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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Detalles Bibliográficos
Autores principales: Mertes, Christian, Scheller, Ines F., Yépez, Vicente A., Çelik, Muhammed H., Liang, Yingjiqiong, Kremer, Laura S., Gusic, Mirjana, Prokisch, Holger, Gagneur, Julien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7822922/
https://www.ncbi.nlm.nih.gov/pubmed/33483494
http://dx.doi.org/10.1038/s41467-020-20573-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7822922/
https://www.ncbi.nlm.nih.gov/pubmed/33483494
http://dx.doi.org/10.1038/s41467-020-20573-7

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