arXiv subjects

Thomas Wiehe

Publications and source records attributed to Thomas Wiehe.

8 recordsLinked to original sources

arXiv2020

Counting, grafting and evolving binary trees

Binary trees are fundamental objects in models of evolutionary biology and population genetics. Here, we discuss some of their combinatorial and structural properties as they depend on the tree class considered. Furthermore, the process by which trees are generated determines the probability distribution in tree space. Yule trees, for instance, are generated by a pure birth process. When considered as unordered, they have neither a closed-form enumeration nor a simple probability distribution. But their ordered siblings have both. They present the object of choice when studying tree structure in the framework of evolving genealogies.

q-bio.PE↗

arXiv2019

The Evolving Moran Genealogy

We study the evolution of the population genealogy in the classic neutral Moran Model of finite size and in discrete time. The stochastic transformations that shape a Moran population can be realized directly on its genealogy and give rise to a process with a state space consisting of the finite set of Yule trees of a certain size. We derive a number of properties of this process, and show that they are in agreement with existing results on the infinite-population limit of the Moran Model. Most importantly, this process admits time reversal, which gives rise to another tree-valued Markov Chain and allows for a thorough investigation of the Most Recent Common Ancestor process.

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arXiv2017

Decomposing the site frequency spectrum: the impact of tree topology on neutrality tests

We investigate the dependence of the site frequency spectrum (SFS) on the topological structure of genealogical trees. We show that basic population genetic statistics - for instance estimators of $θ$ or neutrality tests such as Tajima's $D$ - can be decomposed into components of waiting times between coalescent events and of tree topology. Our results clarify the relative impact of the two components on these statistics. We provide a rigorous interpretation of positive or negative values of an important class of neutrality tests in terms of the underlying tree shape. In particular, we show that values of Tajima's $D$ and Fay and Wu's $H$ depend in a direct way on a peculiar measure of tree balance which is mostly determined by the root balance of the tree. We present a new test for selection in the same class as Fay and Wu's $H$ and discuss its interpretation and power. Finally, we determine the trees corresponding to extreme expected values of these neutrality tests and present formulae for these extreme values as a function of sample size and number of segregating sites.

q-bio.PE↗

arXiv2017

The expected neutral frequency spectrum of linked sites

We present an exact, closed expression for the expected neutral Site Frequency Spectrum for two neutral sites, 2-SFS, without recombination. This spectrum is the immediate extension of the well known single site $θ/f$ neutral SFS. Similar formulae are also provided for the case of the expected SFS of sites that are linked to a focal neutral mutation of known frequency. Formulae for finite samples are obtained by coalescent methods and remarkably simple expressions are derived for the SFS of a large population, which are also solutions of the multi-allelic Kolmogorov equations. Besides the general interest of these new spectra, they relate to interesting biological cases such as structural variants and introgressions. As an example, we present the expected neutral frequency spectrum of regions with a chromosomal inversion.

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arXiv2014

On the sub-permutations of pattern avoiding permutations

There is a deep connection between permutations and trees. Certain sub-structures of permutations, called sub-permutations, bijectively map to sub-trees of binary increasing trees. This opens a powerful tool set to study enumerative and probabilistic properties of sub-permutations and to investigate the relationships between 'local' and 'global' features using the concept of pattern avoidance. First, given a pattern μ, we study how the avoidance of μ in a permutation π affects the presence of other patterns in the sub-permutations of π. More precisely, considering patterns of length 3, we solve instances of the following problem: given a class of permutations K and a pattern μ, we ask for the number of permutations $π\in Av_n(μ)$ whose sub-permutations in K satisfy certain additional constraints on their size. Second, we study the probability for a generic pattern to be contained in a random permutation π of size n without being present in the sub-permutations of π generated by the entry $1 \leq k \leq n$. These theoretical results can be useful to define efficient randomized pattern-search procedures based on classical algorithms of pattern-recognition, while the general problem of pattern-search is NP-complete.

math.CO↗

arXiv2013

Yule-generated trees constrained by node imbalance

The Yule process generates a class of binary trees which is fundamental to population genetic models and other applications in evolutionary biology. In this paper, we introduce a family of sub-classes of ranked trees, called Omega-trees, which are characterized by imbalance of internal nodes. The degree of imbalance is defined by an integer 0 <= w. For caterpillars, the extreme case of unbalanced trees, w = 0. Under models of neutral evolution, for instance the Yule model, trees with small w are unlikely to occur by chance. Indeed, imbalance can be a signature of permanent selection pressure, such as observable in the genealogies of certain pathogens. From a mathematical point of view it is interesting to observe that the space of Omega-trees maintains several statistical invariants although it is drastically reduced in size compared to the space of unconstrained Yule trees. Using generating functions, we study here some basic combinatorial properties of Omega-trees. We focus on the distribution of the number of subtrees with two leaves. We show that expectation and variance of this distribution match those for unconstrained trees already for very small values of w.

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arXiv2013

Demography-adjusted tests of neutrality based on genome-wide SNP data

Tests of the neutral evolution hypothesis are usually built on the standard null model which assumes that mutations are neutral and population size remains constant over time. However, it is unclear how such tests are affected if the last assumption is dropped. Here, we extend the unifying framework for tests based on the site frequency spectrum, introduced by Achaz and Ferretti, to populations of varying size. A key ingredient is to specify the first two moments of the frequency spectrum. We show that these moments can be determined analytically if a population has experienced two instantaneous size changes in the past. We apply our method to data from ten human populations gathered in the 1000 genomes project, estimate their demographies and define demography-adjusted versions of Tajima's $D$, Fay & Wu's $H$, and Zeng's $E$. The adjusted test statistics facilitate the direct comparison between populations and they show that most of the differences among populations seen in the original tests can be explained by demography. We carried out whole genome screens for deviation from neutrality and identified candidate regions of recent positive selection. We provide track files with values of the adjusted and original tests for upload to the UCSC genome browser.

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arXiv2012

Exact enumeration of cherries and pitchforks in ranked trees under the coalescent model

We consider exact enumerations and probabilistic properties of ranked trees when generated under the random coalescent process. Using a new approach, based on generating functions, we derive several statistics such as the exact probability of finding k cherries in a ranked tree of fixed size n. We then extend our method to consider also the number of pitchforks. We find a recursive formula to calculate the joint and conditional probabilities of cherries and pitch- forks when the size of the tree is fixed.

math.CO↗