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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2017
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| Materias: | |
| 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 |