Author

Youssef Boulaimen

Université Côte d'Azur

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Bioinformatics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

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Jasmine Singh· 1 shared Justine Labory· 1 shared Samira Ait-El-MkademiD· 1 shared Silvia BottiniiD· 1 shared Sylvie BannwarthiD· 1 shared Véronique Paquis‐FlucklingeriD· 1 shared

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2025-2025 · peak 1/yr

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Jasmine Singh

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1 paper

Recent·Most cited

BioinformaticsBriefings in BioinformaticsPeer-reviewedNov 1, 2025

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

Justine Labory, Youssef Boulaimen, Jasmine Singh…·Silvia Bottini

VIOLA prioritizes pathogenic variants in mitochondrial diseases using a variational autoencoder and outlier detection, outperforming existing methods in a patient cohort.

DOI 10.1093/bib/bbaf612

humanwhole-exome sequencing