High-recombining genomic regions affect demography inference based on ancestral recombination graphs

Multiple methods of demography inference are based on the ancestral recombination graph. This powerful approach uses observed mutations to model local genealogies changing along chromosomes by historical recombination events. However, inference of underlying genealogies is difficult in regions with high recombination rate relative to mutation rate due to the lack of mutations representing genealogies. Despite the prevalence of high-recombining genomic regions in some organisms, such as birds, its impact on demography inference based on ancestral recombination graphs has not been well studied. Here, we use population genomic simulations to investigate the impact of high-recombining regions on demography inference based on ancestral recombination graphs. We demonstrate that inference of effective population size and the time of population split events is systematically affected when high-recombining regions cover wide breadths of the chromosomes. Excluding high-recombining genomic regions can practically mitigate this impact, and population genomic inference of recombination maps is informative in defining such regions although the estimated values of local recombination rate can be biased. Finally, we confirm the relevance of our findings in empirical analysis by contrasting demography inferences applied for a bird species, the Eurasian blackcap (Sylvia atricapilla), using different parts of the genome with high and low recombination rates. Our results suggest that demography inference methods based on ancestral recombination graphs should be carried out with caution when applied in species whose genomes contain long stretches of high-recombining regions.

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Publication Details

Journal
Genetics
Published
2025-01-10
DOI
https://doi.org/10.1093/genetics/iyaf004
Citations
6
Primary Topic
Genetic and phenotypic traits in livestock
Type
article
Field-Weighted Citation Impact
9.09

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article

High-recombining genomic regions affect demography inference based on ancestral recombination graphs

Miriam Liedvogel, Jun Ishigohoka
6 citations
Genetics
Genetic and phenotypic traits in livestock
9.09
article

High-recombining genomic regions affect demography inference based on ancestral recombination graphs

Miriam Liedvogel, Jun Ishigohoka
article en
6 citations

Abstract

Multiple methods of demography inference are based on the ancestral recombination graph. This powerful approach uses observed mutations to model local genealogies changing along chromosomes by historical recombination events. However, inference of underlying genealogies is difficult in regions with high recombination rate relative to mutation rate due to the lack of mutations representing genealogies. Despite the prevalence of high-recombining genomic regions in some organisms, such as birds, its impact on demography inference based on ancestral recombination graphs has not been well studied. Here, we use population genomic simulations to investigate the impact of high-recombining regions on demography inference based on ancestral recombination graphs. We demonstrate that inference of effective population size and the time of population split events is systematically affected when high-recombining regions cover wide breadths of the chromosomes. Excluding high-recombining genomic regions can practically mitigate this impact, and population genomic inference of recombination maps is informative in defining such regions although the estimated values of local recombination rate can be biased. Finally, we confirm the relevance of our findings in empirical analysis by contrasting demography inferences applied for a bird species, the Eurasian blackcap (Sylvia atricapilla), using different parts of the genome with high and low recombination rates. Our results suggest that demography inference methods based on ancestral recombination graphs should be carried out with caution when applied in species whose genomes contain long stretches of high-recombining regions.

GeneticsVol. 229(3)
Carl von Ossietzky Universität Oldenburg (DE), Institute of Avian Research (DE), Max Planck Institute for Evolutionary Biology (DE)
International Max Planck Research School for Environmental, Cellular and Molecular Microbiology, Deutsche Forschungsgemeinschaft, Max-Planck-Gesellschaft
Openalex Percentile: Top 3%
Genetic and phenotypic traits in livestock
9.09
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