Article

Quantitative Optimization of Sensitivity and Specificity in Targeted and Whole-Exome Sequencing Using Reference-Standard DNA Mixtures

2026-01-27

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> We previously developed a benchmarking strategy using mixtures of homozygote and heterozygote DNAs as reference standards to simultaneously assess sensitivity and false positive (FP) error rates in targeted next-generation sequencing (T-NGS) and whole-exome sequencing (WES), revealing substantial variability across commercial platforms. However, optimal analytic conditions f...

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Literature Corpus work: 2763a224-7415-5941-a708-1fe55f6500c3
DOI: 10.64898/2026.01.25.701479

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