Genome-Wide Analysis Reveals a Role of 3'untranslated Region Variants Affecting Cleavage and Polyadenylation in Undiagnosed Rare Disorders
Yaroslav A. Kainov, Cristina Dias, Tim Hubbard
The paper identifies 3'UTR variants disrupting cleavage and polyadenylation as potential causes of undiagnosed rare disorders using deep learning on Genomics England data.
medRxiv · Feb 16, 2025 · PreprintGenetic & Genomic Medicine