Article

A dedicated caller for <i>DUX4</i> rearrangements from whole-genome sequencing data

2024-05-24

Abstract excerpt

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 paediatr...

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Identifiers and source

Literature Corpus work: 48dd9388-2bf4-5340-bb84-b3ae955c1d2d
DOI: 10.1101/2024.05.23.595509

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