Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.

ABSTRACT:

Importance

Most studies of autosomal dominant polycystic kidney disease (ADPKD) genetics have used kidney specialty cohorts, focusing on PKD1 and PKD2. These can lead to biased estimates of population prevalence of ADPKD-associated gene variants and their phenotypic expression.

Objective

To determine the prevalence of ADPKD and contributions of PKD1, PKD2, and other genes related to cystic kidney disease in a large, unselected cohort.

Design, setting, and participants

This retrospective observational study used an unselected health system-based cohort in central and northeast Pennsylvania with exome sequencing (enrolled from 2004 to 2020) and electronic health record data (up to October 2021). The genotype-first approach included the entire cohort and the phenotype-fi

SUBMITTER: Chang AR 

PROVIDER: S-EPMC9856880 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature