Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

Expert Rev Mol Diagn. 2015 Jun;15(6):749-60. doi: 10.1586/14737159.2015.1039516. Epub 2015 May 9.


Whole-exome sequencing (WES) represents a significant breakthrough in the field of human genetics. This technology has largely contributed to the identification of new disease-causing genes and is now entering clinical laboratories. WES represents a powerful tool for diagnosis and could reduce the 'diagnostic odyssey' for many patients. In this review, we present a technical overview of WES analysis, variants annotation and interpretation in a clinical setting. We evaluate the usefulness of clinical WES in different clinical indications, such as rare diseases, cancer and complex diseases. Finally, we discuss the efficacy of WES as a diagnostic tool and the impact on patient management.

Keywords: cancer; diagnostic; rare diseases; variants detection; whole-exome sequencing.

Publication types

  • Review

MeSH terms

  • Disease Management
  • Exome*
  • Genomics* / methods
  • Genomics* / standards
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Molecular Diagnostic Techniques* / methods
  • Molecular Diagnostic Techniques* / standards
  • Neoplasms / diagnosis
  • Neoplasms / genetics
  • Rare Diseases / diagnosis
  • Rare Diseases / genetics