[Exome sequencing for syndrome diagnostics]

Ugeskr Laeger. 2017 Apr 24;179(17):V10160762.
[Article in Danish]


The majority of rare congenital disorders and syndromes have a genetic cause, but the diagnostic rate using standard workup is only around 50%. Whole exome and whole genome sequencing methods have improved the genetic diagnosis of syndromes during the latest few years. This article is a presentation of the current status of methods, results and ethical aspects, especially regarding incidental findings, of exome sequencing, which is now implemented in clinical diagnostics.

Publication types

  • Review

MeSH terms

  • Exome Sequencing / ethics
  • Exome Sequencing / methods*
  • Exome Sequencing / standards
  • Genetic Diseases, Inborn / diagnosis*
  • Humans
  • Incidental Findings
  • Syndrome