We investigate the properties of a Wright-Fisher diffusion process started from frequency x at time 0 and conditioned to be at frequency y at time T. Such a process is called a bridge. Bridges arise naturally in the analysis of selection acting on standing variation and in the inference of selection from allele frequency time series. We establish a number of results about the distribution of neutral Wright-Fisher bridges and develop a novel rejection sampling scheme for bridges under selection that we use to study their behavior.
The Moran discrete process and the Wright-Fisher modelare the most popular models in population genetics. It is common tounderstand the dynamics of these models to use an approximating diffusionprocess, called Wright-Fisher diffusion. Here, we give a quantitativelarge population limit of the error committed by using the approximationdiffusion in the presence of weak selection and weak immigrationin one dimension. The approach is robust enough to consider the casewhere selection and immigration are Markovian processes, with limitsjump or diffusion processes.
We consider the classical Wright-Fisher model with mutation and selection. Mutations occur independently in each locus, and selection is performed according to the sharp peak landscape. In the asymptotic regime studied in [3], a quasispecies is formed. We find explicitly the distribution of this quasispecies, which turns out to be the same distribution as for the Moran model.
Known results on the moments of the distribution generated by the two-locus Wright-Fisher diffusion model and a duality between the diffusion process and the ancestral process with recombination are briefly summarized. A numerical methods for computing moments by a Markov chain Monte Carlo and a method to compute closed-form expressions of the moments are presented. By using the duality argument properties of the ancestral recombination graph are studied in terms of the moments.
We study stochastic evolutionary game dynamics in a population of finite size. Individuals in the population are divided into two dynamically evolving groups. The structure of the population is formally described by a Wright-Fisher type Markov chain with a frequency dependent fitness. In a strong selection regime that favors one of the two groups, we obtain qualitatively matching lower and upper bounds for the fixation probability of the advantageous population. In the infinite population limit we obtain an exact result showing that a single advantageous mutant can invade an infinite populatio…
We investigate the behaviour of the genealogy of a Wright-Fisher population model under the influence of a strong seed-bank effect. More precisely, we consider a simple seed-bank age distribution with two atoms, leading to either classical or long genealogical jumps (the latter modeling the effect of seed-dormancy). We assume that the length of these long jumps scales like a power $N^β$ of the original population size $N$, thus giving rise to a `strong' seed-bank effect. For a certain range of $β$, we prove that the ancestral process of a sample of $n$ individuals converges under a non-classic…
We consider a population evolving under mutation and selection. The genotype of an individual is a word of length $\ell$ over a finite alphabet. Mutations occur during reproduction, independently on each locus; the fitness depends on the Hamming class (the distance to a reference sequence $w^*$). Evolution is driven according to the classical Wright--Fisher process. We focus on the proportion of the different classes under the invariant measure of the process. We consider the regime where the length of the genotypes $\ell$ goes to infinity, and both the population size and the inverse of the m…
We introduce a multi-allele Wright-Fisher model with non-recurrent, reversible mutation and directional selection. In this setting, the allele frequencies at a single locus track the path of a hybrid jump-diffusion process with state space given by the vertex and edge set of a graph. Vertices represent monomorphic population states and edge-positions mark the biallelic proportions of ancestral and derived alleles during polymorphic segments. We derive the stationary distribution in mutation-selection-drift equilibrium and obtain the expected allele frequency spectrum under large population siz…
Using graphical methods based on a `lookdown' and pruned version of the {\em ancestral selection graph}, we obtain a representation of the type distribution of the ancestor in a two-type Wright-Fisher population with mutation and selection, conditional on the overall type frequency in the old population. This extends results from Lenz, Kluth, Baake, and Wakolbinger (Theor. Pop. Biol., 103 (2015), 27-37) to the case of heavy-tailed offspring, directed by a reproduction measure $Λ$. The representation is in terms of the equilibrium tail probabilities of the line-counting process $L$ of the graph…
Two giants of evolutionary theory, Sewall Wright and R. A. Fisher, fought bitterly for over thirty years. The Wright-Fisher controversy forms a cornerstone of the history and philosophy of biology. I argue that the standard interpretations of the Wright-Fisher controversy do not accurately represent the ideas and arguments of these two key historical figures. The usual account contrasts the major slogans attached to each name: Wright's adaptive landscape and shifting balance theory of evolution versus Fisher's fundamental theorem of natural selection. These alternative theories are in fact inc…
I describe an analytical approximation for calculating the short-term probability of loss of a chromosome under the neutral Wright-Fisher model with recombination. I also present an upper and lower bound for this probability. Exact analytical calculation of this quantity is difficult and computationally expensive because the number of different ways in which a chromosome can be lost, grows very large in the presence of recombination. Simulations indicate that the probabilities obtained using my approximate formula are always comparable to the true expectations provided that the number of gener…
In this work we derive new analytic expressions for fixation time in Wright-Fisher model with selection. The three standard cases for fixation are considered: fixation to zero, to one or both. Second order differential equations for fixation time are obtained by a simplified approach using only the law of total probability and Taylor expansions. The obtained solutions are given by a combination of exponential integral functions with elementary functions. We then state approximate formulas involving only elementary functions valid for small selection effects. The quality of our results are expl…
The transition distribution of a sample taken from a Wright-Fisher diffusion with general small mutation rates is found using a coalescent approach. The approximation is equivalent to having at most one mutation in the coalescent tree of the sample up to the most recent common ancestor with additional mutations occurring on the lineage from the most recent common ancestor to the time origin if complete coalescence occurs before the origin. The sampling distribution leads to an approximation for the transition density in the diffusion with small mutation rates. This new solution has interest be…
The Wright-Fisher process with selection is an important tool in population genetics theory. Traditional analysis of this process relies on the diffusion approximation. The diffusion approximation is usually studied in a partial differential equations framework. In this paper, I introduce a path integral formalism to study the Wright-Fisher process with selection and use that formalism to obtain a simple perturbation series to approximate the transition density. The perturbation series can be understood in terms of Feynman diagrams, which have a simple probabilistic interpretation in terms of …
In the context of population genetics, active information can be extended to measure the change of information of a given event (e.g., fixation of an allele) from a neutral model in which only genetic drift is taken into account to a non-neutral model that includes other sources of frequency variation (e.g., selection and mutation). In this paper we illustrate active information in population genetics through the Wright-Fisher model.
The stationary distribution of a sample taken from a Wright-Fisher diffusion with general small mutation rates is found using a coalescent approach. The approximation is equivalent to having at most one mutation in the coalescent tree to the first order in the rates. The sample probabilities characterize an approximation for the stationary distribution from the Wright-Fisher diffusion. The approach is different from Burden and Tang (2016,2017) who use a probability flux argument to obtain the same results from a forward diffusion generator equation. The solution has interest because the soluti…
We show that the Eigen model and the asexual Wright-Fisher model can be obtained as different limit cases of a unique stochastic model. This derivation makes clear which are the exact differences between these two models. The two key concepts introduced with the Eigen model, the error threshold and the quasispecies, are not affected by these differences, so that they are naturally present also in population genetics models. According to this fact, in the last part of the paper, we use the classical diploid mutation-selection equation and the single peak fitness approximation to obtain the erro…
Several groups have recently modeled evolutionary transitions from an ancestral allele to a beneficial allele separated by one or more intervening mutants. The beneficial allele can become fixed if a succession of intermediate mutants are fixed or alternatively if successive mutants arise while the previous intermediate mutant is still segregating. This latter process has been termed stochastic tunneling. Previous work has focused on the Moran model of population genetics. I use elementary methods of analyzing stochastic processes to derive the probability of tunneling in the limit of large po…
The Wright--Fisher diffusion is important in population genetics in modelling the evolution of allele frequencies over time subject to the influence of biological phenomena such as selection, mutation, and genetic drift. Simulating paths of the process is challenging due to the form of the transition density. We present EWF, a robust and efficient sampler which returns exact draws for the diffusion and diffusion bridge processes, accounting for general models of selection including those with frequency-dependence. Given a configuration of selection, mutation, and endpoints, EWF returns draws a…
Duality plays an important role in population genetics. It can relate results from forwards-in-time models of allele frequency evolution with those of backwards-in-time genealogical models; a well known example is the duality between the Wright-Fisher diffusion for genetic drift and its genealogical counterpart, the coalescent. There have been a number of articles extending this relationship to include other evolutionary processes such as mutation and selection, but little has been explored for models also incorporating crossover recombination. Here, we derive from first principles a new genea…
We pursue the task of developing a finite population counterpart to Eigen's model. We consider the classical Wright-Fisher model describing the evolution of a population of size $m$ of chromosomes of length $\ell$ over an alphabet of cardinality $κ$. The mutation probability per locus is $q$. The replication rate is $σ>1$ for the master sequence and $1$ for the other sequences. We study the equilibrium distribution of the process in the regime where $\ell\to+\infty$, $m\to+\infty$, $q\to0$, $\ell q\to a\in\,]0,+\infty[$, $\frac{m}{\ell}\toα\in [0,+\infty]$. We obtain an equation $αψ(a)=\lnκ$ i…
A two-types, discrete-time population model with finite, constant size is constructed, allowing for a general form of frequency-dependent selection and skewed offspring distribution. Selection is defined based on the idea that individuals first choose a (random) number of $\textit{potential}$ parents from the previous generation and then, from the selected pool, they inherit the type of the fittest parent. The probability distribution function of the number of potential parents per individual thus parametrises entirely the selection mechanism. Using sampling- and moment-duality, weak convergen…
Characterizing time-evolution of allele frequencies in a population is a fundamental problem in population genetics. In the Wright-Fisher diffusion, such dynamics is captured by the transition density function, which satisfies well-known partial differential equations. For a multi-allelic model with general diploid selection, various theoretical results exist on representations of the transition density, but finding an explicit formula has remained a difficult problem. In this paper, a technique recently developed for a diallelic model is extended to find an explicit transition density for an …
Discrete ancestral problems arising in population genetics are investigated. In the neutral case, the duality concept has proved of particular interest in the understanding of backward in time ancestral process from the forward in time branching population dynamics. We show that duality formulae still are of great use when considering discrete non-neutral Wright-Fisher models. This concerns a large class of non-neutral models with completely monotone (CM) bias probabilities. We show that most classical bias probabilities used in the genetics literature fall within this CM class or are amenable…
The stationary distribution of the diffusion limit of the 2-island, 2-allele Wright-Fisher with small but otherwise arbitrary mutation and migration rates is investigated. Following a method developed by Burden and Tang (2016, 2017) for approximating the forward Kolmogorov equation, the stationary distribution is obtained to leading order as a set of line densities on the edges of the sample space, corresponding to states for which one island is bi-allelic and the other island is non-segregating, and a set of point masses at the corners of the sample space, corresponding to states for which bo…
A number of discrete time, finite population size models in genetics describing the dynamics of allele frequencies are known to converge (subject to suitable scaling) to a diffusion process in the infinite population limit, termed the Wright-Fisher diffusion. In this article we show that the diffusion is ergodic uniformly in the selection and mutation parameters, and that the measures induced by the solution to the stochastic differential equation are uniformly locally asymptotically normal. Subsequently these two results are used to analyse the statistical properties of the Maximum Likelihood…
Seed banks are a common characteristics to many plant species, which allow storage of genetic diversity in the soil as dormant seeds for various periods of time. We investigate an above-ground population following a Fisher-Wright model with selection coupled with a deterministic seed bank assuming the length of the seed bank is kept constant and the number of seeds is large. To assess the combined impact of seed banks and selection on genetic diversity, we derive a general diffusion model. The applied techniques outline a path of approximating a stochastic delay differential equation by an app…
With novel developments in sequencing technologies, time-sampled data are becoming more available and accessible. Naturally, there have been efforts in parallel to infer population genetic parameters from these datasets. Here, we compare and analyze four recent approaches based on the Wright-Fisher model for inferring selection coefficients (s) given effective population size (Ne), with simulated temporal datasets. Furthermore, we demonstrate the advantage of a recently proposed ABC-based method that is able to correctly infer genome-wide average Ne from time-serial data, which is then set as …
The Wright-Fisher model is the most popular population model for describing the behaviour of evolutionary systems with a finite population size. Approximations to the model have commonly been used for the analysis of time-resolved genome sequence data, but the model itself has rarely been tested against genomic data. Here, we evaluate the extent to which it can be inferred as the correct model given experimental data. Given genome-wide data from an evolutionary experiment, we validate the Wright-Fisher model as the better model for variance in a finite population in contrast to a Gaussian mode…
In both population genetics and forensic genetics it is important to know how haplotypes are distributed in a population. Simulation of population dynamics helps facilitating research on the distribution of haplotypes. In forensic genetics, the haplotypes can for example consist of lineage markers such as short tandem repeat loci on the Y chromosome (Y-STR). A dominating model for describing population dynamics is the simple, yet powerful, Fisher-Wright model. We describe an efficient algorithm for exact forward simulation of exact Fisher-Wright populations (and not approximative such as the c…
We present a mechanistic formalism for the study of evolutionary dynamics models based on the diffusion approximation described by the Kimura Equation. In this formalism, the central component is the fitness potential, from which we obtain an expression for the amount of work necessary for a given type to reach fixation. In particular, within this interpretation, we develop a graphical analysis --- similar to the one used in classical mechanics --- providing the basic tool for a simple heuristic that describes both the short and long term dynamics. As a by-product, we provide a new definition …
We first recall some basic facts from the theory of discrete-time Markov chains arising from two types neutral and non-neutral evolution models of population genetics with constant size. We then define and analyse a version of such models whose fluctuating total population size is conserved on average only. In our model, the population of interest is seen as being embedded in a frame process which is a critical Galton-Watson process. In this context, we address problems such as extinction, fixation, size of the population at fixation and survival probability to a bottleneck effect of the envir…
The two-parameter Poisson--Dirichlet diffusion, introduced in 2009 by Petrov, extends the infinitely-many-neutral-alleles diffusion model, related to Kingman's one-parameter Poisson--Dirichlet distribution and to certain Fleming--Viot processes. The additional parameter has been shown to regulate the clustering structure of the population, but is yet to be fully understood in the way it governs the reproductive process. Here we shed some light on these dynamics by formulating a $K$-allele Wright--Fisher model for a population of size $N$, involving a uniform mutation pattern and a specific sta…
Widespread sharing of long, identical-by-descent (IBD) genetic segments is a hallmark of populations that have experienced recent genetic drift. Detection of these IBD segments has recently become feasible, enabling a wide range of applications from phasing and imputation to demographic inference. Here, we study the distribution of IBD sharing in the Wright-Fisher model. Specifically, using coalescent theory, we calculate the variance of the total sharing between random pairs of individuals. We then investigate the cohort-averaged sharing: the average total sharing between one individual and t…
We introduce a new Wright-Fisher type model for seed banks incorporating "simultaneous switching", which is motivated by recent work on microbial dormancy. We show that the simultaneous switching mechanism leads to a new jump-diffusion limit for the scaled frequency processes, extending the classical Wright-Fisher and seed bank diffusion limits. We further establish a new dual coalescent structure with multiple activation and deactivation events of lineages. While this seems reminiscent of multiple merger events in general exchangeable coalescents, it actually leads to an entirely new class of…
Diffusion theory is a central tool of modern population genetics, yielding simple expressions for fixation probabilities and other quantities that are not easily derived from the underlying Wright-Fisher model. Unfortunately, the textbook derivation of diffusion equations as scaling limits requires evolutionary parameters (selection coefficients, mutation rates) to scale like the inverse population size -- a severe restriction that does not always reflect biological reality. Here we note that the Wright-Fisher model can be approximated by diffusion equations under more general conditions, incl…
We study a class of processes that are akin to the Wright-Fisher model, with transition probabilities weighted in terms of the frequency-dependent fitness of the population types. By considering an approximate weak formulation of the discrete problem, we are able to derive a corresponding continuous weak formulation for the probability density. Therefore, we obtain a family of partial differential equations (PDE) for the evolution of the probability density, and which will be an approximation of the discrete process in the joint large population, small time-steps and weak selection limit. If t…
The entropy rates of the Wright-Fisher process, the Moran process, and generalizations are computed and used to compare these processes and their dependence on standard evolutionary parameters. Entropy rates are measures of the variation dependent on both short-run and long-run behavior, and allow the relationships between mutation, selection, and population size to be examined. Bounds for the entropy rate are given for the Moran process (independent of population size) and for the Wright-Fisher process (bounded for fixed population size). A generational Moran process is also presented for com…
A framework for the mathematical modeling of evolution in group structured populations is introduced. The population is divided into a fixed large number of groups of fixed size. From generation to generation, new groups are formed that descend from previous groups, through a two-level Fisher-Wright process, with selection between groups and within groups and with migration between groups at rate $m$. When $m=1$, the framework reduces to the often used trait-group framework, so that our setting can be seen as an extension of that approach. Our framework allows the analysis of previously introd…
We dedicate this paper to Sir John Kingman on his 70th Birthday. In modern mathematical population genetics the ancestral history of a population of genes back in time is described by John Kingman's coalescent tree. Classical and modern approaches model gene frequencies by diffusion processes. This paper, which is partly a review, discusses how coalescent processes are dual to diffusion processes in an analytic and probabilistic sense. Bochner (1954) and Gasper (1972) were interested in characterizations of processes with Beta stationary distributions and Jacobi polynomial eigenfunctions. We d…
We consider the Wright-Fisher model for a population of $N$ individuals, each identified with a sequence of a finite number of sites, and single-crossover recombination between them. We trace back the ancestry of single individuals from the present population. In the $N \to \infty$ limit without rescaling of parameters or time, this ancestral process is described by a random tree, whose branching events correspond to the splitting of the sequence due to recombination. With the help of a decomposition of the trees into subtrees, we calculate the probabilities of the topologies of the ancestral …
In a (two-type) Wright-Fisher diffusion with directional selection and two-way mutation, let $x$ denote today's frequency of the beneficial type, and given $x$, let $h(x)$ be the probability that, among all individuals of today's population, the individual whose progeny will eventually take over in the population is of the beneficial type. Fearnhead [Fearnhead, P., 2002. The common ancestor at a nonneutral locus. J. Appl. Probab. 39, 38-54] and Taylor [Taylor, J. E., 2007. The common ancestor process for a Wright-Fisher diffusion. Electron. J. Probab. 12, 808-847] obtained a series representat…
The Wright-Fisher Fokker-Planck equation describes the stochastic dynamics of self-reproducing, competing variants at fixed population size. We use Fisher's angular transformation, which defines a natural length for this stochastic process, to remove the co-ordinate dependence of it's diffusive dynamics, resulting in simple Brownian motion in an unstable potential, driving variants to extinction or fixation. This insight allows calculation of very accurate asymptotic formula for the Green's function under neutrality and selection, using a novel heuristic Gaussian approximation.
Multiple Poisson-Dirichlet diffusions on generalized Kingman simplices
National Group for Mathematical Analysis, Probability and Applications, INdAM（意大利国家数学分析、概率与应用小组，INdAM）；Stern School of Business, NYU Abu Dhabi（纽约大学阿布扎比分校斯特恩商学院）
Moran or Wright-Fisher processes are probably the most well known model to study the evolution of a population under various effects. Our object of study will be the Simpson index which measures the level of diversity of the population, one of the key parameter for ecologists who study for example forest dynamics. Following ecological motivations, we will consider here the case where there are various species with fitness and immigration parameters being random processes (and thus time evolving). To measure biodiversity, ecologists generally use the Simpson index, who has no closed formula, ex…
Near the beginning of the century, Wright and Fisher devised an elegant, mathematically tractable model of gene reproduction and replacement that laid the foundation for contemporary population genetics. The Wright-Fisher model and its extensions have given biologists powerful tools of statistical inference that enabled the quantification of genetic drift and selection. Given the utility of these tools, we often forget that their model - for mathematical, and not biological reasons - makes assumptions that are violated in most real-world populations. In this paper, I consider an alternative fr…
We first revisit the multi-allelic mutation-fitness balance problem, especially when mutations obey a house of cards condition, where the discrete-time deterministic evolutionary dynamics of the allelic frequencies derives from a Shahshahani potential. We then consider multi-allelic Wright-Fisher stochastic models whose deviation to neutrality is from the Shahsha-hani mutation/selection potential. We next focus on the weak selection, weak mutation cases and, making use of a Gamma calculus, we compute the normalizing partition functions of the invariant probability densities appearing in their …
