Evaluation of false positive and false negative errors in targeted next generation sequencing.

ABSTRACT:

Background

Next-generation sequencing (NGS) has become an indispensable diagnostic tool across various diseases. However, sequencing and analysis errors remain major barriers to clinical implementation. In cancer diagnostics, detecting low-level somatic variants is particularly challenging due to tumor heterogeneity and contamination from normal cells.

Results

We assess targeted next-generation sequencing (T-NGS) performance using reference-standard DNA mixtures of homozygote hydatidiform mole and heterozygote blood DNA at varying ratios, analyzed by certified NGS providers. Analytical sensitivity differs by up to 13.9-fold, and false positive (FP) error rates vary up to 615-fold, depending on provider and pipeline. For identical raw data, DRAGEN and the in-house pipeline di

SUBMITTER: Moon Y 

PROVIDER: S-EPMC12670792 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature