BioinformaticsbioRxivPreprint
A dedicated caller for DUX4 rearrangements from whole-genome sequencing data
Pascal Grobecker, Stefano Berri, John F. Peden…·Martina Mijušković
The paper introduces a software tool to detect DUX4 rearrangements from whole-genome sequencing data, showing it can identify known and previously unidentified cases in a cohort of paediatric ALL patients.