Figure 1:

Influence of genotype quality (GQ) thresholds on mutation rate estimates. Bergeron et al. found that varying their GQ threshold from 10 to 90 led to mean mutation rate estimates ranging from >1.1 × 10^–8 to <0.7 × 10^–8 per base pair per generation in their trios (highlighted in red), as adapted from Bergeron et al. [10]. Because this criterion can lead to systematic biases in rate estimates, rather than choosing this filtering threshold arbitrarily, the sensitivity and specificity of the detection pipeline should be evaluated using simulations and/or benchmarking datasets for which the “ground truth” is known.