pvaas

Alternative splicing is a precisely regulated process that involves interactions
between cis- and trans-acting regulatory elements, and factors that disrupt these
interactions can result in aberrant splicing. About 15-60% of human disease-causing
mutations affect mRNA splicing rather than directly affecting coding sequences
(López-Bigas, et al 2005, Krawczak M, et al, 1992). Deep transcriptome sequencing
(RNA-seq) provides ability to interrogate both aberrant splicings and mutations
simultaneously. PVAAS (Program to identify Variants Associated with Aberrant Splicing) is such program
to identify causative mutations that impact RNA splicing.