Article

An optimised computational approach for the identification of somatic structural variants in cancer

2025-07-02

Abstract excerpt

Structural variants play a critical role in tumorigenesis. At present, these events are most commonly identified using short-read whole-genome sequencing data, and a number of computational tools are available for this purpose. Consensus approaches have been used to improve precision, but may reduce sensitivity. The optimal number and combination of callers remains unclear, in part due to the lack of gold standard...

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Literature Corpus work: c454d281-ab72-5a6a-aef7-8496a4ba5258
DOI: 10.1101/2025.07.01.662575

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