Fast and sensitive validation of fusion transcripts in whole-genome sequencing data.

ABSTRACT:

Background

In cancer, genomic rearrangements can create fusion genes that either combine protein-coding sequences from two different partner genes or place one gene under the control of the promoter of another gene. These fusion genes can act as oncogenic drivers in tumor development and several fusions involving kinases have been successfully exploited as drug targets. Expressed fusions can be identified in RNA sequencing (RNA-Seq) data, but fusion prediction software often has a high fraction of false positive fusion transcript predictions. This is problematic for both research and clinical applications.

Results

We describe a method for validation of fusion transcripts detected by RNA-Seq in matched whole-genome sequencing (WGS) data. Our pipeline uses discordant read pair

SUBMITTER: Hafstað V 

PROVIDER: S-EPMC10518092 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature