Author:
Grobecker Pascal,Berri Stefano,Peden John F.,Chow Kai-Jie,Fielding Claire,Armogida Ivana,Northen Helen,McBride David J.,Campbell Peter J.,Becq Jennifer,Ryan Sarra L.,Bentley David R.,Harrison Christine J.,Moorman Anthony V.,Ross Mark T.,Mijuskovic Martina
Abstract
AbstractRearrangements involving theDUX4gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no ‘standard of care’ diagnostic method for their confident identification. Here, we present an open-source software tool designed to detectDUX4-r from short-read, whole-genome sequencing (WGS) data. Evaluation on a cohort of 210 paediatric ALL cases showed that our method detects all known, as well as previously unidentified, cases ofIGH::DUX4and rearrangements with other partner genes. These findings demonstrate the possibility of robustly detectingDUX4-r using WGS in the routine clinical setting.
Publisher
Cold Spring Harbor Laboratory