Fast and reliable ancestral reconstruction on ancient genotype data with non-negative Least square and Principal Component Analysis
Luciana de GennaroiD, Ludovica MolinaroiD, Alessandro RaveaneiD, Federica SantonastasoiD, Sandro Sublimi SaponettiiD, Michela Carlotta MassiiD, Luca PaganiiD, Mait MetspaluiD, Garrett HellenthaliD, Toomas KivisildiD, Mario VenturaiD, Francesco MontinaroiD
Abstract
The history of human populations has been strongly shaped by admixture events, contributing to the patterns of observed genetic diversity across populations. Given its significance for evolutionary and medical studies, many algorithms focusing on the inference of the genetic composition of admixed populations have been developed. In particular, the recent development of new ancestry estimation methods that consider the fragmentary nature of ancient genotype data, such as the f-statistics family and its derivations, have radically changed our understanding of the past. F-statistics capture similar genetic similarity information as Principal Component Analysis (PCA), which is widely used in population genetics to quantify genetic affinity between populations or individuals. In this study, we introduce ASAP (ASsessing ancestry proportions through Principal component Analysis) method that leverages PCA and Non-Negative Least Square (NNLS) to assess the ancestral compositions of admixed individuals given a large set of populations. We tested ASAP on different simulated models, incorporating high levels of missingness. Our results show its ability to reliably estimate ancestry across numerous scenarios, even those with a significant proportion of missing genotypes, in a fraction of the time required when using other tools. When harnessed on Eurasias genotype data, ASAP helped replicate and extend findings from previous studies proving to be a fast, efficient, and straightforward new ancestry estimation tool.
02 /Specification & Classification
Click any tag to browse matching papers- Citations
- 1
- Organism
- 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
- Inferring the ancestry of parents and grandparents from genetic data
Jingwen Pei, Yiming Zhang, … Yufeng Wu·PLoS Computational BiologyPeer-reviewed·Aug 14, 2020
- A joint framework for studying population structure using principal component analysis and F-statistics
Divyaratan Popli, Benjamin Marco Peter·bioRxiv·Sep 25, 2024
- Ancestry inference and grouping from principal component analysis of genetic data
F. Prive·bioRxiv·Oct 6, 2020
- Testing Times: Challenges in Disentangling Admixture Histories in Recent and Complex Demographies
Matthew P. Williams, Pavel Flegontov, … Christian D. Huber·GeneticsPeer-reviewed·Jul 16, 2024
- Faster model-based estimation of ancestry proportions
Cindy G. Santander, Alba Refoyo-Martínez, Jonas Meisner·Peer Community JournalPeer-reviewed·Dec 12, 2024
- Evaluation of population structure inferred by principal component analysis or the admixture model
Jan van Waaij, Song Li, … Carsten Wiuf·GeneticsPeer-reviewed·Aug 23, 2023