Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer
oleh: Kelsy C. Cotto, Yang-Yang Feng, Avinash Ramu, Megan Richters, Sharon L. Freshour, Zachary L. Skidmore, Huiming Xia, Joshua F. McMichael, Jason Kunisaki, Katie M. Campbell, Timothy Hung-Po Chen, Emily B. Rozycki, Douglas Adkins, Siddhartha Devarakonda, Sumithra Sankararaman, Yiing Lin, William C. Chapman, Christopher A. Maher, Vivek Arora, Gavin P. Dunn, Ravindra Uppaluri, Ramaswamy Govindan, Obi L. Griffith, Malachi Griffith
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2023-03-01 |
Deskripsi
Analysing the regulatory consequences of mutations and splice variants at large scale in cancer requires efficient computational tools. Here, the authors develop RegTools, a software package that can identify splice-associated variants from large-scale genomics and transcriptomics data with efficiency and flexibility.