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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 to identify the disease-causing changes in a large variety of genetic disorders.

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

Indeed, WES has not only been successful in identification of new disease genes but it is also a powerful method in clinical setting 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 20-60% 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: 07.18.2019