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ENGLISH ABSTRACT
JOURNAL ARTICLE
[Exome sequencing for syndrome diagnostics].
Ugeskrift for Laeger 2017 April 25
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.
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