Imputation of ancient human genomes

B Sousa da Mota, S Rubinacci, DI Cruz Dávalos… - Nature …, 2023 - nature.com
Due to postmortem DNA degradation and microbial colonization, most ancient genomes
have low depth of coverage, hindering genotype calling. Genotype imputation can improve …

[HTML][HTML] Inferring signatures of positive selection in whole-genome sequencing data: an overview of haplotype-based methods

P Abondio, E Cilli, D Luiselli - Genes, 2022 - mdpi.com
Signatures of positive selection in the genome are a characteristic mark of adaptation that
can reveal an ongoing, recent, or ancient response to environmental change throughout the …

Quantitative human paleogenetics: what can ancient DNA tell us about complex trait evolution?

EK Irving-Pease, R Muktupavela, M Dannemann… - Frontiers in …, 2021 - frontiersin.org
Genetic association data from national biobanks and large-scale association studies have
provided new prospects for understanding the genetic evolution of complex traits and …

[HTML][HTML] Computational analysis of human skeletal remains in ancient DNA and forensic genetics

A Childebayeva, EI Zavala - Iscience, 2023 - cell.com
Degraded DNA is used to answer questions in the fields of ancient DNA (aDNA) and
forensic genetics. While aDNA studies typically center around human evolution and past …

Imputed genomes of historical horses provide insights into modern breeding

ET Todd, A Fromentier, R Sutcliffe, YRH Collin… - Iscience, 2023 - cell.com
Historical genomes can provide important insights into recent genomic changes in horses,
especially the development of modern breeds. In this study, we characterized 8.7 million …

hapCon: estimating contamination of ancient genomes by copying from reference haplotypes

Y Huang, H Ringbauer - Bioinformatics, 2022 - academic.oup.com
Abstract Motivation Human ancient DNA (aDNA) studies have surged in recent years,
revolutionizing the study of the human past. Typically, aDNA is preserved poorly, making …

Pre-processing of paleogenomes: Mitigating reference bias and postmortem damage in ancient genome data

D Koptekin, E Yapar, KB Vural, E Sağlıcan, NE Altınışık… - Genome biology, 2025 - Springer
We investigate alternative strategies against reference bias and postmortem damage in low
coverage paleogenomes. Compared to alignment to the linear reference genome, we show …

Assessing the impact of post-mortem damage and contamination on imputation performance in ancient DNA

A Garrido Marques, S Rubinacci, AS Malaspinas… - Scientific reports, 2024 - nature.com
Low-coverage imputation is becoming ever more present in ancient DNA (aDNA) studies.
Imputation pipelines commonly used for present-day genomes have been shown to yield …

Predicting functional consequences of recent natural selection in Britain

L Poyraz, LL Colbran, I Mathieson - Molecular Biology and …, 2024 - academic.oup.com
Ancient DNA can directly reveal the contribution of natural selection to human genomic
variation. However, while the analysis of ancient DNA has been successful at identifying …

Achieving improved accuracy for imputation of ancient DNA

K Ausmees, C Nettelblad - Bioinformatics, 2023 - academic.oup.com
Motivation Genotype imputation has the potential to increase the amount of information that
can be gained from the often limited biological material available in ancient samples. As …