Article
Unravelling mutational signatures with plasma circulating tumour DNA.
Nature communications - 14 Nov 2024
Hollizeck Sebastian, Wang Ning, Wong Stephen Q, Litchfield Cassandra, Guinto Jerick, Ftouni Sarah, Rebello Richard, Kanwal Sehrish, Dong Ruining, Grimmond Sean, Sandhu Shahneen, Mileshkin Linda, Tothill Richard W, Chandrananda Dineika, Dawson Sarah-Jane
Abstract excerpt
The use of circulating tumour DNA (ctDNA) to profile mutational signatures represents a non-invasive opportunity for understanding cancer mutational processes. Here we present MisMatchFinder, a liquid biopsy approach for mutational signature detection using low-coverage whole-genome sequencing of ctDNA. Through analysis of 375 plasma samples across 9 cancers, we demonstrate that MisMatchFinder accurately infers...
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