Computational protocol: Activation of a cryptic 5′ splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene

Similar protocols

Protocol publication

[…] The strength of the 5′ and 3′ splice sites was determined using MaxEntScan scoring algorithm (http://genes.mit.edu/cgi-bin/Xmaxentscan_scoreseq.pl) (). The 5′ splice sites were also scored using the HBond score web interface, version 3.4 (http://www2.hhu.de/rna/html/hbond_score.php). CRYP-SKIP prediction algorithm was used to determine whether a splicing mutation of interest would result in exon skipping or activation of cryptic/di novo splice sites (). […]

Pipeline specifications

Software tools MaxEntScan, CRYP-SKIP
Application WGS analysis