The ancestral selection graph in population genetics was introduced by KroneNeuhauser (1997) as an analogue of the coalescent genealogy of a sample of genes from a neutrally evolving population. The number of particles in this graph, followed backwards in time, is a birth and death process with quadratic death and linear birth rates. In this paper an explicit form of the probability distribution of the number of particles is obtained by using the density of the allele frequency in the corresponding diffusion model obtained by Kimura (1955). It is shown that the process of fixation of the allele in the diffusion model corresponds to convergence of the ancestral process to its stationary measure. The time to fixation of the allele conditional on fixation is studied in terms of the ancestral process.
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.
Recently, the selection-recombination equation with a single selected site and an arbitrary number of neutral sites was solved by means of the ancestral selection-recombination graph. Here, we introduce a more accessible approach, namely the ancestral initiation graph. The construction is based on a discretisation of the selection-recombination equation. We apply our method to systematically explain a long-standing observation concerning the dynamics of linkage disequilibrium between two neutral loci hitchhiking along with a selected one. In particular, this clarifies the nontrivial dependence…
We review recent progress on ancestral processes related to mutation-selection models, both in the deterministic and the stochastic setting. We mainly rely on two concepts, namely, the killed ancestral selection graph and the pruned lookdown ancestral selection graph. The killed ancestral selection graph gives a representation of the type of a random individual from a stationary population, based upon the individual's potential ancestry back until the mutations that define the individual's type. The pruned lookdown ancestral selection graph allows one to trace the ancestry of individuals from …
We reconsider the deterministic haploid mutation-selection equation with two types. This is an ordinary differential equation that describes the type distribution (forward in time) in a population of infinite size. This paper establishes ancestral (random) structures inherent in this deterministic model. In a first step, we obtain a representation of the deterministic equation's solution (and, in particular, of its equilibrium) in terms of an ancestral process called the killed ancestral selection graph. This representation allows one to understand the bifurcations related to the error thresho…
We consider two versions of stochastic population models with mutation and selection. The first approach relies on a multitype branching process; here, individuals reproduce and change type (i.e., mutate) independently of each other, without restriction on population size. We analyze the equilibrium behaviour of this model, both in the forward and in the backward direction of time; the backward point of view emerges if the ancestry of individuals chosen randomly from the present population is traced back into the past. The second approach is the Moran model with selection. Here, the population…
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…
We reconsider the Moran model in continuous time with population size $N$, two allelic types, and selection. We introduce a new particle representation, which we call the labelled Moran model, and which has the same distribution of type frequencies as the original Moran model, provided the initial values are chosen appropriately. In the new model, individuals are labelled $1,2, \dots, N$; neutral resampling events may take place between arbitrary labels, whereas selective events only occur in the direction of increasing labels. With the help of elementary methods only, we not only recover fixa…
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…
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…
We consider a multi-type Moran model (in continuous time) with selection and type-dependent mutation. This paper is concerned with the evolution of genealogical information forward in time. For this purpose we define and analytically characterize a path-valued Markov process that contains in its state at time $t$ the extended ancestral lines (adding genealogical distances) of the population alive at time $t$. The main result is a representation for the conditional distribution of the extended ancestral lines of a subpopulation alive at a fixed time $T$ (present time) given the type information…
We consider the evolution of populations under the joint action of mutation and differential reproduction, or selection. The population is modelled as a finite-type Markov branching process in continuous time, and the associated genealogical tree is viewed both in the forward and the backward direction of time. The stationary type distribution of the reversed process, the so-called ancestral distribution, turns out as a key for the study of mutation-selection balance. This balance can be expressed in the form of a variational principle that quantifies the respective roles of reproduction and m…
The Moran model with recombination is considered, which describes the evolution of the genetic composition of a population under recombination and resampling. There are $n$ sites (or loci), a finite number of letters (or alleles) at every site, and we do not make any scaling assumptions. In particular, we do not assume a diffusion limit. We consider the following marginal ancestral recombination process. Let $S = \{1,...,n\}$ and $\mathcal A=\{A_1, ..., A_m\}$ be a partition of $S$. We concentrate on the joint probability of the letters at the sites in $A_1$ in individual $1$, $...$, and at th…
The complex correlation structure of a collection of orthologous DNA sequences is uniquely captured by the "ancestral recombination graph" (ARG), a complete record of coalescence and recombination events in the history of the sample. However, existing methods for ARG inference are computationally intensive, highly approximate, or limited to small numbers of sequences, and, as a consequence, explicit ARG inference is rarely used in applied population genomics. Here, we introduce a new algorithm for ARG inference that is efficient enough to apply to dozens of complete mammalian genomes. The key …
Natural selection is general and powerful concept not only to explain evolutionary processes of biological organisms but also to design engineering systems such as genetic algorithms and particle filters. There is a surge of interest, both from biology and engineering, in considering natural selection of intellectual agents that can learn individually. Learning by individual agents of better behaviors for survival may accelerate the evolutionary processes by natural selection. We have accumulating pieces of evidence that organisms can transmit its information to the next generation via epigene…
We study the equilibrium behaviour of a deterministic four-state mutation-selection model as a model for the evolution of a population of nucleotide sequences in sequence space. The mutation model is the Kimura 3ST mutation scheme, and the selection scheme is assumed to be invariant under permutation of sites. Considering the evolution process both forward and backward in time, we use the ancestral distribution as the stationary state of the backward process to derive an expression for the mutational loss (as the difference between ancestral and population mean fitness), and we prove a maximum…
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…
Evolutionary models for populations of constant size are frequently studied using the Moran model, the Wright-Fisher model, or their diffusion limits. When evolution is neutral, a random genealogy given through Kingman's coalescent is used in order to understand basic properties of such models. Here, we address the use of a genealogical perspective for models with weak frequency-dependent selection, i.e. N s =: α is small, and s is the fitness advantage of a fit individual and N is the population size. When computing fixation probabilities, this leads either to the approach proposed by Rousset…
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 apply our general method of duality, introduced in [Giardina', Kurchan, Redig, J. Math. Phys. 48, 033301 (2007)], to models of population dynamics. The classical dualities between forward and ancestral processes can be viewed as a change of representation in the classical creation and annihilation operators, both for diffusions dual to coalescents of Kingman's type, as well as for models with finite population size. Next, using SU(1,1) raising and lowering operators, we find new dualities between the Wright-Fisher diffusion with $d$ types and the Moran model, both in presence and absence of…
The shift from outcrossing to self-fertilization is among the most common transitions in plants. Until recently, however, a genome-wide view of this transition has been obscured by a dearth of appropriate data and the lack of appropriate population genomic methods to interpret such data. Here, we present novel analyses detailing the origin of the selfing species, Capsella rubella, which recently split from its outcrossing sister, Capsella grandiflora. Due to the recency of the split, most variation within C. rubella is found within C. grandiflora. We can therefore identify genomic regions wher…
The advent of accessible ancient DNA technology now allows the direct ascertainment of allele frequencies in ancestral populations, thereby enabling the use of allele frequency time series to detect and estimate natural selection. Such direct observations of allele frequency dynamics are expected to be more powerful than inferences made using patterns of linked neutral variation obtained from modern individuals. We develop a Bayesian method to make use of allele frequency time series data and infer the parameters of general diploid selection, along with allele age, in non-equilibrium populatio…
For a beneficial allele which enters a large unstructured population and eventually goes to fixation, it is known that the time to fixation is approximately $2\log(α)/α$ for a large selection coefficient $α$. For a population that is distributed over finitely many colonies, with migration between these colonies, we detect various regimes of the migration rate $μ$ for which the fixation times have different asymptotics as $α\to \infty$. If $μ$ is of order $α$, the allele fixes (as in the spatially unstructured case) in time $\sim 2\log(α)/α$. If $μ$ is of order $α^γ, 0\leq γ\leq 1$, the fixatio…
We consider a birth and death process in which death is due to both `natural death' and to competition between individuals, modelled as a quadratic function of population size. The resulting `logistic branching process' has been proposed as a model for numbers of individuals in populations competing for some resource, or for numbers of species. However, because of the quadratic death rate, even if the intrinsic growth rate is positive, the population will, with probability one, die out in finite time. There is considerable interest in understanding the process conditioned on non-extinction. In…
