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      Inferring population history with DIY ABC: a user-friendly approach to approximate Bayesian computation

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          Abstract

          Summary: Genetic data obtained on population samples convey information about their evolutionary history. Inference methods can extract part of this information but they require sophisticated statistical techniques that have been made available to the biologist community (through computer programs) only for simple and standard situations typically involving a small number of samples. We propose here a computer program ( DIY ABC) for inference based on approximate Bayesian computation (ABC), in which scenarios can be customized by the user to fit many complex situations involving any number of populations and samples. Such scenarios involve any combination of population divergences, admixtures and population size changes. DIY ABC can be used to compare competing scenarios, estimate parameters for one or more scenarios and compute bias and precision measures for a given scenario and known values of parameters (the current version applies to unlinked microsatellite data). This article describes key methods used in the program and provides its main features. The analysis of one simulated and one real dataset, both with complex evolutionary scenarios, illustrates the main possibilities of DIY ABC.

          Availability: The software DIY ABC is freely available at http://www.montpellier.inra.fr/CBGP/diyabc.

          Contact: j.cornuet@ 123456imperial.ac.uk

          Supplementary information: Supplementary data are also available at http://www.montpellier.inra.fr/CBGP/diyabc

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          Most cited references35

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          Detection of reduction in population size using data from microsatellite loci.

          We demonstrate that the mean ratio of the number of alleles to the range in allele size, which we term M, calculated from a population sample of microsatellite loci, can be used to detect reductions in population size. Using simulations, we show that, for a general class of mutation models, the value of M decreases when a population is reduced in size. The magnitude of the decrease is positively correlated with the severity and duration of the reduction in size. We also find that the rate of recovery of M following a reduction in size is positively correlated with post-reduction population size, but that recovery occurs in both small and large populations. This indicates that M can distinguish between populations that have been recently reduced in size and those which have been small for a long time. We employ M to develop a statistical test for recent reductions in population size that can detect such changes for more than 100 generations with the post-reduction demographic scenarios we examine. We also compute M for a variety of populations and species using microsatellite data collected from the literature. We find that the value of M consistently predicts the reported demographic history for these populations. This method, and others like it, promises to be an important tool for the conservation and management of populations that are in need of intervention or recovery.
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            A comprehensive genetic map of the human genome based on 5,264 microsatellites.

            The great increase in successful linkage studies in a number of higher eukaryotes during recent years has essentially resulted from major improvements in reference genetic linkage maps, which at present consist of short tandem repeat polymorphisms of simple sequences or microsatellites. We report here the last version of the Généthon human linkage map. This map consists of 5,264 short tandem (AC/TG)n repeat polymorphisms with a mean heterozygosity of 70%. The map spans a sex-averaged genetic distance of 3,699 cM and comprises 2,335 positions, of which 2,032 could be ordered with an odds ratio of at least 1,000:1 against alternative orders. The average interval size is 1.6 cM; 59% of the map is covered by intervals of 2 cM at most and 1% remains in intervals above 10 cM.
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              Statistical evaluation of alternative models of human evolution.

              An appropriate model of recent human evolution is not only important to understand our own history, but it is necessary to disentangle the effects of demography and selection on genome diversity. Although most genetic data support the view that our species originated recently in Africa, it is still unclear if it completely replaced former members of the Homo genus, or if some interbreeding occurred during its range expansion. Several scenarios of modern human evolution have been proposed on the basis of molecular and paleontological data, but their likelihood has never been statistically assessed. Using DNA data from 50 nuclear loci sequenced in African, Asian and Native American samples, we show here by extensive simulations that a simple African replacement model with exponential growth has a higher probability (78%) as compared with alternative multiregional evolution or assimilation scenarios. A Bayesian analysis of the data under this best supported model points to an origin of our species approximately 141 thousand years ago (Kya), an exit out-of-Africa approximately 51 Kya, and a recent colonization of the Americas approximately 10.5 Kya. We also find that the African replacement model explains not only the shallow ancestry of mtDNA or Y-chromosomes but also the occurrence of deep lineages at some autosomal loci, which has been formerly interpreted as a sign of interbreeding with Homo erectus.
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                Author and article information

                Journal
                Bioinformatics
                bioinformatics
                bioinfo
                Bioinformatics
                Oxford University Press
                1367-4803
                1460-2059
                1 December 2008
                7 October 2008
                7 October 2008
                : 24
                : 23
                : 2713-2719
                Affiliations
                1Department of Epidemiology and Public Health, Imperial College, St Mary's Campus, Norfolk Place, London W2 1PG, UK, 2Centre de Biologie et de Gestion des Populations, INRA, Campus International de Baillarguet, CS 30016 34988 Montferrier-sur-Lez, France, 3School of Biological Sciences, Lyle Building, The University of Reading Whiteknights, Reading RG6 6AS, UK, 4CEREMADE, Université Paris-Dauphine, Place Delattre de Tassigny, 75775 Paris cedex 16, 5INRIA Saclay, Projet select, Université Paris-Sud, Laboratoire de Mathématiques (Bât. 425), 91400 Orsay and 6UMR 1301 I.B.S.V. INRA-UNSA-CNRS, 400 Route des Chappes, BP 167 - 06903 Sophia Antipolis cedex. France
                Author notes
                *To whom correspondence should be addressed.

                Associate Editor: Martin Bishop

                Article
                btn514
                10.1093/bioinformatics/btn514
                2639274
                18842597
                f3fd7637-6d96-468c-8680-99743bf153ac
                © 2008 The Author(s)

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 17 June 2008
                : 5 September 2008
                : 2 October 2008
                Categories
                Original Papers
                Genetics and Population Analysis

                Bioinformatics & Computational biology
                Bioinformatics & Computational biology

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