BioinformaticsNature CommunicationsPeer-reviewed
Systematically developing a registry of splice-site creating variants utilizing massive publicly available transcriptome sequence data
Naoko Iida, Ai Okada, Yoshihisa Kobayashi…·Yuichi Shiraishi
The paper develops a framework to identify splice-site creating variants (SSCVs) using transcriptome data, identifies 30,130 SSCVs, and demonstrates their therapeutic potential with ASOs.
4 citations