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Diagnostisk exomsekventering til udredning af syndromer

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Elsebet Østergaard1, Lotte Risom1, Jakob Ek1, Sabine Grønborg1, Morten Dunø1 & Flemming Skovby2 1) Klinisk Genetisk Klinik, Rigshospitalet 2) Klinisk Genetisk Enhed, Pædiatrisk Afdeling, Sjællands Universitetshospital Roskilde Ugeskr Læger 2017;179:V10160762
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Ugeskr Læger 2017;179:V10160762
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2-6
Exome sequencing for syndrome diagnostics
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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