68. Integrative analysis of genomic and transcriptomic data using RegTools to identify splice-altering mutations within bulk

The interpretation of variants in cancer is often focused on genomic alterations that have a known coding consequence. This analysis strategy excludes somatic mutations in non-coding regions of the genome and even exonic mutations that may have unidentified regulatory consequences. To address this issue, we created RegTools, a software suite that integrates analysis of variant calls from genomic data with evidence of expressed splice junctions from transcriptomic data to efficiently identify variants that may cause aberrant splicing in tumors.

Source: Cancer Genetics and Cytogenetics - November 1, 2022 Category: Genetics & Stem Cells Authors: Kelsy Cotto, Yang-Yang Feng, Avinash Ramu, Megan Richters, Sharon Freshour, Zachary Skidmore, Joshua McMichael, Jason Kunisaki, Yiing Lin, William Chapman, Christopher Maher, Vivek Arora, Gavin Dunn, Ravindra Uppaluri, Ramaswamy Govindan, Obi L. Griffith, Source Type: research