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BIOspektrum

, Volume 24, Issue 5, pp 475–478 | Cite as

Um die Ecke gedacht: molekulargenetische Diagnose mit Transkriptomanalyse

  • Laura KremerEmail author
Wissenschaft Molekulare Diagnostik
  • 16 Downloads

Abstract

Transcriptome analysis reveals functional effects of coding as well as non-coding variants on RNA abundance and sequence and can hence ease the identification of pathogenic variants in patients with genetic disorders.

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Copyright information

© Springer-Verlag GmbH Deutschland, ein Teil von Springer Nature 2018

Authors and Affiliations

  1. 1.Helmholtz Zentrum MünchenDeutsches Forschungszentrum für Gesundheit und Umwelt (GmbH)BerlinDeutschland

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