The advent of high throughput sequencing and genotyping technologies enables the comparison of patterns of polymorphisms at a very large number of markers. While the characterization of genetic structure from individual sequencing data remains expensive for many non-model species, it has been shown that sequencing pools of individual DNAs (Pool-seq) represents an attractive and cost-effective alternative. However, analyzing sequence read counts from a DNA pool instead of individual genotypes raises statistical challenges in deriving correct estimates of genetic differentiation. In this article, we provide a method-of-moments estimator of F_ST for Pool-seq data, based on an analysis-of-variance framework. We show, by means of simulations, that this new estimator is unbiased, and outperforms previously proposed estimators. We evaluate the robustness of our estimator to model misspecification, such as sequencing errors and uneven contributions of individual DNAs to the pools. Finally, by reanalyzing published Pool-seq data of different ecotypes of the prickly sculpin Cottus asper, we show how the use of an unbiased F_ST estimator may question the interpretation of population structure inferred from previous analyses.

Evidence is accumulating that evolutionary changes are not only common during biological invasions but may also contribute directly to invasion success. The genomic basis of such changes is still largely unexplored. Yet, understanding the genomic response to invasion may help to predict the conditions under which invasiveness can be enhanced or suppressed. Here, we characterized the genome response of the spotted wing drosophila Drosophila suzukii during the worldwide invasion of this pest insect species, by conducting a genome-wide association study to identify genes involved in adaptive processes during invasion. Genomic data from 22 population samples were analyzed to detect genetic variants associated with the status (invasive versus native) of the sampled populations based on a newly developed statistic, we called C2, that contrasts allele frequencies corrected for population structure. We evaluated this new statistical framework using simulated data sets and implemented it in an upgraded version of the program BayPass. We identified a relatively small set of single-nucleotide polymorphisms that show a highly significant association with the invasive status of D. suzukii populations. In particular, two genes, RhoGEF64C and cpo, contained single-nucleotide polymorphisms significantly associated with the invasive status in the two separate main invasion routes of D. suzukii. Our methodological approaches can be applied to any other invasive species, and more generally to any evolutionary model for species characterized by nonequilibrium demographic conditions for which binary covariables of interest can be defined at the population level.

Identifying homozygous‐by‐descent (HBD) regions in individual genomes is highly valuable to infer the recent history of populations and to provide insights into trait architecture. Here, we present the RZooRoH R‐package that implements an efficient and accurate model‐based approach to identify HBD segments. The underlying hidden Markov model partitions the genome‐wide individual autozygosity into different age‐related HBD classes while accounting for genotyping errors and genetic map information. The RZooRoH package is user‐friendly and versatile, accepting either genotyping or sequencing (including low‐coverage) data in various formats. Through numerical maximization and parallelization, computational performances were improved compared to our initial Fortran implementation of the model. The package allows to evaluate and compare various models defined by their number of HBD classes and it also provides several graphical functions that help interpretation of the results. RZooRoH is an efficient tool that proves particularly suited for sub‐optimal datasets (e.g. low marker density, individual low‐coverage sequencing, uneven marker spacing) and for individuals from populations with complex demographic histories. RZooRoH is available from CRAN: https://CRAN.R-project.org/package=RZooRoH.

Over the past decade, the spotted wing Drosophila, Drosophila suzukii, has invaded Europe and America and has become a major agricultural pest in these areas, thereby prompting intense research activities to better understand its biology. Two draft genome assemblies already exist for this species but contain pervasive assembly errors and are highly fragmented, which limits their values. Our purpose here was to improve the assembly of theD. suzukiigenome and to annotate it in a way that facilitates comparisons withD. melanogaster. For this, we generated PacBio long-read sequencing data and assembled a novel, high-qualityD. suzukiigenome assembly. It is one of the largestDrosophilagenomes, notably because of the expansion of its repeatome. We found that despite 16 rounds of full-sib crossings theD. suzukiistrain that we sequenced has maintained high levels of polymorphism in some regions of its genome. As a consequence, the quality of the assembly of these regions was reduced. We explored possible origins of this high residual diversity, including the presence of structural variants and a possible heterogeneous admixture pattern of North American and Asian ancestry. Overall, our assembly and annotation constitute a high-quality genomic resource that can be used for both high-throughput sequencing approaches, as well as manipulative genetic technologies to studyD. suzukii.