Droplet digital PCR assay to analyze allele-specific mRNA expression on HTT repeat expansion locus
Eugenio Gentile, Michel Tessier, Jessica Migliavacca, Andrea Manfrin, Nazia Maroof, David J. Hawellek, Marc Sultan, Damian Roqueiro, Anna Rautanen
The paper develops an optimized droplet digital PCR assay to precisely quantify allele-specific HTT mRNA expression in HD patient cell lines, enabling reliable monitoring of allele-selective knockdown.
medRxiv · Sep 26, 2025 · PreprintGenetic & Genomic Medicine