Next-generation sequencing for research and diagnostics in kidney disease

Nat Rev Nephrol. 2014 Aug;10(8):433-44. doi: 10.1038/nrneph.2014.95. Epub 2014 Jun 10.


The advent of next-generation sequencing technologies has enabled genetic nephrology research to move beyond single gene analysis to the simultaneous investigation of hundreds of genes and entire pathways. These new sequencing approaches have been used to identify and characterize causal factors that underlie inherited heterogeneous kidney diseases such as nephronophthisis and congenital anomalies of the kidney and urinary tract. In this Review, we describe the development of next-generation sequencing in basic and clinical research and discuss the implementation of this novel technology in routine patient management. Widespread use of targeted and nontargeted approaches for gene identification in clinical practice will require consistent phenotyping, appropriate disease modelling and collaborative efforts to combine and integrate data analyses. Next-generation sequencing is an exceptionally promising technique that has the potential to improve the management of patients with inherited kidney diseases. However, identifying the molecular mechanisms that lead to renal developmental disorders and ciliopathies is difficult. A major challenge in the near future will be how best to integrate data obtained using next-generation sequencing with personalized medicine, including use of high-throughput disease modelling as a tool to support the clinical diagnosis of kidney diseases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Animals
  • Cytoskeletal Proteins
  • Disclosure / ethics
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Incidental Findings
  • Kidney / abnormalities
  • Kidney / physiology
  • Kidney Diseases, Cystic / genetics
  • Membrane Proteins / genetics
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Renal Insufficiency, Chronic / diagnosis
  • Renal Insufficiency, Chronic / genetics*
  • TRPP Cation Channels / genetics
  • Urinary Tract / abnormalities
  • Urogenital Abnormalities
  • Vesico-Ureteral Reflux / genetics


  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • Membrane Proteins
  • NPHP1 protein, human
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein
  • polycystic kidney disease 2 protein

Supplementary concepts

  • Cakut