cnvs

gitelman

adpkd

polycystic kidney disease

dominant polycystic

ckd_135133

adpkd patients

autosomal dominant

target capture

Journal of the American Society of Nephrology

Population whole-genome sequencing suggests a higher than expected prevalence of ADPKD-associated mutations. Loss-of-function mutations in ADPLD genes are also more common than expected, suggesting the possibility of unrecognized cases and incomplete penetrance. Substantial rare variation exists in genes with potential for phenotype modification in ADPKD.

Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing