Department of Ecology and Evolution, University of Chicago, Chicago, Illinois, USA; email:
Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.
Annu Rev Genet. 2024 Nov;58(1):319-339. doi: 10.1146/annurev-genet-111523-102651. Epub 2024 Nov 14.
Uncovering the fundamental processes that shape genomic variation in natural populations is a primary objective of population genetics. These processes include demographic effects such as past changes in effective population size or gene flow between structured populations. Furthermore, genomic variation is affected by selection on nonneutral genetic variants, for example, through the adaptation of beneficial alleles or balancing selection that maintains genetic variation. In this article, we discuss the characterization of these processes using population genetic models, and we review methods developed on the basis of these models to unravel the underlying processes from modern population genomic data sets. We briefly discuss the conditions in which these approaches can be used to infer demography or identify specific nonneutral genetic variants and cases in which caution is warranted. Moreover, we summarize the challenges of jointly inferring demography and selective processes that affect neutral variation genome-wide.
揭示自然种群中基因组变异形成的基本过程是群体遗传学的主要目标。这些过程包括人口统计学效应，例如有效种群大小的过去变化或结构种群之间的基因流动。此外，基因组变异受到非中性遗传变异选择的影响，例如通过有益等位基因的适应或维持遗传变异的平衡选择。在本文中，我们讨论了使用群体遗传模型对这些过程进行表征的方法，并回顾了基于这些模型开发的方法，以从现代群体基因组数据集揭示潜在的过程。我们简要讨论了这些方法可以用于推断人口统计学或识别特定非中性遗传变异的条件，以及在何种情况下需要谨慎。此外，我们总结了联合推断影响全基因组中性变异的人口统计学和选择过程的挑战。
