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Article

Clinical application of tumour-in-normal contamination assessment from whole genome sequencing.

Nature communications - 18 Jan 2024

Mitchell Jonathan, Milite Salvatore, Bartram Jack, Walker Susan, Volkova Nadezda, Yavorska Olena, Zarowiecki Magdalena, Chalker Jane, Thomas Rebecca, Vago Luca, Sosinsky Alona, Caravagna Giulio

Abstract excerpt

The unexpected contamination of normal samples with tumour cells reduces variant detection sensitivity, compromising downstream analyses in canonical tumour-normal analyses. Leveraging whole-genome sequencing data available at Genomics England, we develop a tool for normal sample contamination assessment, which we validate in silico and against minimal residual disease testing. From a systematic review of...

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Identifiers

PMID: 38238294
DOI: 10.1038/s41467-023-44158-2
PMCID: PMC10796348

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