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Inferring Recent Demography from Isolation by Distance of Long Shared Sequence Blocks

机译:通过长共享序列块的距离从隔离中推断最近的人口统计学

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Recently it has become feasible to detect long blocks of nearly identical sequence shared between pairs of genomes. These identity-by-descent (IBD) blocks are direct traces of recent coalescence events and, as such, contain ample signal to infer recent demography. Here, we examine sharing of such blocks in two-dimensional populations with local migration. Using a diffusion approximation to trace genetic ancestry, we derive analytical formulas for patterns of isolation by distance of IBD blocks, which can also incorporate recent population density changes. We introduce an inference scheme that uses a composite-likelihood approach to fit these formulas. We then extensively evaluate our theory and inference method on a range of scenarios using simulated data. We first validate the diffusion approximation by showing that the theoretical results closely match the simulated block-sharing patterns. We then demonstrate that our inference scheme can accurately and robustly infer dispersal rate and effective density, as well as bounds on recent dynamics of population density. To demonstrate an application, we use our estimation scheme to explore the fit of a diffusion model to Eastern European samples in the Population Reference Sample data set. We show that ancestry diffusing with a rate of ![Formula][1]/img during the last centuries, combined with accelerating population growth, can explain the observed exponential decay of block sharing with increasing pairwise sample distance. [1]: /embed/mml-math-1.gif
机译:最近,检测在基因组对之间共享的几乎相同序列的长片段已变得可行。这些按血统身份(IBD)块是最近合并事件的直接痕迹,因此包含足够的信号来推断最近的人口统计数据。在这里,我们研究了二维移民与当地移民在此类人群中的共享。使用扩散近似来追踪遗传祖先,我们得出了基于IBD区块距离的隔离模式的解析公式,该公式也可以包含最近的种群密度变化。我们介绍一种推理方案,该方案使用复合似然法来拟合这些公式。然后,我们使用模拟数据在各种场景下广泛评估我们的理论和推理方法。我们首先通过证明理论结果与模拟的块共享模式非常匹配来验证扩散近似。然后,我们证明了我们的推理方案可以准确,可靠地推断出扩散速度和有效密度,以及近期人口密度动态的界限。为了演示应用,我们使用估计方案来探索人口参考样本数据集中的扩散模型与东欧样本的拟合。我们表明,在过去的几个世纪中,祖先以![公式] [1] 的速度扩散,再加上人口增长的加速,可以解释观察到的块共享随成对样本距离的增加而呈指数衰减。 [1]:/embed/mml-math-1.gif

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