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

Genetics

Max Planck Research Group Behavioural Genomics, Max Planck Institute for Evolutionary Biology, August-Thienemann-Straße 2, 24306 Plön, Germany.

Published: January 2025

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, yet the estimated values of local recombination rate may not be utilized for this decision. 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.

Download full-text PDF

Source
http://dx.doi.org/10.1093/genetics/iyaf004DOI Listing

Publication Analysis

Top Keywords

demography inference
20
based ancestral
20
ancestral recombination
20
inference based
16
recombination graphs
16
high-recombining genomic
12
genomic regions
12
high-recombining regions
12
recombination
10
regions
8

Similar Publications

Low-pass genome sequencing is cost-effective and enables analysis of large cohorts. However, it introduces biases by reducing heterozygous genotypes and low-frequency alleles, impacting subsequent analyses such as model-based demographic history inference. Several approaches exist for inferring an unbiased allele frequency spectrum (AFS) from low-pass data, but they can introduce spurious noise into the AFS.

View Article and Find Full Text PDF

Background: Malaria remains a leading cause of death worldwide, claiming over 600,000 lives each year. Over 90% of these deaths, mostly among children under 5 years, occur in sub-Saharan Africa and are caused by Plasmodium falciparum. The merozoites stage of the parasite, crucial for asexual development invade erythrocytes through ligand-receptor interactions.

View Article and Find Full Text PDF

Health state assessment method for complex system based on multiexpert joint belief rule base.

Sci Rep

January 2025

School of Computer Science and Information Engineering, Harbin Normal University, Harbin, 150025, China.

The health of complex systems continues to decline as they operate over long periods of time, so it is important to assess the health state of complex systems. Belief rule base (BRB) is widely used in the field of health state assessment of complex systems as a semi-quantitative method that can address uncertainty effectively and with interpretability. In practical engineering, BRB still has problems: the incompleteness of expert knowledge and the inconsistency of the cognitive abilities of each expert have an effect on the construction of the model and interpretability.

View Article and Find Full Text PDF

Objectives: To assess the association between sodium-glucose co-transporter-2 inhibitor (SGLT-2i) use and the risk of incident dementia compared with dipeptidyl peptidase-4 inhibitors (DPP-4i) use among individuals with type 2 diabetes.

Design: A population-based retrospective cohort study.

Setting: The Clinical Practice Research Datalink (CPRD) Aurum database from the UK.

View Article and Find Full Text PDF

Effective, practical options for managing disease in wildlife populations are limited, especially after diseases become established. Removal strategies (e.g.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!