Whole-genome sequencing characterizes monogenic and polygenic contributions to structural kidney and urinary tract malformations
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The authors aimed to characterize the genomic architecture of congenital anomalies of the kidneys and urinary tract (CAKUT) using whole-genome sequencing (WGS) in a cohort of 1,052 individuals. They found a low overall diagnostic yield of 4.9% for monogenic causes, with certain clinical features predicting higher rates, while common and low-frequency variants were estimated to explain 23% of the phenotypic variance, suggesting these variants may contribute to the heritability of CAKUT.
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