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

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 aberra...

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Publicado en:Nat Commun
Main Authors: Mertes, Christian, Scheller, Ines F., Yépez, Vicente A., Çelik, Muhammed H., Liang, Yingjiqiong, Kremer, Laura S., Gusic, Mirjana, Prokisch, Holger, Gagneur, Julien
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2021
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7822922/
https://ncbi.nlm.nih.gov/pubmed/33483494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-20573-7
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