一种用于从全基因组测序数据中检测DUX4重排的专用程序。

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

Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK.

Genpax Ltd, Office 4.05, 53, 64 Chancery Ln, London, UK.

BMC Med Genomics. 2025 Jan 30;18(1):24. doi: 10.1186/s12920-024-02069-1.

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.

涉及DUX4基因的重排（DUX4-r）定义了一种预后良好的儿童和成人急性淋巴细胞白血病（ALL）亚型。目前，尚无用于可靠识别它们的“标准护理”诊断方法。在此，我们展示了一种开源软件工具，旨在从短读长全基因组测序（WGS）数据中检测DUX4-r。对210例儿童ALL病例队列的评估表明，我们的方法能够检测出所有已知的以及先前未识别的IGH::DUX4病例和与其他伙伴基因的重排。这些发现证明了在常规临床环境中使用WGS可靠检测DUX4-r的可能性。