Recoverability of ancestral recombination graph topologies

IF 1.2 4区 生物学 Q4 ECOLOGY Theoretical Population Biology Pub Date : 2023-08-05 DOI:10.1016/j.tpb.2023.07.004
Elizabeth Hayman , Anastasia Ignatieva , Jotun Hein
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Abstract

Recombination is a powerful evolutionary process that shapes the genetic diversity observed in the populations of many species. Reconstructing genealogies in the presence of recombination from sequencing data is a very challenging problem, as this relies on mutations having occurred on the correct lineages in order to detect the recombination and resolve the ordering of coalescence events in the local trees. We investigate the probability of reconstructing the true topology of ancestral recombination graphs (ARGs) under the coalescent with recombination and gene conversion. We explore how sample size and mutation rate affect the inherent uncertainty in reconstructed ARGs, which sheds light on the theoretical limitations of ARG reconstruction methods. We illustrate our results using estimates of evolutionary rates for several organisms; in particular, we find that for parameter values that are realistic for SARS-CoV-2, the probability of reconstructing genealogies that are close to the truth is low.

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祖先重组图拓扑的可恢复性
重组是一个强大的进化过程,它塑造了在许多物种种群中观察到的遗传多样性。在测序数据中存在重组的情况下重建谱系是一个非常具有挑战性的问题,因为这依赖于在正确的谱系上发生的突变,以检测重组并解决局部树中合并事件的顺序。我们研究了在与重组和基因转换联合的情况下重建祖先重组图(ARGs)真实拓扑的概率。我们探讨了样本量和突变率如何影响重建ARG的固有不确定性,这揭示了ARG重建方法的理论局限性。我们使用对几种生物进化率的估计来说明我们的结果;特别是,我们发现,对于对严重急性呼吸系统综合征冠状病毒2型来说现实的参数值,重建接近事实的谱系的概率很低。
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来源期刊
Theoretical Population Biology
Theoretical Population Biology 生物-进化生物学
CiteScore
2.50
自引率
14.30%
发文量
43
审稿时长
6-12 weeks
期刊介绍: An interdisciplinary journal, Theoretical Population Biology presents articles on theoretical aspects of the biology of populations, particularly in the areas of demography, ecology, epidemiology, evolution, and genetics. Emphasis is on the development of mathematical theory and models that enhance the understanding of biological phenomena. Articles highlight the motivation and significance of the work for advancing progress in biology, relying on a substantial mathematical effort to obtain biological insight. The journal also presents empirical results and computational and statistical methods directly impinging on theoretical problems in population biology.
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