Article

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

2022-03-11

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 771 pati...

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Literature Corpus work: d62d9f07-6e0b-55a0-aa23-7e20192aced8
DOI: 10.1101/2022.03.09.483623

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