Abstract

The effective population size () is a major factor determining allele frequency changes in natural and experimental populations. Temporal methods provide a powerful and simple approach to estimate short-term They use allele frequency shifts between temporal samples to calculate the standardized variance, which is directly related to Here we focus on experimental evolution studies that often rely on repeated sequencing of samples in pools (Pool-seq). Pool-seq is cost-effective and often outperforms individual-based sequencing in estimating allele frequencies, but it is associated with atypical sampling properties: Additional to sampling individuals, sequencing DNA in pools leads to a second round of sampling, which increases the variance of allele frequency estimates. We propose a new estimator of which relies on allele frequency changes in temporal data and corrects for the variance in both sampling steps. In simulations, we obtain accurate estimates, as long as the drift variance is not too small compared to the sampling and sequencing variance. In addition to genome-wide estimates, we extend our method using a recursive partitioning approach to estimate locally along the chromosome. Since the type I error is controlled, our method permits the identification of genomic regions that differ significantly in their estimates. We present an application to Pool-seq data from experimental evolution with Drosophila and provide recommendations for whole-genome data. The estimator is computationally efficient and available as an R package at https://github.com/ThomasTaus/Nest.

Highlights

  • The effective population size (Ne) is a major factor determining allele frequency changes in natural and experimental populations

  • We investigated the sensitivity of our estimator to linkage disequilibrium between loci, using genome-wide neutral simulations with recombination (Kofler and Schlötterer 2014)

  • Effective population size is an important parameter for describing evolutionary dynamics, making its accurate estimation essential for population genetic studies

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Summary

Materials and Methods

Nei and Tajima (1981) investigated the sampling properties of temporal Ne estimators and proposed two different sampling schemes. The authors pointed out that the expectation over F is typically approximated by taking the expected values separately for the numerator and the denominator (Turner et al 2001) They suggested a different weighting scheme of alleles leading to an alternative lessbiased estimator to measure temporal frequency change. Throughout the derivation we consider diploid populations, and a sample of Sj individuals leads to 2Sj sequences at times T 1⁄4 j 2 f0; tg: Sampling is assumed to be binomial with parameters 2Sj and pj (Waples 1989). Where ^z 1⁄4 ð^x þ ^yÞ=2: The expectation of Fc for a single biallelic locus is approximated by For both plans, we derive expressions for the numerator and denominator in Equation 5 separately under the two-step sampling procedure, described above. For plan II, Covð^x; ^yÞ 1⁄4 0 (Waples 1989), and Fc corrected for the noise coming from the two-step sampling for a single locus is given by

C0 2 1 2 Ct
Results and Discussion
Conclusions
Literature Cited
Calculating the expected normalized variation
The variance due to t generations of genetic drift is
Sampling plan II
Sampling plan I
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