Inferring evolutionary trees with strong combinatorial evidence

We consider the problem of inferring the evolutionary tree of a set of n species. We propose a quartet reconstruction method which specifically produces trees whose edges have strong combinatorial evidence. Let Q be a set of resolved quartets defined on the studied species, the method computes the unique maximum subset Q* of Q which is equivalent to a tree and outputs the corresponding tree as an estimate of the species' phylogeny. We use a characterization of the subset Q* due to (Bandelt86) to provide an O(n4) incremental algorithm for this variant of the NP-hard quartet consistency problem. Moreover, when chosing the resolution of the quartets by the Four-Point Method (FPM) and considering the Cavender-Farris model of evolution, we show that the convergence rate of the Q* method is at worst polynomial when the maximum evolutive distance between two species is bounded. We complete these theoretical results by an experimental study on real and simulated data sets. The results show that (i) as expected, the strong combinatorial constraints it imposes on each edge leads the Q* method to propose very few incorrect edges; (ii) more surprisingly, the method infers trees with a relatively high degree of resolution

Fast and scalable inference of multi-sample cancer lineages.

Somatic variants can be used as lineage markers for the phylogenetic reconstruction of cancer evolution. Since somatic phylogenetics is complicated by sample heterogeneity, novel specialized tree-building methods are required for cancer phylogeny reconstruction. We present LICHeE (Lineage Inference for Cancer Heterogeneity and Evolution), a novel method that automates the phylogenetic inference of cancer progression from multiple somatic samples. LICHeE uses variant allele frequencies of somatic single nucleotide variants obtained by deep sequencing to reconstruct multi-sample cell lineage trees and infer the subclonal composition of the samples. LICHeE is open source and available at http://viq854.github.io/lichee

Polyhedral geometry of Phylogenetic Rogue Taxa

It is well known among phylogeneticists that adding an extra taxon (e.g. species) to a data set can alter the structure of the optimal phylogenetic tree in surprising ways. However, little is known about this "rogue taxon" effect. In this paper we characterize the behavior of balanced minimum evolution (BME) phylogenetics on data sets of this type using tools from polyhedral geometry. First we show that for any distance matrix there exist distances to a "rogue taxon" such that the BME-optimal tree for the data set with the new taxon does not contain any nontrivial splits (bipartitions) of the optimal tree for the original data. Second, we prove a theorem which restricts the topology of BME-optimal trees for data sets of this type, thus showing that a rogue taxon cannot have an arbitrary effect on the optimal tree. Third, we construct polyhedral cones computationally which give complete answers for BME rogue taxon behavior when our original data fits a tree on four, five, and six taxa. We use these cones to derive sufficient conditions for rogue taxon behavior for four taxa, and to understand the frequency of the rogue taxon effect via simulation.Comment: In this version, we add quartet distances and fix Table 4

BOOL-AN: A method for comparative sequence analysis and phylogenetic reconstruction

A novel discrete mathematical approach is proposed as an additional tool for molecular systematics which does not require prior statistical assumptions concerning the evolutionary process. The method is based on algorithms generating mathematical representations directly from DNA/RNA or protein sequences, followed by the output of numerical (scalar or vector) and visual characteristics (graphs). The binary encoded sequence information is transformed into a compact analytical form, called the Iterative Canonical Form (or ICF) of Boolean functions, which can then be used as a generalized molecular descriptor. The method provides raw vector data for calculating different distance matrices, which in turn can be analyzed by neighbor-joining or UPGMA to derive a phylogenetic tree, or by principal coordinates analysis to get an ordination scattergram. The new method and the associated software for inferring phylogenetic trees are called the Boolean analysis or BOOL-AN