Benutzer: Gast  Login
Titel:

Detection of aberrant gene expression events in RNA sequencing data.

Dokumenttyp:
Article; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
Yépez, Vicente A; Mertes, Christian; Müller, Michaela F; Klaproth-Andrade, Daniela; Wachutka, Leonhard; Frésard, Laure; Gusic, Mirjana; Scheller, Ines F; Goldberg, Patricia F; Prokisch, Holger; Gagneur, Julien
Abstract:
RNA sequencing (RNA-seq) has emerged as a powerful approach to discover disease-causing gene regulatory defects in individuals affected by genetically undiagnosed rare disorders. Pioneering studies have shown that RNA-seq could increase the diagnosis rates over DNA sequencing alone by 8-36%, depending on the disease entity and tissue probed. To accelerate adoption of RNA-seq by human genetics centers, detailed analysis protocols are now needed. We present a step-by-step protocol that details how...     »
Zeitschriftentitel:
Nat Protoc
Jahr:
2021
Band / Volume:
16
Heft / Issue:
2
Seitenangaben Beitrag:
1276-1296
Volltext / DOI:
doi:10.1038/s41596-020-00462-5
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33462443
Print-ISSN:
1754-2189
TUM Einrichtung:
Institut für Humangenetik
 BibTeX