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

Authors
  • Gulati, Ashima1
  • Somlo, Stefan2
  • 1 Division of Nephrology, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA. [email protected]
  • 2 Departments of Internal Medicine and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Type
Published Article
Journal
Pediatric Nephrology
Publisher
Springer-Verlag
Publication Date
Jun 29, 2017
Identifiers
DOI: 10.1007/s00467-017-3698-0
PMID: 28660367
Source
Medline
Keywords
License
Unknown

Abstract

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.

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