Ancestral inference on gene trees under selection

The extent to which natural selection shapes diversity within populations is a key question for population genetics. Thus, there is considerable interest in quantifying the strength of selection. A full likelihood approach for inference about selection at a single site within an otherwise neutral fully linked sequence of sites is described here. A coalescent model of evolution is used to model the ancestry of a sample of DNA sequences which have the selected site segregating. The mutation model, for the selected and neutral sites, is the infinitely many-sites model where there is no back or parallel mutation at sites. A unique perfect phylogeny, a gene tree, can be constructed from the configuration of mutations on the sample sequences under this model of mutation. The approach is general and can be used for any bi-allelic selection scheme. Selection is incorporated through modelling the frequency of the selected and neutral allelic classes stochastically back in time, then using a subdivided population model considering the population frequencies through time as variable population sizes. An importance sampling algorithm is then used to explore over coalescent tree space consistent with the data. The method is applied to a simulated data set and the gene tree presented in Verrelli et al. (2002).