The introduction of next-generation sequencing has provided revolutionary opportunities for comprehensive genetic testing in research and diagnostics. Here, the authors discuss approaches used for novel gene identification, the potential of these techniques to improve the management of patients with inherited kidney diseases—focusing on nephronophthisis and congenital anomalies of the kidney and urinary tract—and the remaining challenges for implementation of next-generation sequencing in clinical practice.
- Kirsten Y. Renkema
- Marijn F. Stokman
- Nine V. A. M. Knoers
