Open access
Sep 2026
Whole-genome sequencing characterizes monogenic and polygenic contributions to structural kidney and urinary tract malformations.
The diagnostic yield for monogenic kidney disease was only 4.9% in this cohort, with common and low frequency variants potentially accounting for some of the missing heritability of CAKUT, although the confidence intervals were wide.
M. Chan, O. Sadeghi-Alavijeh, Seth du Preez et al.
· Kidney International · 0 citations