Inferring domestic goat demographic history through ancient genome imputation
Jolijn A. M. ErveniD, Alice EtourneauiD, Marjan MashkouriD, Mahesh NeupaneiD, Philippe BardouiD, Alessandra StellaiD, Andrea TalentiiD, Clet Wandui MasigaiD, Curtis P. Van TasselliD, Emily L. ClarkiD, François PompanoniD, Licia ColliiD, Marcel AmillsiD, Marco MilanesiiD, Paola CrepaldiiD, Bertrand ServiniD, Benjamin D. RoseniD, Gwenola Tosser‐KloppiD, Kevin G. DalyiD
Abstract
Goats were among the earliest managed animals, making them a natural model to explore the genetic consequences of domestication. However, a challenge in ancient genomic analysis is the relatively low genome coverage for most samples, limiting analysis to pseudohaploid genotypes. Genotype imputation offers potential to alleviate this limitation by improving information content and accuracy in low coverage genomes. To test this we used published high coverage (>8x) goat palaeogenomes, imputing downsampled genomes using the VarGoats dataset (1,372 individuals) as a reference panel. Measuring concordance between imputed and high coverage genotypes, we find high concordance after filtering for common (>5%), high confidence variants, with 0.5x genomes reaching >0.97 concordance. There is a trade-off between coverage, genotype probability (GP) thresholds, and genotype recovery, where higher coverage and more lenient GP thresholds result in higher recovery, and a reduction in heterozygous false-positive rates with stricter thresholds. We then imputed 36 goat palaeogenomes with [≥]0.5x coverage to examine runs-of-homozygosity (ROH) and identity-by-descent (IBD) patterns. Using a novel approach combining ROH profiles across tools, we find that among Neolithic goats, ROH increases with distance from the Zagros Mountains, suggesting a large effect of the initial dispersal of managed herds. Inbreeding levels decrease across Southwest Asia in more recent periods. IBD mirrored this pattern, with less relatedness in the early herding site of Ganj Dareh compared to higher relatedness in goats from later in the dispersal process. These findings provide insights into the genetic consequences of early goat management on demography, and confirm the utility of imputation in leveraging low coverage palaeogenomes. SignificancePaleogenomics offers crucial insight into how animals were domesticated, but poor DNA preservation in ancient remains often limits the reach of genetic analyses. We utilise a cutting-edge technique, genotype imputation, to recover missing genetic information from ancient low coverage goat genomes and shine light on their domestication process. Early domestic goats showed low overall runs-of-homozygosity (ROH) and relatedness. We find that during the Neolithic, runs-of-homozygosity (ROH) and relatedness among goats increased, likely a consequence of the movement of herds beyond their natural range by humans. Inbreeding levels decline in more recent periods, potentially due to expanded herd sizes, animal trade networks, or improved husbandry practices. These findings challenge long-standing assumptions about domestication bottlenecks and highlight how ancient DNA can be used to uncover complex evolutionary histories, even from low coverage ancient samples.
02 /Specification & Classification
Click any tag to browse matching papers- Citations
- 4
- FWCI
- 2.34
- Field percentile
- top 11%
- Assay
- Research Focus
- Approach
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- A high coverage Mesolithic aurochs genome and effective leveraging of ancient cattle genomes using whole genome imputation.
Jolijn A. M. Erven, Amelie Scheu, … Victoria E. Mullin·Molecular Biology and EvolutionPeer-reviewed·Apr 23, 2024
- Imputation of ancient canid genomes reveals inbreeding history over the past 10,000 years
Katia Bougiouri, Sabhrina Gita Aninta, … Fernando Racimo·Proceedings of the National Academy of SciencesPeer-reviewed·Nov 24, 2025
- Imputation of ancient genomes
Bárbara Sousa da Mota, Simone Rubinacci, … Olivier Delaneau·bioRxiv·Jul 19, 2022
- Old Goats: 3,000 years of genetic connectivity of the domestic goat in Ireland
Judith Findlater, Jolijn A. M. Erven, … Kevin G. Daly·Journal of Archaeological SciencePeer-reviewed·Feb 19, 2026
- The origin of domestication genes in goats
Zhuqing Zheng, Xihong Wang, … Yu Jiang·Science AdvancesPeer-reviewed·May 20, 2020
- Facilitated introgression from domestic goat into Alpine ibex at immune loci
Xenia Muenger, Mathieu Robin, … Christine Grossen·Molecular EcologyPeer-reviewed·Jun 7, 2024