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Statistical genetics in and out of quasi-linkage equilibrium
Reports on Progress in Physics ( IF 18.1 ) Pub Date : 2023-04-04 , DOI: 10.1088/1361-6633/acc5fa
Vito Dichio 1 , Hong-Li Zeng 2 , Erik Aurell 3
Affiliation  

This review is about statistical genetics, an interdisciplinary topic between statistical physics and population biology. The focus is on the phase of quasi-linkage equilibrium (QLE). Our goals here are to clarify under which conditions the QLE phase can be expected to hold in population biology and how the stability of the QLE phase is lost. The QLE state, which has many similarities to a thermal equilibrium state in statistical mechanics, was discovered by M Kimura for a two-locus two-allele model, and was extended and generalized to the global genome scale by Neher & Shraiman (2011). What we will refer to as the Kimura–Neher–Shraiman theory describes a population evolving due to the mutations, recombination, natural selection and possibly genetic drift. A QLE phase exists at sufficiently high recombination rate (r) and/or mutation rates µ with respect to selection strength. We show how in QLE it is possible to infer the epistatic parameters of the fitness function from the knowledge of the (dynamical) distribution of genotypes in a population. We further consider the breakdown of the QLE regime for high enough selection strength. We review recent results for the selection-mutation and selection-recombination dynamics. Finally, we identify and characterize a new phase which we call the non-random coexistence where variability persists in the population without either fixating or disappearing.

中文翻译:

准连锁平衡内外的统计遗传学

这篇综述是关于统计遗传学的,它是统计物理学和种群生物学之间的一个交叉学科。重点是阶段准连锁均衡(QLE)。我们的目标是阐明在哪些条件下 QLE 阶段可以预期在种群生物学中保持以及 QLE 阶段的稳定性如何丢失。QLE 状态与统计力学中的热平衡状态有许多相似之处,由 M Kimura 发现用于双基因座双等位基因模型,并被扩展并推广到全球基因组规模内尔&雪莱曼 (2011). 我们将称之为 Kimura–Neher–Shraiman 理论的东西描述了由于突变、重组、自然选择和可能的遗传漂变而进化的种群。QLE相以足够高的重组率存在(r) 和/或突变率µ关于选择强度。我们展示了在 QLE 中如何根据群体中基因型(动态)分布的知识推断适应度函数的上位参数。我们进一步考虑了 QLE 制度的崩溃以获得足够高的选择强度。我们回顾了选择突变和选择重组动力学的最新结果。最后,我们确定并描述了一个新阶段,我们称之为非随机共存,其中变异性在人口中持续存在,既没有固定也没有消失。
更新日期:2023-04-04
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