Author

Clément Conil

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Open access Sep 2026

Mechanistic 5’UTR Variant Scoring Expands Rare Variant Discovery in the UK Biobank

The 5' untranslated region (5'UTR) regulates protein output through upstream open reading frames (uORFs) and Kozak context, yet most deleteriousness scores rely heavily on evolutionary conservation of its nucleotide positions. Using 5ULTRA, a machine-learning classifier trained on 5'UTR regulatory biology, we annotated...

Matthieu Chaldebas, Khoren Ponsin, Haralambos Mourelatos et al. · medRxiv · 0 citations

Open access Aug 2026

Prediction of human missense variant effects from functional evidence

FuncVEP, a family of variant effect predictors trained on diverse functional data to predict the functional impact of missense variants, provides a robust, scalable solution for variant interpretation, advancing both diagnostic precision and gene discovery.

Barış Kayaalp, K. Çil, C. Conil et al. · Nature Genetics · 0 citations