A simple method to estimate the in-house limit of detection for genetic mutations with low allele frequencies in whole-exome sequencing analysis by next-generation sequencing.

BMC Genom Data · 2021 · PMC7893872 · PMID 33602132

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showed a trendno p-value reported

S 1 A–S 1 D, all moving average curves at different sequencing data sizes showed a trend where %RSD decreased as the mean WES-AF increased, allowing objective evaluation of measurement error variations of the determined AFs.

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a decreasing trendno p-value reported

The relationship between the average WES-AF and its %RSD value of quadruplicate technical replicates was evaluated by creating scatter plots of the %RSD values against the average values of each WES-AF and by drawing a moving average curve based on these scatter plots; accordingly, a decreasing trend of %RSD value was identified as the average WES-AF value increased (Figs. 4 and S 1 ).

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