Estimating contemporary effective population size in non-model species using linkage disequilibrium across thousands of loci

Abstract

Contemporary effective population size (N e) can be estimated using linkage disequilibrium (LD) observed across pairs of loci presumed to be selectively neutral and unlinked. This method has been commonly applied to data sets containing 10-100 loci to inform conservation and study population demography. Performance of these N e estimates could be improved by incorporating data from thousands of loci. However, these thousands of loci exist on a limited number of chromosomes, ensuring that some fraction will be physically linked. Linked loci have elevated LD due to limited recombination, which if not accounted for can cause N e estimates to be downwardly biased. Here, we present results from coalescent and forward simulations designed to evaluate the bias of LD-based N e estimates ([Ncirc ] e). Contrary to common perceptions, increasing the number of loci does not increase the magnitude of linkage. Although we show it is possible to identify some pairs of loci that produce unusually large r 2 values, simply removing large r 2 values is not a reliable way to eliminate bias. Fortunately, the magnitude of bias in [Ncirc ] e is strongly and negatively correlated with the process of recombination, including the number of chromosomes and their length, and this relationship provides a general way to adjust for bias. Additionally, we show that with thousands of loci, precision of [Ncirc ] e is much lower than expected based on the assumption that each pair of loci provides completely independent information.