RNAsum: a tool for personalised genome and transcriptome interpretation for improved cancer diagnostics
Sehrish Kanwal, Jacek Marzec, Joseph H.A. Vissers, Peter Diakumis, Leila N. Varghese, Luke Tork, Kym Pham Stewart, Oliver Hofmann, Stephen James Luen, Sean Michael Grimmond
RNAsum integrates WGS and WTS data to improve cancer diagnostics by corroborating clinically relevant variants and supporting therapeutic decisions.
medRxiv · Jan 10, 2025 · PreprintGenetic & Genomic Medicine