RegTools: Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer
Kelsy C. Cotto, Yang-Yang Feng, Avinash Ramu, Megan M. Richters, Sharon L. Freshour, Zachary L. Skidmore, Huiming Xia, Joshua F. McMichael, Jason Kunisaki, Katie Marie Campbell, Timothy Hung-Po Chen, Emily B. Rozycki, Douglas R. Adkins, Siddhartha H. K. Devarakonda, Sumithra Sankararaman, , Malachi Griffith
RegTools identifies splice-associated variants in cancer by integrating genomic and transcriptomic data across 9,000 tumor samples, discovering 235,778 splicing events.
Nature Communications · Mar 22, 2023Peer-reviewedBioinformatics