarth, Silvia Bottini
VIOLA prioritizes pathogenic variants in mitochondrial diseases using a variational autoencoder and outlier detection, outperforming existing methods in a patient cohort.
Briefings in Bioinformatics · Nov 1, 2025Peer-reviewedBioinformatics