A likelihood-based framework for demographic inference from genealogical trees

IF 29 1区 生物学 Q1 GENETICS & HEREDITY Nature genetics Pub Date : 2025-03-20 DOI:10.1038/s41588-025-02129-x
Caoqi Fan, Jordan L. Cahoon, Bryan L. Dinh, Diego Ortega-Del Vecchyo, Christian D. Huber, Michael D. Edge, Nicholas Mancuso, Charleston W. K. Chiang
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Abstract

The demographic history of a population underlies patterns of genetic variation and is encoded in the gene-genealogical trees of the sampled haplotypes. Here we propose a demographic inference framework called the genealogical likelihood (gLike). Our method uses a graph-based structure to summarize the relationships among all lineages in a gene-genealogical tree with all possible trajectories of population memberships through time and derives the full likelihood across trees under a parameterized demographic model. We show through simulations and empirical applications that for populations that have experienced multiple admixtures, gLike can accurately estimate dozens of demographic parameters, including ancestral population sizes, admixture timing and admixture proportions, and it outperforms conventional demographic inference methods using the site frequency spectrum. Taken together, our proposed gLike framework harnesses underused genealogical information to offer high sensitivity and accuracy in inferring complex demographies for humans and other species. gLike infers population demographic histories with a variety of complex admixture events by analysis of graphs of states, which conceptualize the relationships of all lineages found in trees encoded in the ancestral recombination graph.

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基于可能性的从家谱树进行人口统计推断的框架
一个种群的人口统计历史是遗传变异模式的基础,并被编码在样本单倍型的基因谱系树中。在这里,我们提出了一个称为谱系可能性(gLike)的人口统计学推断框架。我们的方法使用基于图的结构来总结基因谱系树中所有谱系之间的关系,这些谱系具有随时间变化的所有可能的种群成员轨迹,并在参数化人口统计模型下导出树间的全似然。我们通过模拟和经验应用表明,对于经历过多种外加剂的种群,gLike可以准确地估计数十种人口统计参数,包括祖先种群规模、外加剂时间和外加剂比例,并且优于使用现场频谱的传统人口统计推断方法。综上所述,我们提出的gLike框架利用未充分利用的家谱信息,为推断人类和其他物种的复杂人口统计提供了高灵敏度和准确性。
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来源期刊
Nature genetics
Nature genetics 生物-遗传学
CiteScore
43.00
自引率
2.60%
发文量
241
审稿时长
3 months
期刊介绍: Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human and plant traits and on other model organisms. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. Integrative genetic topics comprise, but are not limited to: -Genes in the pathology of human disease -Molecular analysis of simple and complex genetic traits -Cancer genetics -Agricultural genomics -Developmental genetics -Regulatory variation in gene expression -Strategies and technologies for extracting function from genomic data -Pharmacological genomics -Genome evolution
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