Fault-tolerant pedigree reconstruction from pairwise kinship relations.
Huang Edward C, EC Li, Kevin A KA et al.
Publication Details
Comprehensive information about this research publication
Abstract
Summary of the research findings
Pedigrees reconstructed from biologically related ancient genomes have revealed many insights into (pre)history. To our knowledge, all reported ancient pedigrees have been primarily manually reconstructed, as existing pedigree reconstruction methods are ill-suited for the quality and nature of ancient DNA data.We introduce repare, an open-source software method to automatically reconstruct pedigrees from inferred pairwise kinship relations, which are readily obtainable from ancient genomes. This method reconstructs pedigrees by iteratively incorporating pairwise kinship relations into a set of candidate pedigrees, with pruning and sampling to reduce its search space. It optionally considers supporting information such as haplogroups and skeletal age-at-death estimates. We evaluate this method on a variety of simulated pedigrees with varying error rates and missingness. We also use this method to reconstruct several published pedigrees that were originally manually reconstructed; for one, we present a potential alternative topology. repare optionally incorporates user-inferred pedigree constraints, enabling "human-in-the-loop" reconstruction workflows. Especially when used with these user-inferred constraints, we find that repare represents a powerful and flexible tool for ancient pedigree reconstruction.repare is freely available at https://github.com/ehuangc/repare. In addition, source code, benchmark scripts, and benchmark results used in this work are archived at https://doi.org/10.5281/zenodo.19716772.Supplementary data are available at Bioinformatics online.
AI-Generated Summary
AI-generated by DNAGENICSIndependent AI summary of ancestry and genetic findings from the published study
Important: This summary is AI-generated by DNAGENICS for informational purposes only. It was not created by, affiliated with, or endorsed by the researchers behind the original publication, and is based solely on that published research. It may contain errors or omissions. DNAGENICS disclaims all liability for any inaccuracies or consequences arising from use of this information. Verify all information against the original publication. This is not professional scientific review or medical advice.