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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Exome sequencing for syndrome diagnostics

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  3. Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

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  5. Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study

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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.

Original languageEnglish
JournalUgeskrift for Laeger
Volume179
Issue number17
Pages (from-to)V10160762
ISSN0041-5782
Publication statusPublished - 24 Apr 2017

    Research areas

  • English Abstract, Journal Article

ID: 52176091