ISVASE: identification of sequence variant associated with splicing event using RNA-seq data

BACKGROUND: Exon recognition and splicing precisely and efficiently by spliceosome is the key to generate mature mRNAs. About one third or a half of disease-related mutations affect RNA splicing. Software PVAAS has been developed to identify variants associated with aberrant splicing by directly usi...

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Detalles Bibliográficos
Autores principales: Aljohi, Hasan Awad, Liu, Wanfei, Lin, Qiang, Yu, Jun, Hu, Songnian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490186/
https://www.ncbi.nlm.nih.gov/pubmed/28659141
http://dx.doi.org/10.1186/s12859-017-1732-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490186/
https://www.ncbi.nlm.nih.gov/pubmed/28659141
http://dx.doi.org/10.1186/s12859-017-1732-7

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