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Article

Evaluating Bioinformatics Processing of Somatic Variant Detection in cfDNA Using Targeted Sequencing with UMIs.

International journal of molecular sciences - 24 Oct 2024

Lin Yixin, Rasmussen Mads Heilskov, Christensen Mikkel Hovden, Frydendahl Amanda, Maretty Lasse, Andersen Claus Lindbjerg, Besenbacher Søren

Abstract excerpt

Circulating tumor DNA (ctDNA) is a promising cancer biomarker, but accurately detecting tumor mutations in cell-free DNA (cfDNA) is challenging due to their low frequency and sequencing errors. Our study benchmarked Mutect2, VarScan2, shearwater, and DREAMS-vc using deep targeted sequencing of cfDNA with Unique Molecular Identifiers (UMIs) from 111 colorectal cancer patients. Performance was assessed at both the...

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Identifiers

PMID: 39518990
DOI: 10.3390/ijms252111439
PMCID: PMC11546253

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