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Estimating effective population size from linkage disequilibrium: severe bias in small samples
Authors:Phillip R England  Jean-Marie Cornuet  Pierre Berthier  David A Tallmon  Gordon Luikart
Institution:(1) CSIRO Division of Marine & Atmospheric Research, Private Bag 5, Wembley, WA, 6913, Australia;(2) Centre de Biologie et de Gestion des Populations, Campus International de Baillarguet, Montferrier sur Lez, Saint Gely du Fesc, France;(3) Populations genetik, Zoologisches Institut, Universität Bern, 6, Baltzerstrasse, Bern, Switzerland;(4) Biology Program, University of Alaska Southeast, Juneau, AK, USA;(5) Division of Biological Sciences, University of Montana, Missoula, MT 59812, USA;(6) Present address: Centro de Investigação em Biodiversidade e␣Recursos Geneticos (CIBIO-UP), Universidade do Porto, Campus Agrario de Vairao, Rua Padre Armando Quintas, 4485-661 Vairao, Portugal
Abstract:Effective population size (N e) is a central concept in evolutionary biology and conservation genetics. It predicts rates of loss of neutral genetic variation, fixation of deleterious and favourable alleles, and the increase of inbreeding experienced by a population. A method exists for the estimation of N e from the observed linkage disequilibrium between unlinked loci in a population sample. While an increasing number of studies have applied this method in natural and managed populations, its reliability has not yet been evaluated. We developed a computer program to calculate this estimator of N e using the most widely used linkage disequilibrium algorithm and used simulations to show that this estimator is strongly biased when the sample size is small (<‰100) and below the true N e. This is probably due to the linkage disequilibrium generated by the sampling process itself and the inadequate correction for this phenomenon in the method. Results suggest that N e estimates derived using this method should be regarded with caution in many cases. To improve the method’s reliability and usefulness we propose a way to determine whether a given sample size exceeds the population N e and can therefore be used for the computation of an unbiased estimate.
Keywords:effective population size  linkage disequilibrium  sampling bias
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