While hidden class models of various types arise in many statistical applications, it is often difficult to establish the identifiability of their parameters. Focusing on models in which there is some structure of independence of some of the observed variables conditioned on hidden ones, we demonstrate a general approach for establishing identifiability utilizing algebraic arguments. A theorem of J. Kruskal for a simple latent-class model with finite state space lies at the core of our results, though we apply it to a diverse set of models. These include mixtures of both finite and nonparametric product distributions, hidden Markov models and random graph mixture models, and lead to a number of new results and improvements to old ones.In the parametric setting, this approach indicates that for such models, the classical definition of identifiability is typically too strong. Instead generic identifiability holds, which implies that the set of nonidentifiable parameters has measure zero, so that parameter inference is still meaningful. In particular, this sheds light on the properties of finite mixtures of Bernoulli products, which have been used for decades despite being known to have nonidentifiable parameters. In the nonparametric setting, we again obtain identifiability only when certain restrictions are placed on the distributions that are mixed, but we explicitly describe the conditions.

Gene trees are evolutionary trees representing the ancestry of genes sampled from multiple populations. Species trees represent populations of individuals-each with many genes-splitting into new populations or species. The coalescent process, which models ancestry of gene copies within populations, is often used to model the probability distribution of gene trees given a fixed species tree. This multispecies coalescent model provides a framework for phylogeneticists to infer species trees from gene trees using maximum likelihood or Bayesian approaches. Because the coalescent models a branching process over time, all trees are typically assumed to be rooted in this setting. Often, however, gene trees inferred by traditional phylogenetic methods are unrooted. We investigate probabilities of unrooted gene trees under the multispecies coalescent model. We show that when there are four species with one gene sampled per species, the distribution of unrooted gene tree topologies identifies the unrooted species tree topology and some, but not all, information in the species tree edges (branch lengths). The location of the root on the species tree is not identifiable in this situation. However, for 5 or more species with one gene sampled per species, we show that the distribution of unrooted gene tree topologies identifies the rooted species tree topology and all its internal branch lengths. The length of any pendant branch leading to a leaf of the species tree is also identifiable for any species from which more than one gene is sampled.

The general Markov model of the evolution of biological sequences along a tree leads to a parameterization of an algebraic variety. Understanding this variety and the polynomials, called phylogenetic invariants, which vanish on it, is a problem within the broader area of Algebraic Statistics. For an arbitrary trivalent tree, we determine the full ideal of invariants for the 2-state model, establishing a conjecture of Pachter-Sturmfels. For the κ-state model, we reduce the problem of determining a defining set of polynomials to that of determining a defining set for a 3-leaf tree. Along the way, we prove several new cases of a conjecture of Garcia-Stillman-Sturmfels on certain statistical models on star trees, and reduce their conjecture to a family of subcases.

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For a model of molecular evolution to be useful for phylogenetic inference, the topology of evolutionary trees must be identifiable. That is, from a joint distribution the model predicts, it must be possible to recover the tree parameter. We establish tree identifiability for a number of phylogenetic models, including a covarion model and a variety of mixture models with a limited number of classes. The proof is based on the introduction of a more general model, allowing more states at internal nodes of the tree than at leaves, and the study of the algebraic variety formed by the joint distributions to which it gives rise. Tree identifiability is first established for this general model through the use of certain phylogenetic invariants.

We prove identifiability of parameters for a broad class of random graph mixture models. These models are characterized by a partition of the set of graph nodes into latent (unobservable) groups. The connectivities between nodes are independent random variables when conditioned on the groups of the nodes being connected. In the binary random graph case, in which edges are either present or absent, these models are known as stochastic blockmodels and have been widely used in the social sciences and, more recently, in biology. Their generalizations to weighted random graphs, either in parametric or non-parametric form, are also of interest in many areas. Despite a broad range of applications, the parameter identifiability issue for such models is involved, and previously has only been touched upon in the literature. We give here a thorough investigation of this problem. Our work also has consequences for parameter estimation. In particular, the estimation procedure proposed by Frank and Harary for binary affiliation models is revisited in this article.

Phylogenetic data arising on two possibly different tree topologies might be mixed through several biological mechanisms, including incomplete lineage sorting or horizontal gene transfer in the case of different topologies, or simply different substitution processes on characters in the case of the same topology. Recent work on a 2-state symmetric model of character change showed that for 4 taxa, such a mixture model has nonidentifiable parameters, and thus, it is theoretically impossible to determine the two tree topologies from any amount of data under such circumstances. Here, the question of identifiability is investigated for two-tree mixtures of the 4-state group-based models, which are more relevant to DNA sequence data. Using algebraic techniques, we show that the tree parameters are identifiable for the JC and K2P models. We also prove that generic substitution parameters for the JC mixture models are identifiable, and for the K2P and K3P models obtain generic identifiability results for mixtures on the same tree. This indicates that the full phylogenetic signal remains in such mixtures, and the 2-state symmetric result is thus a misleading guide to the behavior of other models.

Detecting variation in the evolutionary process along chromosomes is increasingly important as whole-genome data become more widely available. For example, factors such as incomplete lineage sorting, horizontal gene transfer, and chromosomal inversion are expected to result in changes in the underlying gene trees along a chromosome, while changes in selective pressure and mutational rates for different genomic regions may lead to shifts in the underlying mutational process. We propose the split score as a general method for quantifying support for a particular phylogenetic relationship within a genomic data set. Because the split score is based on algebraic properties of a matrix of site pattern frequencies, it can be rapidly computed, even for data sets that are large in the number of taxa and/or in the length of the alignment, providing an advantage over other methods (e.g., maximum likelihood) that are often used to assess such support. Using simulation, we explore the properties of the split score, including its dependence on sequence length, branch length, size of a split and its ability to detect true splits in the underlying tree. Using a sliding window analysis, we show that split scores can be used to detect changes in the underlying evolutionary process for genome-scale data from primates, mosquitoes, and viruses in a computationally efficient manner. Computation of the split score has been implemented in the software package SplitSup.