arXiv subjects

Mareike Fischer

Publications and source records attributed to Mareike Fischer.

At least 37 records · Page 2Linked to original sources

arXiv2022

Defining binary phylogenetic trees using parsimony

Phylogenetic (i.e. leaf-labeled) trees play a fundamental role in evolutionary research. A typical problem is to reconstruct such trees from data like DNA alignments (whose columns are often referred to as characters), and a simple optimization criterion for such reconstructions is maximum parsimony. It is generally assumed that this criterion works well for data in which state changes are rare. In the present manuscript, we prove that each phylogenetic tree $T$ with $n\geq 20 k$ leaves is uniquely defined by the set $A_k(T)$, which consists of all characters with parsimony score $k$ on $T$. This can be considered as a promising first step towards showing that maximum parsimony as a tree reconstruction criterion is justified when the number of changes in the data is relatively small.

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arXiv2022

Effects of discordance between species and gene trees on phylogenetic diversity conservation

Phylogenetic diversity indices such as the Fair Proportion (FP) index are frequently discussed as prioritization criteria in biodiversity conservation. They rank species according to their contribution to overall diversity by taking into account the unique and shared evolutionary history of each species as indicated by its placement in an underlying phylogenetic tree. Traditionally, phylogenetic trees were inferred from single genes and the resulting gene trees were assumed to be a valid estimate for the species tree, i.e., the "true" evolutionary history of the species under consideration. However, nowadays it is common to sequence whole genomes of hundreds or thousands of genes, and it is often the case that conflicting genealogical histories exist in different genes throughout the genome, resulting in discordance between individual gene trees and the species tree. Here, we analyze the effects of gene and species tree discordance on prioritization decisions based on the FP index. In particular, we consider the ranking order of taxa induced by (i) the FP index on a species tree, and (ii) the expected FP index across all gene tree histories associated with the species tree. On one hand, we show that for particular tree shapes, the two rankings always coincide. On the other hand, we show that for all leaf numbers greater than or equal to five, there exist species trees for which the two rankings differ. Finally, we illustrate the variability in the rankings obtained from the FP index across different gene tree and species tree estimates for an empirical multilocus mammal data set.

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arXiv2022

How far is my network from being edge-based? Proximity measures for edge-basedness of unrooted phylogenetic networks

Phylogenetic networks which are, as opposed to trees, suitable to describe processes like hybridization and horizontal gene transfer, play a substantial role in evolutionary research. However, while non-treelike events need to be taken into account, they are relatively rare, which implies that biologically relevant networks are often assumed to be similar to trees in the sense that they can be obtained by taking a tree and adding some additional edges. This observation led to the concept of so-called tree-based networks, which recently gained substantial interest in the literature. Unfortunately, though, identifying such networks in the unrooted case is an NP-complete problem. Therefore, classes of networks for which tree-basedness can be guaranteed are of the utmost interest. The most prominent such class is formed by so-called edge-based networks, which have a close relationship to generalized series-parallel graphs known from graph theory. They can be identified in linear time and are in some regards biologically more plausible than general tree-based networks. While concerning the latter proximity measures for general networks have already been introduced, such measures are not yet available for edge-basedness. This means that for an arbitrary unrooted network, the "distance" to the nearest edge-based network could so far not be determined. The present manuscript fills this gap by introducing two classes of proximity measures for edge-basedness, one based on the given network itself and one based on its so-called leaf shrink graph (LS graph). Both classes contain four different proximity measures, whose similarities and differences we study subsequently.

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arXiv2021

Measuring tree balance using symmetry nodes -- a new balance index and its extremal properties

Effects like selection in evolution as well as fertility inheritance in the development of populations can lead to a higher degree of asymmetry in evolutionary trees than expected under a null hypothesis. To identify and quantify such influences, various balance indices were proposed in the phylogenetic literature and have been in use for decades. However, so far no balance index was based on the number of \emph{symmetry nodes}, even though symmetry nodes play an important role in other areas of mathematical phylogenetics and despite the fact that symmetry nodes are a quite natural way to measure balance or symmetry of a given tree. The aim of this manuscript is thus twofold: First, we will introduce the \emph{symmetry nodes index} as an index for measuring balance of phylogenetic trees and analyze its extremal properties. We also show that this index can be calculated in linear time. This new index turns out to be a generalization of a simple and well-known balance index, namely the \emph{cherry index}, as well as a specialization of another, less established, balance index, namely \emph{Rogers' $J$ index}. Thus, it is the second objective of the present manuscript to compare the new symmetry nodes index to these two indices and to underline its advantages. In order to do so, we will derive some extremal properties of the cherry index and Rogers' $J$ index along the way and thus complement existing studies on these indices. Moreover, we used the programming language \textsf{R} to implement all three indices in the software package \textsf{symmeTree}, which has been made publicly available.

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arXiv2021

Phylogenetic Diversity Rankings in the Face of Extinctions: the Robustness of the Fair Proportion Index

Planning for the protection of species often involves difficult choices about which species to prioritize, given constrained resources. One way of prioritizing species is to consider their "evolutionary distinctiveness", i.e. their relative evolutionary isolation on a phylogenetic tree. Several evolutionary isolation metrics or phylogenetic diversity indices have been introduced in the literature, among them the so-called Fair Proportion index (also known as the "evolutionary distinctiveness" score). This index apportions the total diversity of a tree among all leaves, thereby providing a simple prioritization criterion for conservation. Here, we focus on the prioritization order obtained from the Fair Proportion index and analyze the effects of species extinction on this ranking. More precisely, we analyze the extent to which the ranking order may change when some species go extinct and the Fair Proportion index is re-computed for the remaining taxa. We show that for each phylogenetic tree, there are edge lengths such that the extinction of one leaf per cherry completely reverses the ranking. Moreover, we show that even if only the lowest ranked species goes extinct, the ranking order may drastically change. We end by analyzing the effects of these two extinction scenarios (extinction of the lowest ranked species and extinction of one leaf per cherry) for a collection of empirical and simulated trees. In both cases, we can observe significant changes in the prioritization orders, highlighting the empirical relevance of our theoretical findings.

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arXiv2021

Combinatorial perspectives on Dollo-$k$ characters in phylogenetics

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.

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arXiv2021

The Geometry of the space of Discrete Coalescent Trees

Computational inference of dated evolutionary histories relies upon various hypotheses about RNA, DNA, and protein sequence mutation rates. Using mutation rates to infer these dated histories is referred to as molecular clock assumption. Coalescent theory is a popular class of evolutionary models that implements the molecular clock hypothesis to facilitate computational inference of dated phylogenies. Cancer and virus evolution are two areas where these methods are particularly important. Methodologically, phylogenetic inference methods require a tree space over which the inference is performed, and geometry of this space plays an important role in statistical and computational aspects of tree inference algorithms. It has recently been shown that molecular clock, and hence coalescent, trees possess a unique geometry, different from that of classical phylogenetic tree spaces which do not model mutation rates. Here we introduce and study a space of discrete coalescent trees, that is, we assume that time is discrete, which is inevitable in many computational formalisations. We establish several geometrical properties of the space and show how these properties impact various algorithms used in phylogenetic analyses. Our tree space is a discretisation of a known time tree space, called t-space, and hence our results can be used to approximate solutions to various open problems in t-space. Our tree space is also a generalisation of another known trees space, called the ranked nearest neighbour interchange space, hence our advances in this paper imply new and generalise existing results about ranked trees.

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arXiv2020

Extremal values of the Sackin tree balance index

Tree balance plays an important role in different research areas like theoretical computer science and mathematical phylogenetics. For example, it has long been known that under the Yule model, a pure birth process, imbalanced trees are more likely than balanced ones. Also, concerning ordered search trees, more balanced ones allow for more efficient data structuring than imbalanced ones. Therefore, different methods to measure the balance of trees were introduced. The Sackin index is one of the most frequently used measures for this purpose. In many contexts, statements about the minimal and maximal values of this index have been discussed, but formal proofs have only been provided for some of them, and only in the context of ordered binary (search) trees, not for general rooted trees. Moreover, while the number of trees with maximal Sackin index as well as the number of trees with minimal Sackin index when the number of leaves is a power of 2 are relatively easy to understand, the number of trees with minimal Sackin index for all other numbers of leaves has been completely unknown. In this manuscript, we extend the findings on trees with minimal and maximal Sackin indices from the literature on ordered trees and subsequently use our results to provide formulas to explicitly calculate the numbers of such trees. We also extend previous studies by analyzing the case when the underlying trees need not be binary. Finally, we use our results to contribute both to the phylogenetic as well as the computer scientific literature by using the new findings on Sackin minimal and maximal trees in order to derive formulas to calculate the number of both minimal and maximal phylogenetic trees as well as minimal and maximal ordered trees both in the binary and non-binary settings. All our results have been implemented in the Mathematica package SackinMinimizer, which has been made publicly available.

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arXiv2020

Unrooted non-binary tree-based phylogenetic networks

Phylogenetic networks are a generalization of phylogenetic trees allowing for the representation of non-treelike evolutionary events such as hybridization. Typically, such networks have been analyzed based on their `level', i.e. based on the complexity of their 2-edge-connected components. However, recently the question of how `treelike' a phylogenetic network is has become the center of attention in various studies. This led to the introduction of \emph{tree-based networks}, i.e. networks that can be constructed from a phylogenetic tree, called the \emph{base tree}, by adding additional edges. While the concept of tree-basedness was originally introduced for rooted phylogenetic networks, it has recently also been considered for unrooted networks. In the present study, we compare and contrast findings obtained for unrooted \emph{binary} tree-based networks to unrooted \emph{non-binary} networks. In particular, while it is known that up to level 4 all unrooted binary networks are tree-based, we show that in the case of non-binary networks, this result only holds up to level 3.

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arXiv2020

Combinatorial views on persistent characters in phylogenetics

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 persistent characters in terms of the first phase of the famous Fitch algorithm. Afterwards we focus on the number of persistent characters for a given phylogenetic tree. We show that this number solely depends on the balance of the tree. To be precise, we develop a formula for counting the number of persistent characters for a given phylogenetic tree based on an index of tree balance, namely the Sackin index. Lastly, we consider the question of how many (carefully chosen) binary characters together with their persistence status are needed to uniquely determine a phylogenetic tree and provide an upper bound for the number of characters needed.

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arXiv2020

On the minimum value of the Colless index and the bifurcating trees that achieve it

Measures of tree balance play an important role in the analysis of phylogenetic trees. One of the oldest and most popular indices in this regard is the Colless index for rooted bifurcating trees, introduced by Colless (1982). While many of its statistical properties under different probabilistic models for phylogenetic trees have already been established, little is known about its minimum value and the trees that achieve it. In this manuscript, we fill this gap in the literature. To begin with, we derive both recursive and closed expressions for the minimum Colless index of a tree with $n$ leaves. Surprisingly, these expressions show a connection between the minimum Colless index and the so-called Blancmange curve, a fractal curve. We then fully characterize the tree shapes that achieve this minimum value and we introduce both an algorithm to generate them and a recurrence to count them. After focusing on two extremal classes of trees with minimum Colless index (the maximally balanced trees and the greedy from the bottom trees), we conclude by showing that all trees with minimum Colless index also have minimum Sackin index, another popular balance index.

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arXiv2020

How tree-based is my network? Proximity measures for unrooted phylogenetic networks

Tree-based networks are a class of phylogenetic networks that attempt to formally capture what is meant by "tree-like" evolution. A given non-tree-based phylogenetic network, however, might appear to be very close to being tree-based, or very far. In this paper, we formalise the notion of proximity to tree-based for unrooted phylogenetic networks, with a range of proximity measures. These measures also provide characterisations of tree-based networks. One measure in particular, related to the nearest neighbour interchange operation, allows us to define the notion of "tree-based rank". This provides a subclassification within the tree-based networks themselves, identifying those networks that are "very" tree-based. Finally, we prove results relating tree-based networks in the settings of rooted and unrooted phylogenetic networks, showing effectively that an unrooted network is tree-based if and only if it can be made a rooted tree-based network by rooting it and orienting the edges appropriately. This leads to a clarification of the contrasting decision problems for tree-based networks, which are polynomial in the rooted case but NP complete in the unrooted.

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arXiv2020

Non-binary universal tree-based networks

A tree-based network $N$ on $X$ is called universal if every phylogenetic tree on $X$ is a base tree for $N$. Recently, binary universal tree-based networks have attracted great attention in the literature and their existence has been analyzed in various studies. In this note, we extend the analysis to non-binary networks and show that there exist both a rooted and an unrooted non-binary universal tree-based network with $n$ leaves for all positive integers $n$.

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arXiv2019

Classes of treebased networks

Recently, so-called treebased phylogenetic networks have gained considerable interest in the literature, where a treebased network is a network that can be constructed from a phylogenetic tree, called the base tree, by adding additional edges. The main aim of this manuscript is to provide some sufficient criteria for treebasedness by reducing phylogenetic networks to related graph structures. While it is generally known that deciding whether a network is treebased is NP-complete, one of these criteria, namely edgebasedness, can be verified in linear time. Surprisingly, the class of edgebased networks is closely related to a well-known family of graphs, namely the class of generalized series parallel graphs, and we will explore this relationship in full detail. Additionally, we introduce further classes of treebased networks and analyze their relationships.

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arXiv2019

The space of tree-based phylogenetic networks

Phylogenetic networks are generalizations of phylogenetic trees that allow the representation of reticulation events such as horizontal gene transfer or hybridization, and can also represent uncertainty in inference. A subclass of these, tree-based phylogenetic networks, have been introduced to capture the extent to which reticulate evolution nevertheless broadly follows tree-like patterns. Several important operations that change a general phylogenetic network have been developed in recent years, and are important for allowing algorithms to move around spaces of networks; a vital ingredient in finding an optimal network given some biological data. A key such operation is the Nearest Neighbor Interchange, or NNI. While it is already known that the space of unrooted phylogenetic networks is connected under NNI, it has been unclear whether this also holds for the subspace of tree-based networks. In this paper we show that the space of unrooted tree-based phylogenetic networks is indeed connected under the NNI operation. We do so by explicitly showing how to get from one such network to another one without losing tree-basedness along the way. Moreover, we introduce some new concepts, for instance ``shoat networks'', and derive some interesting aspects concerning tree-basedness. Last, we use our results to derive an upper bound on the size of the space of tree-based networks.

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arXiv2019

Extremal properties of the Colless balance index for rooted binary trees

Measures of tree balance play an important role in various research areas, for example in phylogenetics. There they are for instance used to test whether an observed phylogenetic tree differs significantly from a tree generated by the Yule model of speciation. One of the most popular indices in this regard is the Colless index, which measures the degree of balance for rooted binary trees. While many statistical properties of the Colless index (e.g. asymptotic results for its mean and variance under different models of speciation) have already been discussed in different contexts, we focus on its extremal properties. While it is relatively straightforward to characterize trees with maximal Colless index, the analysis of the minimal value of the Colless index and the characterization of trees that achieve it, are much more involved. In this note, we therefore focus on the minimal value of the Colless index for any given number of leaves. We derive both a recursive formula for this minimal value, as well as an explicit expression, which shows a surprising connection between the Colless index and the so-called Blancmange curve, a fractal curve that is also known as the Takagi curve. Moreover, we characterize two classes of trees that have minimal Colless index, consisting of the set of so-called \emph{maximally balanced trees} and a class of trees that we call \emph{greedy from the bottom trees}. Furthermore, we derive an upper bound for the number of trees with minimal Colless index by relating these trees with trees with minimal Sackin index (another well-studied index of tree balance).

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arXiv2019

On the uniqueness of the maximum parsimony tree for data with up to two substitutions: an extension of the classic Buneman theorem in phylogenetics

One of the main aims of phylogenetics is the reconstruction of the correct evolutionary tree when data concerning the underlying species set are given. These data typically come in the form of DNA, RNA or protein alignments, which consist of various characters (also often referred to as sites). Often, however, tree reconstruction methods based on criteria like maximum parsimony may fail to provide a unique tree for a given dataset, or, even worse, reconstruct the `wrong' tree (i.e. a tree that differs from the one that generated the data). On the other hand it has long been known that if the alignment consists of all the characters that correspond to edges of a particular tree, i.e. they all require exactly $k=1$ substitution to be realized on that tree, then this tree will be recovered by maximum parsimony methods. This is based on Buneman's theorem in mathematical phylogenetics. It is the goal of the present manuscript to extend this classic result as follows: We prove that if an alignment consists of all characters that require exactly $k=2$ substitutions on a particular tree, this tree will always be the unique maximum parsimony tree (and we also show that this can be generalized to characters which require at most $k=2$ substitutions). In particular, this also proves a conjecture based on a recently published observation by Goloboff et al. affirmatively for the special case of $k=2$.

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arXiv2018

On the statistical inconsistency of Maximum Parsimony for $k$-tuple-site data

One of the main aims of phylogenetics is to reconstruct the \enquote{Tree of Life}. In this respect, different methods and criteria are used to analyze DNA sequences of different species and to compare them in order to derive the evolutionary relationships of these species. Maximum Parsimony is one such criterion for tree reconstruction and, it is the one which we will use in this paper. However, it is well-known that tree reconstruction methods can lead to wrong relationship estimates. One typical problem of Maximum Parsimony is long branch attraction, which can lead to statistical inconsistency. In this work, we will consider a blockwise approach to alignment analysis, namely so-called $k$-tuple analyses. For four taxa it has already been shown that $k$-tuple-based analyses are statistically inconsistent if and only if the standard character-based (site-based) analyses are statistically inconsistent. So, in the four-taxon case, going from individual sites to $k$-tuples does not lead to any improvement. However, real biological analyses often consider more than only four taxa. Therefore, we analyze the case of five taxa for $2$- and $3$-tuple-site data and consider alphabets with two and four elements. We show that the equivalence of single-site data and $k$-tuple-site data then no longer holds. Even so, we can show that Maximum Parsimony is statistically inconsistent for $k$-tuple site data and five taxa.

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