{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hollizeck S"],"funding":["Department of Health | National Health and Medical Research Council (NHMRC)"],"pagination":["9876"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11564803"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(1)"],"pubmed_abstract":["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."],"journal":["Nature communications"],"pubmed_title":["Unravelling mutational signatures with plasma circulating tumour DNA."],"pmcid":["PMC11564803"],"funding_grant_id":["1196755","2019655"],"pubmed_authors":["Sandhu S","Guinto J","Wong SQ","Rebello R","Mileshkin L","Hollizeck S","Litchfield C","Tothill RW","Dawson SJ","Dong R","Grimmond S","Wang N","Ftouni S","Kanwal S","Chandrananda D"],"additional_accession":[]},"is_claimable":false,"name":"Unravelling mutational signatures with plasma circulating tumour DNA.","description":"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.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-06-02T03:36:21.298Z","creation":"2025-04-04T12:01:25.839Z"},"accession":"S-EPMC11564803","cross_references":{"pubmed":["39543119"],"doi":["10.1038/s41467-024-54193-2"]}}