Article

Expanding the utility of transcriptome analysis for mutation detection in high-risk childhood precision oncology

2025-06-26

Abstract excerpt

In precision oncology, whole transcriptome sequencing (RNA-seq) excels at identifying oncogenic fusions. Here, using a cohort of 477 high-risk paediatric tumours, we demonstrate that RNA-seq can identify all mutation classes found previously using whole genome sequencing (WGS) and provides additional functional insights into their pathogenicity. By incorporating reference-guided fusion, and reference-free structur...

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Literature Corpus work: 3eae0f2f-f7de-553b-8ce9-fd41da17a0b6
DOI: 10.1101/2025.06.25.661445

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