Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays.

ABSTRACT:

Background

Liquid biopsy enables the non-invasive analysis of genetic tumor variants in circulating free DNA (cfDNA) in plasma. Accurate analytical validation of liquid biopsy NGS assays is required to detect variants with low variant allele frequencies (VAFs).

Methods

Six types of commercial cfDNA reference materials and 42 patient samples were analyzed using a duplex-sequencing-based liquid biopsy NGS assay.

Results

We comprehensively evaluated the similarity of commercial cfDNA reference materials to native cfDNA. We observed significant differences between the reference materials in terms of wet-lab and sequencing quality as well as background noise. No reference material resembled native cfDNA in all performance metrics investigated. Based on our results, we esta

SUBMITTER: Hallermayr A 

PROVIDER: S-EPMC10605119 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature