mlthayer/scripts-run_splice_scan.R: WT vs MUT splice motif scan (v0.1.0)
Abstract
Initial public release of a reproducible R pipeline for scanning WT vs MUT cDNA sequences for candidate splice donor (GT) and acceptor (AG) motifs within ±200 nt windows around a mutation. Includes: sequence sanitization mutation localization splice motif scanning simple heuristic splice-site strength scoring WT vs MUT comparison table output (CSV) This release accompanies analysis of splice-altering variants.
Fields of Study & Subjects
RNA Research and Splicing
Genomics and Rare Diseases
Genomics and Phylogenetic Studies
Publication details
- Journal / source
- Zenodo (CERN European Organization for Nuclear Research)
- Publication date
- 18 January 2026