Recently, the perfect phylogeny model with persistent characters has attracted great attention in the literature. It is based on the assumption that complex traits or characters can only be gained once and lost once in the course of evolution. Here, we consider a generalization of this model, namely Dollo parsimony, that allows for multiple character losses. More precisely, we take a combinatorial perspective on the notion of Dollo-$k$ characters, i.e. traits that are gained at most once and lost precisely $k$ times throughout evolution. We first introduce an algorithm based on the notion of spanning subtrees for finding a Dollo-$k$ labeling for a given character and a given tree in linear time. We then compare persistent characters (consisting of the union of Dollo-0 and Dollo-1 characters) and general Dollo-$k$ characters. While it is known that there is a strong connection between Fitch parsimony and persistent characters, we show that Dollo parsimony and Fitch parsimony are in general very different. Moreover, while it is known that there is a direct relationship between the number of persistent characters and the Sackin index of a tree, a popular index of tree balance, we show that this relationship does not generalize to Dollo-$k$ characters. In fact, determining the number of Dollo-$k$ characters for a given tree is much more involved than counting persistent characters, and we end this manuscript by introducing a recursive approach for the former. This approach leads to a polynomial time algorithm for counting the number of Dollo-$k$ characters, and both this algorithm as well as the algorithm for computing Dollo-$k$ labelings are publicly available in the Babel package for BEAST 2.
Phylogenetic diversity indices provide a formal way to apportion 'evolutionary heritage' across species. Two natural diversity indices are Fair Proportion (FP) and Equal Splits (ES). FP is also called 'evolutionary distinctiveness' and, for rooted trees, is identical to the Shapley Value (SV), which arises from cooperative game theory. In this paper, we investigate the extent to which FP and ES can differ, characterise tree shapes on which the indices are identical, and study the equivalence of FP and SV and its implications in more detail. We also define and investigate analogues of these ind…
The so-called binary perfect phylogeny with persistent characters has recently been thoroughly studied in computational biology as it is less restrictive than the well known binary perfect phylogeny. Here, we focus on the notion of (binary) persistent characters, i.e. characters that can be realized on a phylogenetic tree by at most one $0 \rightarrow 1$ transition followed by at most one $1 \rightarrow 0$ transition in the tree, and analyze these characters under different aspects. First, we illustrate the connection between persistent characters and Maximum Parsimony, where we characterize p…
Construction of phylogenetic trees and networks for extant species from their characters represents one of the key problems in phylogenomics. While solution to this problem is not always uniquely defined and there exist multiple methods for tree/network construction, it becomes important to measure how well the constructed networks capture the given character relationship across the species. In the current study, we propose a novel method for measuring the specificity of a given phylogenetic network in terms of the total number of distributions of character states at the leaves that the networ…
A phylogenetic tree is an acyclic graph with distinctly labeled leaves, whose internal edges have a positive weight. Given a set of n leaves, the collection of all phylogenetic trees with this leaf set can be assembled into a metric cube complex known as phylogenetic tree space, or Billera-Holmes-Vogtmann tree space. In this largely combinatorial paper, we show that the isometry group of this space is the symmetric group on n elements. This fact is relevant to distance-based analyses of phylogenetic tree sets.
We describe Galois connections which arise between two kinds of combinatorial structures, both of which generalize trees with labelled leaves, and then apply those connections to a family of polytopes. The graphs we study can be imbued with metric properties or associated to vectors. Famous examples are the Billera-Holmes-Vogtmann metric space of phylogenetic trees, and the Balanced Minimal Evolution polytopes of phylogenetic trees described by Eickmeyer, Huggins, Pachter and Yoshida. Recently the space of trees has been expanded to split networks by Devadoss and Petti, while the definition of…
The phylogenetic tree space introduced by Billera, Holmes, and Vogtmann (BHV tree space) is a CAT(0) continuous space that represents trees with edge weights with an intrinsic geodesic distance measure. The geodesic distance measure unique to BHV tree space is well known to be computable in polynomial time, which makes it a potentially powerful tool for optimization problems in phylogenetics and phylogenomics. Specifically, there is significant interest in comparing and combining phylogenetic trees. For example, BHV tree space has been shown to be potentially useful in tree summary and consens…
Many discrete mathematics problems in phylogenetics are defined in terms of the relative labeling of pairs of leaf-labeled trees. These relative labelings are naturally formalized as tanglegrams, which have previously been an object of study in coevolutionary analysis. Although there has been considerable work on planar drawings of tanglegrams, they have not been fully explored as combinatorial objects until recently. In this paper, we describe how many discrete mathematical questions on trees "factor" through a problem on tanglegrams, and how understanding that factoring can simplify analysis…
The edge-product space of phylogenetic trees is a regular CW complex whose maximal closed cells correspond to trivalent trees with leaves labeled by a finite set $X$. The face poset of this cell decomposition is isomorphic to the Tuffley poset, a poset of labeled forests, with a unique minimum adjoined. We show that the edge-product space of phylogenetic trees is gallery-connected. We then use combinatorial properties of the Tuffley poset and a related graph known as NNI-tree space to show that, although open intervals of the Tuffley poset were proven to be shellable by Gill, Linusson, Moulton…
We study the Bergman complex B(M) of a matroid M: a polyhedral complex which arises in algebraic geometry, but which we describe purely combinatorially. We prove that a natural subdivision of the Bergman complex of M is a geometric realization of the order complex of its lattice of flats. In addition, we show that the Bergman fan B'(K_n) of the graphical matroid of the complete graph K_n is homeomorphic to the space of phylogenetic trees T_n.
Group-based models appear in algebraic statistics as mathematical models coming from evolutionary biology, respectively the study of mutations of organisms. Both theoretically and in terms of applications, we are interested in determining the algebraic degrees of the phylogenetic varieties coming from these models. These algebraic degrees are called phylogenetic degrees. In this paper, we compute the phylogenetic degree of the variety $X_{G, n}$ with $G\in\{\mathbb{Z}_2,\mathbb{Z}_2\times\mathbb{Z}_2, \mathbb{Z}_3\}$ and any $n$-claw tree. As these varieties are toric, computing their phylogen…
In recent decades, phylogenetic networks have become a standard tool in modeling evolutionary processes. Nevertheless, basic combinatorial questions about them are still largely open. For instance, even the asymptotic counting problem for the class of phylogenetic networks and subclasses is unsolved. In this paper, we propose a method based on generating functions to count networks with few reticulation vertices for two subclasses which are important in applications: tree-child networks and normal networks. In particular, our method can be used to completely solve the asymptotic counting probl…
Distance-based phylogenetic algorithms attempt to solve the NP-hard least squares phylogeny problem by mapping an arbitrary dissimilarity map representing biological data to a tree metric. The set of all dissimilarity maps is a Euclidean space properly containing the space of all tree metrics as a polyhedral fan. Outputs of distance-based tree reconstruction algorithms such as UPGMA and Neighbor-Joining are points in the maximal cones in the fan. Tree metrics with polytomies lie at the intersections of maximal cones. A phylogenetic algorithm divides the space of all dissimilarity maps into reg…
We study the behavior of phylogenetic tree shapes in the tropical geometric interpretation of tree space. Tree shapes are formally referred to as tree topologies; a tree topology can also be thought of as a tree combinatorial type, which is given by the tree's branching configuration and leaf labeling. We use the tropical line segment as a framework to define notions of variance as well as invariance of tree topologies: we provide a combinatorial search theorem that describes all tree topologies occurring along a tropical line segment, as well as a setting under which tree topologies do not ch…
The metric space of phylogenetic trees defined by Billera, Holmes, and Vogtmann, which we refer to as BHV space, provides a natural geometric setting for describing collections of trees on the same set of taxa. However, it is sometimes necessary to analyze collections of trees on non-identical taxa sets (i.e., with different numbers of leaves), and in this context it is not evident how to apply BHV space. Davidson et al. recently approached this problem by describing a combinatorial algorithm extending tree topologies to regions in higher dimensional tree spaces, so that one can quickly comput…
Billey et al. [arXiv:1507.04976] have recently discovered a surprisingly simple formula for the number $a_n(σ)$ of leaf-labelled rooted non-embedded binary trees (also known as phylogenetic trees) with $n\geq 1$ leaves, fixed (for the relabelling action) by a given permutation $σ\in\frak{S}_n$. Denoting by $λ\vdash n$ the integer partition giving the sizes of the cycles of $σ$ in non-increasing order, they show by a guessing/checking approach that if $λ$ is a binary partition (it is known that $a_n(σ)=0$ otherwise), then $$ a_n(σ)=\prod_{i=2}^{\ell(λ)}(2(λ_i+\cdots+λ_{\ell(λ)})-1), $$ and they…
In Chapter 1 we fully characterise pairs of finite graphs which form a gap in the full homomorphism order. This leads to a simple proof of the existence of generalised duality pairs. We also discuss how such results can be carried to relational structures with unary and binary relations. In Chapter 2 we show a very simple and versatile argument based on divisibility which immediately yields the universality of the homomorphism order of directed graphs and discuss three applications. In chapter 3, we show that every interval in the homomorphism order of finite undirected graphs is either univer…
Rooted phylogenetic networks provide an explicit representation of the evolutionary history of a set $X$ of sampled species. In contrast to phylogenetic trees which show only speciation events, networks can also accommodate reticulate processes (for example, hybrid evolution, endosymbiosis, and lateral gene transfer). A major goal in systematic biology is to infer evolutionary relationships, and while phylogenetic trees can be uniquely determined from various simple combinatorial data on $X$, for networks the reconstruction question is much more subtle. Here we ask when can a network be unique…
Trees with labelled leaves and with all other vertices of degree three play an important role in systematic biology and other areas of classification. A classical combinatorial result ensures that such trees can be uniquely reconstructed from the distances between the leaves (when the edges are given any strictly positive lengths). Moreover, a linear number of these pairwise distance values suffices to determine both the tree and its edge lengths. A natural set of pairs of leaves is provided by any `triplet cover' of the tree (based on the fact that each non-leaf vertex is the median vertex of…
A recurring theme in the least squares approach to phylogenetics has been the discovery of elegant combinatorial formulas for the least squares estimates of edge lengths. These formulas have proved useful for the development of efficient algorithms, and have also been important for understanding connections among popular phylogeny algorithms. For example, the selection criterion of the neighbor-joining algorithm is now understood in terms of the combinatorial formulas of Pauplin for estimating tree length. We highlight a phylogenetically desirable property that weighted least squares methods s…
Tree-child networks are a recently-described class of directed acyclic graphs that have risen to prominence in phylogenetics (the study of evolutionary trees and networks). Although these networks have a number of attractive mathematical properties, many combinatorial questions concerning them remain intractable. In this paper, we show that endowing these networks with a biologically relevant ranking structure yields mathematically tractable objects, which we term ranked tree-child networks (RTCNs). We explain how to derive exact and explicit combinatorial results concerning the enumeration an…
In biology, a phylogenetic tree is a tool to represent the evolutionary relationship between species. Unfortunately, the classical Schröder tree model is not adapted to take into account the chronology between the branching nodes. In particular, it does not answer the question: how many different phylogenetic stories lead to the creation of n species and what is the average time to get there? In this paper, we enrich this model in two distinct ways in order to obtain two ranked tree models for phylogenetics, i.e. models coding chronology. For that purpose, we first develop a model of (strongly…
The Neighbor-Joining algorithm is a popular distance-based phylogenetic method that computes a tree metric from a dissimilarity map arising from biological data. Realizing dissimilarity maps as points in Euclidean space, the algorithm partitions the input space into polyhedral regions indexed by the combinatorial type of the trees returned. A full combinatorial description of these regions has not been found yet; different sequences of Neighbor-Joining agglomeration events can produce the same combinatorial tree, therefore associating multiple geometric regions to the same algorithmic output. …
Motivated by applications to low-rank matrix completion, we give a combinatorial characterization of the independent sets in the algebraic matroid associated to the collection of $m\times n$ rank-2 matrices and $n\times n$ skew-symmetric rank-2 matrices. Our approach is to use tropical geometry to reduce this to a problem about phylogenetic trees which we then solve. In particular, we give a combinatorial description of the collections of pairwise distances between several taxa that may be arbitrarily prescribed while still allowing the resulting dissimilarity map to be completed to a tree met…
Here we present a new fixed parameter tractable algorithm to compute the hybridization number r of two rooted, not necessarily binary phylogenetic trees on taxon set X in time (6^r.r!).poly(n)$, where n=|X|. The novelty of this approach is its use of terminals, which are maximal elements of a natural partial order on X, and several insights from the softwired clusters literature. This yields a surprisingly simple and practical bounded-search algorithm and offers an alternative perspective on the underlying combinatorial structure of the hybridization number problem.
In this paper we consider two aspects of the inverse problem of how to construct merge trees realizing a given barcode. Much of our investigation exploits a recently discovered connection between the symmetric group and barcodes in general position, based on the simple observation that death order is a permutation of birth order. The first important outcome of our study is a clear combinatorial distinction between the space of phylogenetic trees (as defined by Billera, Holmes and Vogtmann) and the space of merge trees. Generic BHV trees on $n+1$ leaf nodes fall into $(2n-1)!!$ distinct strata,…
The tree metric theorem provides a combinatorial four point condition that characterizes dissimilarity maps derived from pairwise compatible split systems. A similar (but weaker) four point condition characterizes dissimilarity maps derived from circular split systems (Kalmanson metrics). The tree metric theorem was first discovered in the context of phylogenetics and forms the basis of many tree reconstruction algorithms, whereas Kalmanson metrics were first considered by computer scientists, and are notable in that they are a non-trivial class of metrics for which the traveling salesman prob…
Generalizing matrix representations to fully heterochronous ranked tree shapes
Fred Hutchinson Cancer Research Center（弗雷德·哈钦森癌症研究中心）；Howard Hughes Medical Institute（霍华德·休斯医学研究所）；Stanford University（斯坦福大学）；Stanford School of Medicine（斯坦福医学院）；University of Washington（华盛顿大学）
We present two algorithms for computing the geodesic distance between phylogenetic trees in tree space, as introduced by Billera, Holmes, and Vogtmann (2001). We show that the possible combinatorial types of shortest paths between two trees can be compactly represented by a partially ordered set. We calculate the shortest distance along each candidate path by converting the problem into one of finding the shortest path through a certain region of Euclidean space. In particular, we show there is a linear time algorithm for finding the shortest path between a point in the all positive orthant an…
