Comparing ARG inference methods under transmission of reproductive success: tree imbalance matters

Inferring coalescent trees from genomic data has become a major subject in population genetics, particularly with the recent advances in tree sequence reconstruction methods. However, it remains unclear how well these methods perform for imbalanced genealogies. Such imbalances can arise from processes such as cultural transmission of reproductive success (CTRS) or positive selection. Using simulated genomic data, we benchmarked three major software packages, SINGER, Relate and tsinfer, by comparing the imbalance of reconstructed trees by these methods with that of the true simulated trees, for three indices that quantify this imbalance. The three methods performed well under scenarios yielding balanced trees. However, their accuracy declined as imbalance increased. Performances also varied with mutation rate, recombination rate, and sample size. This study opens possibilities for applying these methods to infer CTRS or positive selection in large-scale genomic datasets, using simulation-based inference such as approximate Bayesian computation.

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Publication Details

Journal
Genome Biology and Evolution
Published
2026-08-25
DOI
https://doi.org/10.1093/gbe/evag215
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
0.00
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article

Comparing ARG inference methods under transmission of reproductive success: tree imbalance matters

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Genome Biology and Evolution
Genetic Associations and Epidemiology
article

Comparing ARG inference methods under transmission of reproductive success: tree imbalance matters

Frédéric Austerlitz, Évelyne Heyer, Fanny Pouyet, Bruno Toupance, Ferdinand Petit, Jérémy Guez, Flora Jay, Léo Planche
article en

Abstract

Inferring coalescent trees from genomic data has become a major subject in population genetics, particularly with the recent advances in tree sequence reconstruction methods. However, it remains unclear how well these methods perform for imbalanced genealogies. Such imbalances can arise from processes such as cultural transmission of reproductive success (CTRS) or positive selection. Using simulated genomic data, we benchmarked three major software packages, SINGER, Relate and tsinfer, by comparing the imbalance of reconstructed trees by these methods with that of the true simulated trees, for three indices that quantify this imbalance. The three methods performed well under scenarios yielding balanced trees. However, their accuracy declined as imbalance increased. Performances also varied with mutation rate, recombination rate, and sample size. This study opens possibilities for applying these methods to infer CTRS or positive selection in large-scale genomic datasets, using simulation-based inference such as approximate Bayesian computation.

Genome Biology and Evolution
Centre National de la Recherche Scientifique (FR), Université Paris Cité (FR), Université Paris-Saclay (FR), Éco-Anthropologie (FR)
Openalex Percentile: Top 11%
Genetic Associations and Epidemiology
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