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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...
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| Vydáno v: | BMC Bioinformatics |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5490186/ https://ncbi.nlm.nih.gov/pubmed/28659141 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-017-1732-7 |
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