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

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

Abstract 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 entir...

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Bibliographic Details
Main Authors: Rugare Maruzani, Liam Brierley, Andrea Jorgensen, Anna Fowler
Format: Article
Language:English
Published: BMC 2024-09-01
Series:BMC Genomics
Subjects:
Variant calling
ctDNA
Next generation sequencing
Cancer
Online Access:https://doi.org/10.1186/s12864-024-10737-w

Internet

https://doi.org/10.1186/s12864-024-10737-w

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