Comparison between expected and observed mean allele frequencies of recessive, lethal disease mutations.

<p>(A) Shown are the expected and observed mean sample frequencies of disease mutations for four different mutation types. The title of the panel indicates the mutation type, followed by <i>K</i>, the total number of mutations of that type considered in this study, with the p-value for the difference between observed and expected mean frequencies given below. Distributions in grey are the mean sample allele frequencies across <i>K</i> mutations based on 100,000 simulations, and rely on a plausible demographic model for European populations [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1006915#pgen.1006915.ref025" target="_blank">25</a>] (see <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1006915#sec009" target="_blank">Methods</a>). Blue bars represent the observed mean frequencies of the four mutation types, estimated from 33,370 individuals of European ancestry from ExAC. (B) Fold increase in the observed mean allele frequency in relation to the expected, as a function of the mutation rate <i>u</i> (on a log-scale), for each of the four mutation classes.