On the accuracy of language trees

Historical linguistics aims at inferring the most likely language phylogenetic tree starting from information concerning the evolutionary relatedness of languages. The available information are typically lists of homologous (lexical, phonological, syntactic) features or characters for many different languages. From this perspective the reconstruction of language trees is an example of inverse problems: starting from present, incomplete and often noisy, information, one aims at inferring the most likely past evolutionary history. A fundamental issue in inverse problems is the evaluation of the inference made. A standard way of dealing with this question is to generate data with artificial models in order to have full access to the evolutionary process one is going to infer. This procedure presents an intrinsic limitation: when dealing with real data sets, one typically does not know which model of evolution is the most suitable for them. A possible way out is to compare algorithmic inference with expert classifications. This is the point of view we take here by conducting a thorough survey of the accuracy of reconstruction methods as compared with the Ethnologue expert classifications. We focus in particular on state-of-the-art distance-based methods for phylogeny reconstruction using worldwide linguistic databases. In order to assess the accuracy of the inferred trees we introduce and characterize two generalizations of standard definitions of distances between trees. Based on these scores we quantify the relative performances of the distance-based algorithms considered. Further we quantify how the completeness and the coverage of the available databases affect the accuracy of the reconstruction. Finally we draw some conclusions about where the accuracy of the reconstructions in historical linguistics stands and about the leading directions to improve it.Comment: 36 pages, 14 figure

The generalized Robinson-Foulds metric

The Robinson-Foulds (RF) metric is arguably the most widely used measure of phylogenetic tree similarity, despite its well-known shortcomings: For example, moving a single taxon in a tree can result in a tree that has maximum distance to the original one; but the two trees are identical if we remove the single taxon. To this end, we propose a natural extension of the RF metric that does not simply count identical clades but instead, also takes similar clades into consideration. In contrast to previous approaches, our model requires the matching between clades to respect the structure of the two trees, a property that the classical RF metric exhibits, too. We show that computing this generalized RF metric is, unfortunately, NP-hard. We then present a simple Integer Linear Program for its computation, and evaluate it by an all-against-all comparison of 100 trees from a benchmark data set. We find that matchings that respect the tree structure differ significantly from those that do not, underlining the importance of this natural condition.Comment: Peer-reviewed and presented as part of the 13th Workshop on Algorithms in Bioinformatics (WABI2013

Learning Latent Tree Graphical Models

We study the problem of learning a latent tree graphical model where samples are available only from a subset of variables. We propose two consistent and computationally efficient algorithms for learning minimal latent trees, that is, trees without any redundant hidden nodes. Unlike many existing methods, the observed nodes (or variables) are not constrained to be leaf nodes. Our first algorithm, recursive grouping, builds the latent tree recursively by identifying sibling groups using so-called information distances. One of the main contributions of this work is our second algorithm, which we refer to as CLGrouping. CLGrouping starts with a pre-processing procedure in which a tree over the observed variables is constructed. This global step groups the observed nodes that are likely to be close to each other in the true latent tree, thereby guiding subsequent recursive grouping (or equivalent procedures) on much smaller subsets of variables. This results in more accurate and efficient learning of latent trees. We also present regularized versions of our algorithms that learn latent tree approximations of arbitrary distributions. We compare the proposed algorithms to other methods by performing extensive numerical experiments on various latent tree graphical models such as hidden Markov models and star graphs. In addition, we demonstrate the applicability of our methods on real-world datasets by modeling the dependency structure of monthly stock returns in the S&P index and of the words in the 20 newsgroups dataset

Unfolding Latent Tree Structures using 4th Order Tensors

Discovering the latent structure from many observed variables is an important yet challenging learning task. Existing approaches for discovering latent structures often require the unknown number of hidden states as an input. In this paper, we propose a quartet based approach which is \emph{agnostic} to this number. The key contribution is a novel rank characterization of the tensor associated with the marginal distribution of a quartet. This characterization allows us to design a \emph{nuclear norm} based test for resolving quartet relations. We then use the quartet test as a subroutine in a divide-and-conquer algorithm for recovering the latent tree structure. Under mild conditions, the algorithm is consistent and its error probability decays exponentially with increasing sample size. We demonstrate that the proposed approach compares favorably to alternatives. In a real world stock dataset, it also discovers meaningful groupings of variables, and produces a model that fits the data better

Exploring Complex Disease Gene Relationships Using Simultaneous Analysis

The characterization of complex diseases remains a great challenge for biomedical researchers due to the myriad interactions of genetic and environmental factors. Adaptation of phylogenomic techniques to increasingly available genomic data provides an evolutionary perspective that may elucidate important unknown features of complex diseases. Here an automated method is presented that leverages publicly available genomic data and phylogenomic techniques. The approach is tested with nine genes implicated in the development of Alzheimer Disease, a complex neurodegenerative syndrome. The developed technique, which is an update to a previously described Perl script called “ASAP,” was implemented through a suite of Ruby scripts entitled “ASAP2,” first compiles a list of sequence-similarity based orthologues using PSI-BLAST and a recursive NCBI BLAST+ search strategy, then constructs maximum parsimony phylogenetic trees for each set of nucleotide and protein sequences, and calculates phylogenetic metrics (partitioned Bremer support values, combined branch scores, and Robinson-Foulds distance) to provide an empirical assessment of evolutionary conservation within a given genetic network. This study demonstrates the potential for using automated simultaneous phylogenetic analysis to uncover previously unknown relationships among disease-associated genes that may not have been apparent using traditional, single-gene methods. Furthermore, the results provide the first integrated evolutionary history of an Alzheimer Disease gene network and identify potentially important co-evolutionary clustering around components of oxidative stress pathways