A dedicated caller for DUX4 rearrangements from whole-genome sequencing data
A dedicated caller for DUX4 rearrangements from whole-genome sequencing data
Abstract Rearrangements involving the DUX4 gene (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 detect DUX4-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 of IGH::DUX4 and rearrangements with other partner genes. These findings demonstrate the possibility of robustly detecting DUX4-r using WGS in the routine clinical setting.
McBride David J.、Becq Jennifer、Moorman Anthony V.、Ross Mark T.、Mijuskovic Martina、Grobecker Pascal、Peden John F.、Northen Helen、Berri Stefano、Bentley David R.、Chow Kai-Jie、Armogida Ivana、Harrison Christine J.、Fielding Claire、Campbell Peter J.、Ryan Sarra L.
Illumina Cambridge LtdIllumina Cambridge LtdLeukaemia Research CytogeneKcs Group, TranslaKonal and Clinical Research InsKtute, Newcastle University Centre for Cancer, Faculty of Medical SciencesIllumina Cambridge LtdIllumina Cambridge LtdIllumina Cambridge LtdGenpax LtdIllumina Cambridge LtdIllumina Cambridge LtdIllumina Cambridge LtdIllumina Cambridge LtdIllumina Cambridge LtdLeukaemia Research CytogeneKcs Group, TranslaKonal and Clinical Research InsKtute, Newcastle University Centre for Cancer, Faculty of Medical SciencesIllumina Cambridge LtdIllumina Cambridge LtdLeukaemia Research CytogeneKcs Group, TranslaKonal and Clinical Research InsKtute, Newcastle University Centre for Cancer, Faculty of Medical Sciences
医学研究方法基础医学遗传学
DUX4acute lymphoblastic leukaemiaALLwhole-genome sequencingIGH::DUX4IGH enhancer hijacking
McBride David J.,Becq Jennifer,Moorman Anthony V.,Ross Mark T.,Mijuskovic Martina,Grobecker Pascal,Peden John F.,Northen Helen,Berri Stefano,Bentley David R.,Chow Kai-Jie,Armogida Ivana,Harrison Christine J.,Fielding Claire,Campbell Peter J.,Ryan Sarra L..A dedicated caller for DUX4 rearrangements from whole-genome sequencing data[EB/OL].(2025-03-28)[2025-08-02].https://www.biorxiv.org/content/10.1101/2024.05.23.595509.点此复制
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