A tool for the identification of splice variants in RNA-seq data. The ISVASE algorithm uses rule-based filters, identifies splicing junctions, sequence variants, and exon-exon junction shifts.
Genetic variation; RNA-seq; RNA splicing
Aljohi HA, Liu W, Lin Q, Yu J, Hu S "ISVASE: identification of sequence variant associated with splicing event using RNA-seq data." BMC Bioinformatics. 2017 Jun 28;18(1):320. https://doi.org/10.1186/s12859-017-1732-7
PMID: 28659141
PMCID: PMC5490186
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