| Title: |
Unravelling mutational signatures with plasma circulating tumour DNA |
| Authors: |
Hollizeck, S; Wang, N; Wong, SQ; Litchfield, C; Guinto, J; Ftouni, S; Rebello, R; Kanwal, S; Dong, R; Grimmond, S; Sandhu, S; Mileshkin, L; Tothill, RW; Chandrananda, D; Dawson, SJ |
| Publisher Information: |
Springer Science and Business Media LLC |
| Publication Year: |
2024 |
| Collection: |
The University of Melbourne: Digital Repository |
| 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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| ISSN: |
2041-1723 |
| Relation: |
NHMRC/1196755; NHMRC/2019655; https://hdl.handle.net/11343/359176 |
| Availability: |
https://hdl.handle.net/11343/359176 |
| Rights: |
https://creativecommons.org/licenses/by/4.0 ; CC BY |
| Accession Number: |
edsbas.B7344DD3 |
| Database: |
BASE |