Mechanistic 5'UTR Variant Scoring Expands Rare Variant Discovery in the UK Biobank
Matthieu Chaldebas, Khoren Ponsin, Haralambos A. Mourelatos, Yoann Seeleuthner, Clément Conil, Jonathan Bohlen, Jean‐Laurent Casanova, Peng Zhang, Aurélie Cobat
The paper introduces 5ULTRA, a machine-learning tool for annotating 5'UTR variants, identifying new gene-phenotype associations in the UK Biobank that are missed by existing methods.
medRxiv · Sep 11, 2026 · PreprintGenetic & Genomic Medicine