Article

Accelerate the discovery of genetic variants in mitochondrial diseases with VIOLA: Variant PrIOritization using Latent space

2025-05-21

Abstract excerpt

Interpreting variants from whole-exome sequencing remains a major challenge, particularly for heterogeneous disorders such as mitochondrial diseases (MD). To help finding a diagnosis for complex cases, we have developed VIOLA (Variant prIoritizatiOn using Latent spAce). The pipeline includes a variational autoencoder to embed functional annotations into a low-dimensional space, followed by DBSCAN-based outlier det...

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Literature Corpus work: 7d712f43-21ef-5953-ad5b-32bf55389bab
DOI: 10.1101/2025.05.16.654430

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