Splice-site creating variants (SSCVs) are considered promising candidates for treatment with antisense oligonucleotides. Here, the authors present a novel framework to screen for SSCVs solely using transcriptome data and apply it to 322,072 publicly available transcriptomes, cataloging 30,130 SSCVs.
- Naoko Iida
- Ai Okada
- Yuichi Shiraishi
