Benchmarking UMI-aware and standard variant callers for low frequency ctDNA variant detection
Our results indicate UMI-aware variant callers have potential to improve sensitivity and specificity in calling low frequency ctDNA variants over standard variant calling tools. There is a growing need for further development of UMI-aware variant calling tools if effective early detection methods for cancer using ctDNA samples are to be realised.
Authors
- Anna Fowler (ORCID: https://orcid.org/0000-0003-1793-0047)
- Rugare Maruzani
- Liam Brierley (ORCID: https://orcid.org/0000-0002-3026-4723)
- Andrea Jorgensen (ORCID: https://orcid.org/0000-0002-6977-9337)
Institutions
- University of Liverpool (GB)
- MRC University of Glasgow Centre for Virus Research (GB)
Publication Details
- Journal
- BMC Genomics
- Published
- 2024-09-03
- DOI
- https://doi.org/10.1186/s12864-024-10737-w
- Citations
- 9
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 2.57
Funders
- Medical Research Council