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Titel:

Detection of aberrant splicing events in RNA-seq data using FRASER.

Dokumenttyp:
Article; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
Mertes, Christian; Scheller, Ines F; Yépez, Vicente A; Çelik, Muhammed H; Liang, Yingjiqiong; Kremer, Laura S; Gusic, Mirjana; Prokisch, Holger; Gagneur, Julien
Abstract:
Aberrant splicing is a major cause of rare diseases.  However, its prediction from genome sequence alone remains in most cases inconclusive. Recently, RNA sequencing has proven to be an effective complementary avenue to detect aberrant splicing. Here, we develop FRASER, an algorithm to detect aberrant splicing from RNA sequencing data. Unlike existing methods, FRASER captures not only alternative splicing but also intron retention events. This typically doubles the number of detected aberrant ev...     »
Zeitschriftentitel:
Nat Commun
Jahr:
2021
Band / Volume:
12
Heft / Issue:
1
Volltext / DOI:
doi:10.1038/s41467-020-20573-7
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33483494
Print-ISSN:
2041-1723
TUM Einrichtung:
Institut für Humangenetik
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