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PreprintCC BYbioRxiv

Ancestree: unified likelihood inference of ancestral alleles under supplied or inferred genealogies

  1. 1Aarhus University

Abstract

Inferring ancestral states--determining, at each polymorphic site, which allele is ancestral and which derived--underpins many downstream population-genetic analyses, from selection scans and the unfolded site-frequency spectrum to demographic inference. However, no existing tool uniformly supports the full range of relevant inputs: plain variant data or ancestral recombination graphs (ARGs), with or without outgroups, while accommodating poly-allelic and recurrently-mutated sites. Here we present Ancestree, a likelihood-based engine that unifies these inputs within a single framework and returns full posteriors over the four nucleotide states at every site. It runs in three modes: a fixed-tree mode that assumes a single topology across sites and co-infers the per-branch substitution rates by maximum likelihood; an ARG mode that reads a different local tree at each site directly from a supplied ancestral recombination graph; and a local-tree mode that instead samples those local trees from the genotype data via a pairwise-coalescent HMM, needing no pre-existing ARG. On simulated data, the genealogy-based modes (ARG and local-tree) are more accurate and scale better, and remain robust under outgroup configurations that violate the fixed-tree assumption. Outgroups themselves remain difficult to replace: per-site inference accuracy on ingroup-polymorphic sites is markedly limited without them, and improves substantially with a single outgroup. The hardest sites are those fixed for the derived allele within the ingroup, which carry no within-ingroup signal and so need several sufficiently deep outgroups to recover, yet these are also highly informative downstream, carrying the high-frequency divergence signal on which selection and adaptation analyses often depend. Ancestree is available at github.com/Sendrowski/Ancestree.

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BibTeX
@misc{sendrowski2026ancestree,
  title = {{Ancestree: unified likelihood inference of ancestral alleles under supplied or inferred genealogies}},
  author = {J. Sendrowski and T. Bataillon},
  howpublished = {bioRxiv},
  year = {2026},
  month = sep,
  doi = {10.64898/2026.09.11.750934},
  url = {https://www.biorxiv.org/content/10.64898/2026.09.11.750934v1},
  note = {CC BY},
}
RIS
TY  - UNPB
TI  - Ancestree: unified likelihood inference of ancestral alleles under supplied or inferred genealogies
AU  - J. Sendrowski
AU  - T. Bataillon
PY  - 2026
DA  - 2026/09/11
PB  - bioRxiv
DO  - 10.64898/2026.09.11.750934
UR  - https://www.biorxiv.org/content/10.64898/2026.09.11.750934v1
AB  - Inferring ancestral states--determining, at each polymorphic site, which allele is ancestral and which derived--underpins many downstream population-genetic analyses, from selection scans and the unfolded site-frequency spectrum to demographic inference. However, no existing tool uniformly supports the full range of relevant inputs: plain variant data or ancestral recombination graphs (ARGs), with or without outgroups, while accommodating poly-allelic and recurrently-mutated sites. Here we present Ancestree, a likelihood-based engine that unifies these inputs within a single framework and returns full posteriors over the four nucleotide states at every site. It runs in three modes: a fixed-tree mode that assumes a single topology across sites and co-infers the per-branch substitution rates by maximum likelihood; an ARG mode that reads a different local tree at each site directly from a supplied ancestral recombination graph; and a local-tree mode that instead samples those local trees from the genotype data via a pairwise-coalescent HMM, needing no pre-existing ARG. On simulated data, the genealogy-based modes (ARG and local-tree) are more accurate and scale better, and remain robust under outgroup configurations that violate the fixed-tree assumption. Outgroups themselves remain difficult to replace: per-site inference accuracy on ingroup-polymorphic sites is markedly limited without them, and improves substantially with a single outgroup. The hardest sites are those fixed for the derived allele within the ingroup, which carry no within-ingroup signal and so need several sufficiently deep outgroups to recover, yet these are also highly informative downstream, carrying the high-frequency divergence signal on which selection and adaptation analyses often depend. Ancestree is available at github.com/Sendrowski/Ancestree.
ER  -