Detecting Phylogenetic Breakpoints and Discordance from Genome-Wide Alignments for Species Tree Reconstruction

Abstract

With the easy acquisition of sequence data, it is now possible to obtain and align whole genomes across multiple related species or populations. In this work, I assess the performance of a statistical method to reconstruct the whole distribution of phylogenetic trees along the genome, estimate the proportion of the genome for which a given clade is true, and infer a concordance tree that summarizes the dominant vertical inheritance pattern. There are two main issues when dealing with whole-genome alignments, as opposed to multiple genes: the size of the data and the detection of recombination breakpoints. These breakpoints partition the genomic alignment into phylogenetically homogeneous loci, where sites within a given locus all share the same phylogenetic tree topology. To delimitate these loci, I describe here a method based on the minimum description length (MDL) principle, implemented with dynamic programming for computational efficiency. Simulations show that combining MDL partitioning with Bayesian concordance analysis provides an efficient and robust way to estimate both the vertical inheritance signal and the horizontal phylogenetic signal. The method performed well both in the presence of incomplete lineage sorting and in the presence of horizontal gene transfer. A high level of systematic bias was found here, highlighting the need for good individual tree building methods, which form the basis for more elaborate gene tree/species tree reconciliation methods.