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Benchmarking UMI-aware and standard variant callers for low frequency ctDNA variant detection.

BMC genomics - 3 Sept 2024

Maruzani Rugare, Brierley Liam, Jorgensen Andrea, Fowler Anna

Abstract excerpt

BACKGROUND: Circulating tumour DNA (ctDNA) is a subset of cell free DNA (cfDNA) released by tumour cells into the bloodstream. Circulating tumour DNA has shown great potential as a biomarker to inform treatment in cancer patients. Collecting ctDNA is minimally invasive and reflects the entire genetic makeup of a patient's cancer. ctDNA variants in NGS data can be difficult to distinguish from sequencing and PCR...

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Identifiers

PMID: 39227777
DOI: 10.1186/s12864-024-10737-w
PMCID: PMC11370058

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