Figure 2. Accurate estimation of STR mutation parameters from simulated data.
(a) Per-locus estimates of mutation rate. Dashed gray lines give boundaries enforced during numerical optimization. (b) Jointly estimating parameters across loci allows inference of low mutation rates. Black lines give joint estimates for different simulated mutation rates. Dashed gray lines give simulated values. (c) Y-STR mutation rate parameters are concordant across estimation methods. Mutation rate estimates from this study compared to those generated by MUTEA. Gray dashed lines denote the diagonal (N=41). (d) Autosomal mutation rate estimates are concordant with de novo studies. Histograms gives the distribution of per-locus mutation rates estimated by this study. Dashed lines give median estimates across loci. Solid lines give empirical mutation rates from trio data analyzed by Sun et al.15