CrosSplice: A Pipeline for Identifying Rare Splice-Site Creating Variants from Cross-Tissue Transcriptome Data
Yuki Yano, Ai Okada, Misaki Ono, Raúl Nicolás Mateos, Tojo Nakayama, Yuichi Shiraishi
CrosSplice identifies rare splice-site creating variants using cross-tissue transcriptome data, discovering clinically relevant variants missed by conventional methods.
medRxiv · Dec 29, 2025 · PreprintGenetic & Genomic Medicine