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New methods for inference on demographic history from genetic data

Abstract : This thesis aims to improve statistical methods suitable for stochastic models of population genetics and to develop statistical methods adapted to next generation sequencing data.Sequential importance sampling algorithms have been defined to estimate likelihoods in models of ancestral population processes. However, these algorithms are based on features of the models with constant population size, and become inefficient when the population size varies in time, making likelihood-based inferences difficult in many demographic situations. In the first contribution of this thesis, we modify a previous sequential importance sampling algorithm to improve the efficiency of the likelihood estimation. Our procedure is still based on features of the model with constant size, but uses a resampling technique with a new resampling probability distribution depending on the pairwise composite likelihood. We tested our algorithm, called sequential importance sampling with resampling (SISR) on simulated data sets under different demographic cases. In most cases, we divided the computational cost by two for the same accuracy of inference, in some cases even by one hundred. This work provides the first assessment of the impact of such resampling techniques on parameter inference using sequential importance sampling, and extends the range of situations where likelihood inferences can be easily performed.The recent development of high-throughput sequencing technologies has revolutionized the generation of genetic data for many organisms : genome wide sequence data are now available. Classical inference methods (maximum likelihood methods (MCMC, IS), methods based on the Sites Frequency Spectrum (SFS)) suitable for polymorphism data sets of some loci assume that the genealogies of the loci are independent. To take advantage of genome wide sequence data with known genome, we need to consider the dependency of genealogies of adjacent positions in the genome. Thus, when we model recombination, the likelihood takes the form of an integral over all possible ancestral recombination graph for the sampled sequences. This space is of much larger dimension than the genealogies space, to the extent that we cannot handle likelihood-based inference while modeling recombination without further approximations.Several methods infer the historical changes in the effective population size but do not consider the complexity of the demographic model fitted.Even if some of them propose a control for potential over-fitting, to the best of our knowledge, no model choice procedure between demographic models of different complexity have been proposed based on IBS segment lengths. The aim of the second contribution of this thesis is to overcome this lack by proposing a model choice procedure between demographic models of different complexity. We focus on a simple model of constant population size and a slightly more complex model with a single past change in the population size.Since these models are embedded, we developed a penalized model choice criterion based on the comparison of observed and predicted haplotype homozygosity.Our penalization relies on Sobol's sensitivity indices and is a form of penalty related to the complexity of the model.This penalized model choice criterion allowed us to choose between a population of constant size and a population size with a past change on simulated data sets and also on a cattle data set.
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Submitted on : Wednesday, June 6, 2018 - 11:59:10 AM
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  • HAL Id : tel-01808999, version 1


Coralie Merle. New methods for inference on demographic history from genetic data. Statistics [math.ST]. Université Montpellier, 2016. English. ⟨NNT : 2016MONTT269⟩. ⟨tel-01808999⟩



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