We aimed to investigate whether these patients had variants in previously unidentified genes or, as other diseases suggest, novel variants in the most likely genes of interest – PKD1 and PKD2. To approach this challenge, we applied sequencing methods not previously extensively used in ADPKD, including short and long-read genome sequencing combined with targeted RNA sequencing. The gene discussed is PKD1; the disease is autosomal dominant polycystic kidney disease.