The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders

Clin Lab Med. 2020 Jun;40(2):121-133. doi: 10.1016/j.cll.2020.02.004.

¹ Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Ismaninger Straße 22, 81675, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Ingolstaedter Landstraße 1, 85764, Neuherberg, Germany. Electronic address: sarah.stenton@helmholtz-muenchen.de.
² Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Ismaninger Straße 22, 81675, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Ingolstaedter Landstraße 1, 85764, Neuherberg, Germany.

No abstract available

Keywords: Diagnostic yield; Genomic sequencing; RNA-seq; Variant prioritization.

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