Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

ABSTRACT:

Purpose

Autosomal dominant polycystic kidney disease (ADPKD) is a common adult-onset monogenic disorder, with prevalence of 1/1000. Population databases including ExAC have improved pathogenic variant prioritization in many diseases. Due to pseudogene homology of PKD1, the predominant ADPKD disease gene, and the variable disease severity and age of onset, we aimed to investigate the utility of ExAC for variant assessment in ADPKD.

Methods

We assessed coverage and variant quality in the ExAC cohort and combined allele frequency and age data from the ExAC database (n = 60,706) with curated variants from 2000 ADPKD pedigrees (ADPKD Mutation Database).

Results

Seventy-six percent of PKD1 and PKD2 were sequenced adequately for variant discovery and variant quality was high

SUBMITTER: Mallawaarachchi AC 

PROVIDER: S-EPMC6677146 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature