biostudies-literatureHollizeck SDepartment of Health | National Health and Medical Research Council (NHMRC)9876https://www.ebi.ac.uk/biostudies/studies/S-EPMC11564803biostudies-literatureUnknown15(1)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 single-base and doublet-base substitutions, as well as insertions and deletions to enhance the detection of ctDNA and clinically relevant mutational signatures.Nature communicationsUnravelling mutational signatures with plasma circulating tumour DNA.PMC1156480311967552019655Sandhu SGuinto JWong SQRebello RMileshkin LHollizeck SLitchfield CTothill RWDawson SJDong RGrimmond SWang NFtouni SKanwal SChandrananda DfalseUnravelling mutational signatures with plasma circulating tumour DNA.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 single-base and doublet-base substitutions, as well as insertions and deletions to enhance the detection of ctDNA and clinically relevant mutational signatures.2024-01-01T00:00:00Z2024 Nov2026-06-02T03:36:21.298Z2025-04-04T12:01:25.839ZS-EPMC115648033954311910.1038/s41467-024-54193-2