Send to

Choose Destination
Pediatr Nephrol. 2018 May;33(5):745-761. doi: 10.1007/s00467-017-3698-0. Epub 2017 Jun 29.

Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.

Author information

Division of Nephrology, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
Departments of Internal Medicine and Genetics, Yale University School of Medicine, New Haven, CT, USA.


The genesis of whole exome sequencing as a powerful tool for detailing the protein coding sequence of the human genome was conceptualized based on the availability of next-generation sequencing technology and knowledge of the human reference genome. The field of pediatric nephrology enriched with molecularly unsolved phenotypes is allowing the clinical and research application of whole exome sequencing to enable novel gene discovery and provide amendment of phenotypic misclassification. Recent studies in the field have informed us that newer high-throughput sequencing techniques are likely to be of high yield when applied in conjunction with conventional genomic approaches such as linkage analysis and other strategies used to focus subsequent analysis. They have also emphasized the need for the validation of novel genetic findings in large collaborative cohorts and the production of robust corroborative biological data. The well-structured application of comprehensive genomic testing in clinical and research arenas will hopefully continue to advance patient care and precision medicine, but does call for attention to be paid to its integrated challenges.


Clinical genetic sequencing; Genetic kidney diseases; Genetics in nephrology; High-throughput sequencing; Human genetics; Next-generation sequencing

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center