학술논문
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer
Document Type
article
Author
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
Source
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Subject
Language
English
ISSN
2041-1723
Abstract
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.