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Accounting for Linkage Disequilibrium in genome scans for selection without individual genotypes: the local score approach

机译:考虑基因组扫描中连锁不平衡的问题,无需单独基因型进行选择:局部评分法

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摘要

Detecting genomic footprints of selection is an important step in the understanding of evolution. Accounting for linkage disequilibrium in genome scans increases detection power, but haplotype-based methods require individual genotypes and are not applicable on pool-sequenced samples. We propose to take advantage of the local score approach to account for linkage disequilibrium in genome scans for selection, cumulating (possibly small) signals from single markers over a genomic segment, to clearly pinpoint a selection signal. Using computer simulations, we demonstrate that this approach detects selection with higher power than several state-of-the-art single marker, windowing or haplotype-based approaches. We illustrate this on two benchmark data sets including individual genotypes, for which we obtain similar results with the local score and one haplotype-based approach. Finally, we apply the local score approach to Pool-Seq data obtained from a divergent selection experiment on behavior in quail, and obtain precise and biologically coherent selection signals: while competing methods fail to highlight any clear selection signature, our method detects several regions involving genes known to act on social responsiveness or autistic traits. Although we focus here on the detection of positive selection from multiple population data, the local score approach is general and can be applied to other genome scans for selection or other genome-wide analyses such as GWAS.
机译:检测选择的基因组足迹是理解进化的重要一步。考虑基因组扫描中的连锁不平衡会增加检测能力,但是基于单倍型的方法需要单独的基因型,不适用于池测序的样品。我们建议利用局部评分方法来解决基因组扫描中选择的连锁不平衡问题,从基因组片段上的单个标记累积(可能很小)信号,以明确指出选择信号。通过计算机仿真,我们证明了该方法比几种最新的基于单标记,开窗或基于单倍型的方法具有更高的检测能力。我们在包括个人基因型的两个基准数据集上对此进行了说明,对于它们,我们获得了与本地评分和一种基于单倍型方法相似的结果。最后,我们将局部评分方法应用于从鹌鹑行为的发散选择实验中获得的Pool-Seq数据,并获得精确且生物学上一致的选择信号:尽管竞争方法无法突出显示任何清晰的选择特征,但我们的方法可检测到多个涉及已知会影响社会反应能力或自闭症特征的基因。尽管我们在这里着重于从多个群体数据中检测阳性选择,但是局部评分方法是通用的,可以应用于其他基因组扫描以进行选择或其他全基因组分析,例如GWAS。

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