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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Nat Commun
Egile Nagusiak: Mertes, Christian, Scheller, Ines F., Yépez, Vicente A., Çelik, Muhammed H., Liang, Yingjiqiong, Kremer, Laura S., Gusic, Mirjana, Prokisch, Holger, Gagneur, Julien
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group UK 2021
Gaiak:
Sarrera elektronikoa: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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