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.
Authors
- Frédéric Austerlitz (ORCID: https://orcid.org/0000-0001-8031-455X)
- Évelyne Heyer (ORCID: https://orcid.org/0000-0002-0266-3196)
- Fanny Pouyet (ORCID: https://orcid.org/0000-0001-5614-6998)
- Bruno Toupance (ORCID: https://orcid.org/0000-0002-8244-1824)
- Ferdinand Petit
- Jérémy Guez (ORCID: https://orcid.org/0009-0007-6406-5187)
- Flora Jay
- Léo Planche
Institutions
- Centre National de la Recherche Scientifique (FR)
- Université Paris Cité (FR)
- Université Paris-Saclay (FR)
- Éco-Anthropologie (FR)
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