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