WGS showed a more uniform representation of entire PKD1 and PKD2, including exons 1–32 of PKD1. It has been suggested that longer read lengths and avoidance of capture bias enhanced the ability of WGS to detect pathological ADPKD mutations, including those in the duplicated region of PKD137,38. Here, PKD1 is linked to autosomal dominant polycystic kidney disease.