Whole-exome-based preconception carrier screening in Uzbekistan with targeted SMA, FMR1, and DMD assays: the first reported clinical program
Андрей КУЛЛЫЕВ, Svetlana Avdeichik, Alexandra Akimenkova, Andrey Kartuesov, Olga Kardymon, Y Goikhman
The paper reports a clinical implementation of a whole-exome sequencing-based preconception carrier screening program in Uzbekistan, identifying actionable genetic risks in couples and singletons.
medRxiv · Jun 4, 2026 · PreprintGenetic & Genomic Medicine