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Whole Exome Sequencing: Maximizing the diagnostic yield in various clinical indications
Sep 14, 2016

Genetic diagnoses efficiently and reliably

Reaching a correct genetic diagnosis in a timely manner allows for appropriate disease management and can significantly improve a patient’s quality of life. Whole Exome Sequencing (WES) is a robust and one of the most comprehensive genetic tests for identifying the disease-causing changes in a large variety of genetic disorders.

In WES, protein-coding regions of all genes (approximately 20,000) of the human genome, known as the exome, are sequenced using next-generation sequencing technologies. While the exome constitutes only approximately 1% of the whole genome, 85% of all disease-causing mutations are located there.

Indeed, WES has not only been successful in the identification of new disease genes but is also a powerful method in clinical settings to identify the molecular basis of genetic disorders across various medical specialties.

The diagnostic yield of WES is higher than some traditional gene diagnostic methods. A definite diagnosis is typically obtained in 20% to 60% of cases, depending on the medical specialty, with severe, early-onset disorders having the highest diagnostic rates (The Deciphering Developmental Disorders Study 2014 Nature; Farwell et al. 2015 Genetics in Medicine; Stark et al. 2016 Genetics in Medicine).

Who benefits the most from WES?

WES is most suitable for individuals with:

  • A complex, unspecific genetic disorder with multiple differential diagnoses
  • A genetically heterogeneous disorder
  • A suspected genetic disorder where a specific genetic test is not available
  • Unsuccessful previous genetic testing

Last modified: October 29, 2020