全基因组测序数据DUX4重排的专用调用者。

IF 2.1 4区医学 Q3 GENETICS & HEREDITY

BMC Medical Genomics Pub Date : 2025-01-30 DOI:10.1186/s12920-024-02069-1

Pascal Grobecker, Stefano Berri, John F Peden, Kai-Jie Chow, Claire Fielding, Ivana Armogida, Helen Northen, David J McBride, Peter J Campbell, Jennifer Becq, Sarra L Ryan, David R Bentley, Christine J Harrison, Anthony V Moorman, Mark T Ross, Martina Mijuskovic

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引用次数: 0

摘要

涉及DUX4基因（DUX4-r）的重排定义了儿童和成人急性淋巴细胞白血病（ALL）的一种亚型，具有良好的预后。目前，没有“标准护理”的诊断方法来确定他们。在这里，我们提出了一个开源软件工具，旨在从短读全基因组测序（WGS）数据中检测DUX4-r。对210例儿科ALL病例队列的评估表明，我们的方法检测到所有已知的和以前未发现的IGH::DUX4病例和与其他伴侣基因重排的病例。这些发现证明了在常规临床环境中使用WGS检测DUX4-r的可能性。

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A dedicated caller for DUX4 rearrangements from whole-genome sequencing data.

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.

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来源期刊

BMC Medical Genomics 医学-遗传学

CiteScore

3.90

自引率

0.00%

发文量

243

审稿时长

3.5 months

期刊介绍： BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.