The space of phylogenetic mixtures for equivariant models.

BACKGROUND: The selection of an evolutionary model to best fit given molecular data is usually a heuristic choice. In his seminal book, J. Felsenstein suggested that certain linear equations satisfied by the expected probabilities of patterns observed at the leaves of a phylogenetic tree could be used for model selection. It remained an open question, however, whether these equations were sufficient to fully characterize the evolutionary model under consideration. RESULTS: Here we prove that, for most equivariant models of evolution, the space of distributions satisfying these linear equations coincides with the space of distributions arising from mixtures of trees. In other words, we prove that the evolution of an observed multiple sequence alignment can be modeled by a mixture of phylogenetic trees under an equivariant evolutionary model if and only if the distribution of patterns at its columns satisfies the linear equations mentioned above. Moreover, we provide a set of linearly independent equations defining this space of phylogenetic mixtures for each equivariant model and for any number of taxa. Lastly, we use these results to perform a study of identifiability of phylogenetic mixtures. CONCLUSIONS: The space of phylogenetic mixtures under equivariant models is a linear space that fully characterizes the evolutionary model. We provide an explicit algorithm to obtain the equations defining these spaces for a number of models and taxa. Its implementation has proved to be a powerful tool for model selection.

GenNon-h: generating multiple sequence alignments on nonhomogeneous phylogenetic trees.

BACKGROUND: A number of software packages are available to generate DNA multiple sequence alignments (MSAs) evolved under continuous-time Markov processes on phylogenetic trees. On the other hand, methods of simulating the DNA MSA directly from the transition matrices do not exist. Moreover, existing software restricts to the time-reversible models and it is not optimized to generate nonhomogeneous data (i.e. placing distinct substitution rates at different lineages). RESULTS: We present the first package designed to generate MSAs evolving under discrete-time Markov processes on phylogenetic trees, directly from probability substitution matrices. Based on the input model and a phylogenetic tree in the Newick format (with branch lengths measured as the expected number of substitutions per site), the algorithm produces DNA alignments of desired length. GenNon-h is publicly available for download. CONCLUSION: The software presented here is an efficient tool to generate DNA MSAs on a given phylogenetic tree. GenNon-h provides the user with the nonstationary or nonhomogeneous phylogenetic data that is well suited for testing complex biological hypotheses, exploring the limits of the reconstruction algorithms and their robustness to such models.