Figure 6.

Estimated Mutation Rates from the Framingham Heart Study Data as a Function of the Average Heterozygosity of Included Variants

The dashed line represents the fitted regression line; the y axis intercept of this line gives an overall estimate of mutation rate that is adjusted for the effects of gene conversion. Points corresponding to maximum allele frequency thresholds of 0.1–0.5 are included in the regression (filled points on the plot), as lower thresholds may exclude some true mutations (open points on the plot). For each maximum allele frequency threshold, the average heterozygosity was calculated (x axis) and the mutation rate estimate was obtained (y axis).