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At least 19 recordsLinked to original sources
PubMed2026

De novo assembly and authentication of ancient DNA metagenomes with nf-core/mag.

Ancient DNA provides a direct window into the evolutionary processes that have shaped living microbial species today, as well as their now extinct relatives. Advances in both sequencing methods and de novo assembly techniques have not only resulted in a flood of modern metagenomic sequencing data, but they have also allowed palaeogenomicists to retrieve vast amounts of ancient DNA from past microorganisms, including species and strains without modern reference genomes. However, the degraded nature of ancient DNA means that the standard techniques of genome assembly developed for modern DNA are unlikely to perform effectively, unless heavily modified. This hinders the incorporation of ancient data into broader metagenomic studies that would otherwise benefit from having deep time information on the evolution of different microbial species. In this primer and protocol paper, we provide guidance on ways to adapt existing metagenomic de novo assembly processes, including data input, tools, and settings, in order to perform more robustly and effectively on ancient DNA. After assembly, we then further describe how ancient DNA contigs can be identified and validated. The key steps of ancient metagenomic assembly are now integrated in a dedicated ancient DNA mode in the established pipeline nf-core/mag. By introducing support for ancient DNA data in nf-core/mag, we aim to improve the ability of researchers to more regularly integrate de novo assembled ancient microbial data into broader metagenomics studies of microbial ecology and evolution.

DNA, Ancient↗
PubMed2026

Ancient DNA and Human Physiology.

Ancient DNA (aDNA) enables the reconstruction of chronologically sampled genomes from ancient humans, animals, plants, pathogens, and microorganisms, as well as environmental DNA, providing a record of biological changes through time. Improvements in short and degraded DNA extraction methods and low-cost sequencing now enable the generation of broad, cross-regional datasets that expand evolutionary analyses from past population demography to biological mechanisms. By tracking temporal shifts of allele frequencies, integrating functional genomics resources (e.g., gene expression, chromatin structure variation), modeling population demography to separate selection from genetic drift, and aligning genetic changes with archaeological, cultural, and climatic data, aDNA has the potential to link sequence variation to physiological function within their temporal and environmental contexts. In this review, we summarize illustrative case studies from aDNA research spanning complex traits, dietary adaptations, and responses to pathogens and other environmental changes, showing how human biology has evolved under multiple selective pressures through time. These dated signals help triage experimental work and expose mechanisms that are rare or absent in living cohorts. Although some challenges remain, such as geographic and temporal sampling disparities, limitations in data resolution and variant detection, and genotype-phenotype uncertainties, rapid methodological progress and stronger ethical frameworks are expanding what can be inferred, making aDNA a promising tool for refining physiological pathways, their timing, and their drivers.

Humans↗
PubMed2026

Ancient DNA as a temporal lens: reconstructing evolution, migration, and disease dynamics.

Ancient DNA (aDNA) has transformed evolutionary biology and anthropology by providing direct, chronologically validated genetic evidence over millennia. This review synthesizes significant findings from the paleogenomic era (2010-2025), demonstrating how ancient DNA has resolved persistent debates across four interconnected themes: (i) human migration and admixture, revealing complex population transitions from archaic hominins to Holocene expansions; (ii) adaptation, tracking allele frequency changes during domestication and selection; (iii) pathogen history, clarifying the origins of pandemics and the evolution of microbiomes; and (iv) ecosystem dynamics, identifying extinction causes through sedimentary DNA and conservation genomics. We contend that scientific rigor and ethical stewardship are crucial for accurate conclusions, given ancient DNA study requires the destructive collection of culturally significant remains. This review argues that continued advancement will depend on the integration of genomic data with archaeological, isotopic, and proteomic evidence, and highlights the necessity for equitable involvement with descendant communities. By conceptualizing the past as a continuum of dynamic processes rather than static events, ancient DNA provides a revised historical narrative and insights relevant to contemporary concerns in conservation, health, and social justice.

Evolution↗
PubMed2026

Genomic history of the Caucasus: A systematic review and meta-analysis of ancient DNA studies.

The Caucasus region represents a unique natural laboratory for paleogenetic research due to its complex topography, long-standing role as a migratory corridor and glacial refugium, and exceptional preservation conditions for ancient DNA. This review synthesizes recent genome-wide studies to reconstruct the demographic history shaping the distinctive genetic landscape of modern Caucasus populations. The analysis reveals a deep pattern of continuity, isolation, and periodic admixture. Early genetic differentiation emerged in the Neolithic and Chalcolithic, forming distinct steppe and mountain population clusters. The Bronze Age was a pivotal period marked by large-scale gene flow from the Eurasian Steppe, particularly linked to the Yamnaya expansion, and interactions with Iranian and Anatolian-related groups. Despite these influences, many populations demonstrate remarkable genetic continuity from the Bronze Age to the present day. Significant knowledge gaps persist, particularly for the Paleolithic, Mesolithic, and Neolithic of the North Caucasus, as well as for the Late Medieval and Early Modern periods across the entire region. Addressing these gaps through targeted archaeogenomic studies is crucial for understanding the fine-scale processes that formed the hierarchical structure and high linguistic diversity of Caucasus populations, offering a powerful model for studying human adaptation, interaction, and language-genetics dynamics in a mountainous environment.

Humans↗
PubMed2026

Sedimentary Ancient DNA Tracks Multi-Kingdom Ecosystem Reorganizations Following Sequential Human Land Use at Crawford Lake.

Crawford Lake has an exceptional stratigraphic record that began recording biannual (varved) sedimentation in the lake basin ~750 years ago, preserving evidence of shifting cultural zones and agricultural practices, from Late Woodland Period Indigenous agriculturalists to the impacts of industrialization during the late 19th century. It was selected as the candidate site for the proposed 'Anthropocene' epoch in 2023-a proposal ultimately rejected in 2024-but the lake's significance extends beyond a formal stratigraphic boundary. Its sediments preserve a long record of human-ecosystem entanglement that captures the cumulative, reverberating nature of local human impacts and global change. While many proxies have been studied at the site, the lake's sedimentary ancient DNA (sedaDNA) record has yet to be investigated. Here, we report on sedaDNA preserved at Crawford Lake over the last ~1300 years. Sedentism and agriculture clearly impacted the entire lake ecosystem, with corresponding shifts observable in the sedaDNA of plants, animals, algae, fungi and bacteria. Canada goose (Branta canadensis) roosting on the lake-likely drawn by foraging opportunities in fields cleared for Three/Four Sisters agriculture and sedentism-contributed to repeated eutrophications and algal blooms that permanently shifted the lake's ecological structure. Subsequent impacts during the Euro-Canadian zone furthered anthropogenic succession, although local impacts have been minimal since closure of the sawmill in 1900 ce, allowing for sensitivity to global change. Beyond the molecular ecological history of the lake, we also evaluate the effectiveness of an Arctic/Subarctic bait-set for palaeoecological reconstructions of the Eastern Woodlands, and the preservation of lake sedaDNA.

Lakes↗
PubMed1992

PCR libraries of ancient DNA using a generalized PCR method.

We describe a generalized PCR method that will amplify fragments of DNA without any knowledge of sequence using a single primer. Although we are presently using this method to amplify DNA fragments isolated from ancient preserved tissues, in effect, producing PCR libraries, it may prove to have other applications.

Base Sequence↗
PubMed2026

Ancient DNA unveils distinctive ancestries in the Bronze and Iron Ages of East Tianshan.

The East Tianshan Mountains occupy a key corridor between Central and East Asia, but their population history remains poorly understood. Here we report genome-wide data from 135 ancient individuals from 11 archaeological sites. We identify a previously unrecognized Bronze Age admixture between populations related to Yellow River millet farmers and steppe pastoralists associated with the Chemurchek culture. In contrast, we find little genetic contribution from contemporaneous middle-to-late Bronze Age steppe pastoralists, despite their eastward expansion across the Eurasian Steppe. By the Iron Age, regional populations had become more heterogeneous, incorporating additional eastern and steppe-related sources while retaining variable contributions from Early Bronze Age groups. These results reveal sustained demographic interactions in eastern Central Asia nearly 1800 years preceding the establishment of the historic Silk Road.

DNA, Ancient↗
PubMed2026

Ancient DNA reveals early use of melons in China's Song dynasty.

Melon (Cucumis melo L.) domestication is thought to have occurred independently once in Northeast Africa and twice in India, but archaeobotanical seed remains point to a possible additional domestication event in China. Because Cucumis seeds are difficult to diagnose morphologically, genomic data from archaeological material are needed to evaluate these scenarios and reconstruct ancient melon traits. We sequenced two Song Dynasty (960-1279 CE) melon seeds from Shuomen Gugang (China), recovering 5.5× and 2.1× nuclear genome coverage. Nuclear and chloroplast analyses place both seeds within cultivated C. melo from China, within the "agrestis" East Asian gene pool. To assess whether these seeds carried traits associated with sweet dessert melons, we examined loci underlying fruit phenotypes. Neither seed carried alleles for orange flesh; one harbored an allele linked to yellow/orange peel, the other possessed alleles associated with green flesh and reduced acidity. Since wild melons are monoecious, the presence of the derived andromonoecy allele in one seed, associated with rounder fruit shape, suggests early selection on fruit morphology. Together, these findings indicate that Song Dynasty melons were likely consumed as fresh or culinary fruits rather than sweet dessert melons. Their flesh coloration resonates with Song-period aesthetic sensibilities, exemplified by jade-green celadon ceramics frequently crafted in melon-shaped forms. By anchoring East Asian archaeobotanical remains within modern melon genomic variation, this study provides a temporal framework for melon cultivation in China and shows how ancient genomics can illuminate past crop use.

China↗
PubMed1991

Amplification and analysis of Miocene plant fossil DNA.

Ancient DNA has been extracted and sequenced from several animal and plant specimens. Previous considerations of the damage to ancient DNA have suggested that both the age and size of DNA fragments that can be retrieved and sequenced may be limited, the former to between several thousand and at most tens of thousands of years old, and the latter to at most a few hundred bases. A recent report of a 770 base pair (b.p.) sequence from the chloroplast gene rbcL from a Miocene Magnolia latahensis leaf indicates that both estimated limitations may be too conservative. Further work has indicated that analysis of Miocene fossil DNA can be replicated, and can, therefore, open up the prospects for future development of the field of molecular palaeontology. Successful amplification of fossil DNA is sometimes confounded by factors inherent to fossil DNA or to samples with minimal amounts of target DNA. Techniques that alter denaturation, reduce inhibitors and the problem of contaminants, and repair DNA prior to polymerase chain reaction amplification can increase the probability of success.

Base Sequence↗
PubMed2025

Ancient DNA connects large-scale migration with the spread of Slavs.

The second half of the first millennium CE in Central and Eastern Europe was accompanied by fundamental cultural and political transformations. This period of change is commonly associated with the appearance of the Slavs, which is supported by textual evidence1,2 and coincides with the emergence of similar archaeological horizons3-6. However, so far there has been no consensus on whether this archaeological horizon spread by migration, Slavicisation or a combination of both. Genetic data remain sparse, especially owing to the widespread practice of cremation in the early phase of the Slavic settlement. Here we present genome-wide data from 555 ancient individuals, including 359 samples from Slavic contexts from as early as the seventh century CE. Our data demonstrate large-scale population movement from Eastern Europe during the sixth to eighth centuries, replacing more than 80% of the local gene pool in Eastern Germany, Poland and Croatia. Yet, we also show substantial regional heterogeneity as well as a lack of sex-biased admixture, indicating varying degrees of cultural assimilation of the autochthonous populations. Comparing archaeological and genetic evidence, we find that the change in ancestry in Eastern Germany coincided with a change in social organization, characterized by an intensification of inter- and intra-site genetic relatedness and patrilocality. On the European scale, it appears plausible that the changes in material culture and language between the sixth and eighth centuries were connected to these large-scale population movements.

DNA, Ancient↗
PubMed1991

Analysis of ancient bone DNA: techniques and applications.

The analysis of DNA from ancient bone has numerous applications in archaeology and molecular evolution. Significant amounts of genetic information can be recovered from ancient bone: mitochondrial DNA sequences of 800 base pairs have been amplified from a 750-year-old human femur by using the polymerase chain reaction. DNA recovery varies considerably between bone samples and is not dependent on the age of the specimen. We present the results of a study on a small number of bones from a mediaeval and a 17th-century cemetery in Abingdon showing the relation between gross preservation, microscopic preservation and DNA recovery.

Bone and Bones↗
PubMed2026

Paleogenomic sex inference of mammoth remains sheds light on the anthropogenic nature of bone accumulations.

Whether large accumulations of woolly mammoth (Mammuthus primigenius) bones reflect natural mortality or deliberate human resource exploitation has long been debated, with major implications for understanding Late Pleistocene human-megafaunal interactions.1,2,3,4,5 Here, we use ancient DNA to investigate site-formation hypotheses by comparing genetic sex ratios from mammoth remains recovered in putative anthropogenic bone accumulations and from geographically dispersed, non-anthropogenic contexts. We studied genome-wide data from 521 woolly mammoths-including 100 mammoths from bone accumulation sites and 421 mammoths from natural depositional settings across Eurasia and North America-of which 448 are newly generated. Genetic sex determination reveals a striking contrast between contexts: mammoths from dispersed sites show a male bias (∼66.5%), which is consistent with the heightened vulnerability of solitary males to hazards such as natural traps, where bones are more likely to be preserved, whereas mammoths from anthropogenic bone accumulations are predominantly female (∼70%). This female bias is pervasive across multiple sites, indicating an anthropogenic origin for these accumulations as a result of Upper Paleolithic hunters preferentially exploiting female mammoths, possibly derived from herd contexts. Together, these results provide population-scale genetic evidence that highlights the central role of mammoths in the subsistence and material economies of some Paleolithic communities.

Animals↗
PubMed2026

MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes.

The advent of efficient and accurate imputation for low-coverage sequencing offers an unbiased alternative to SNP array imputation, increasing the accuracy of rare variant imputation across all populations. Since imputation accuracy generally increases with larger reference panels and closer ancestry match between target and reference samples, leveraging imputation from multiple reference panels improves imputation accuracy; however, individual reference panel genotypes are often privacy protected. Meta-imputation bypasses individual-level data by combining single-panel imputed genotypes through estimating panel- and marker-specific weights. We present a meta-imputation method, MetaGLIMPSE, that combines estimates from multiple reference panels for low-coverage sequencing imputation. Across all our scenarios, for both modern and ancient DNA samples, MetaGLIMPSE consistently outperforms the best single-panel imputation for coverages of 0.1×-8× and across all minor-allele frequencies, equaling the combined panel imputation for some parameters. Finally, MetaGLIMPSE is computationally efficient, meta-imputing 500 whole genomes in 16% of the time of GLIMPSE2.

Humans↗
PubMed2026

Target Capture of Ancient Shell DNA Enables Phylogenetic Reconstruction of Deep-Sea Molluscs.

Target capture is widely used to enrich endogenous DNA from calcium phosphate skeletal material in vertebrates, but its performance on calcium carbonate hard parts widely produced by invertebrates remains poorly understood. Here, we compared DNA recovery from four fresh and 12 ancient (eight radiocarbon-dated to 1671-1135&#x2009;years old before present) deep-sea vesicomyid clam shells, including species Archivesica marissinica, A. nanshaensis and A. okutanii, using whole-genome sequencing (WGS) or target capture of ultraconserved elements (UCEs). WGS achieved 16.65% on-target read recovery of UCEs from fresh soft tissue, but <&#x2009;1% from shell specimens. By contrast, UCE capture in the same specimen increased on-target reads by up to 155-fold, reaching 29.84% in fresh shells and up to 72-fold, reaching 19.89% in ancient shells. Target capture of UCEs recovered 142-1001 loci per sample compared to 0-230 with WGS alone. Ancient shells of A. marissinica and A. okutanii, based on reads mapped with bwa-mem2 and bbmap, exhibited characteristic post-mortem DNA damage signals, with average 5'-end C-to-T misincorporation rates of 3.46% and 15.97%, respectively, exceeding the levels observed in fresh A. marissinica shells (maximum 1.24%). UCE-based phylogenetic reconstructions incorporating shell ancient DNA recovered two major clades within Pliocardiinae, consistent with published phylogenomic trees. Together, these findings demonstrate that target-capture enrichment enables effective recovery of highly degraded DNA from ancient mollusc shells and supports robust phylogenetic inference at the intrageneric scale, expanding the utility of shells-one of the most abundant invertebrate remains-for evolutionary, biogeographic and conservation studies.

Animals↗
PubMed2025

clusIBD: Robust Detection of Identity-by-descent Segments Using Unphased Genetic Data from Poor-quality Samples.

The detection of identity-by-descent (IBD) segments is widely used to infer relatedness in many fields, including forensics and ancient DNA analysis. However, existing methods are often ineffective for poor-quality DNA samples. Here, we propose a method, clusIBD, which can robustly detect IBD segments using unphased genetic data with a high rate of genotyping error. We evaluated and compared the performance of clusIBD with that of IBIS, TRUFFLE, and IBDseq using simulated data, artificial poor-quality materials, and ancient DNA samples. The results show that clusIBD outperforms these existing tools and could be used for kinship inference in fields such as ancient DNA analysis and criminal investigation. clusIBD is publicly available at GitHub (https://github.com/Ryan620/clusIBD/) and BioCode (https://ngdc.cncb.ac.cn/biocode/tool/BT007882).

Humans↗
PubMed2025

AdDeam: a fast and scalable tool for estimating and clustering reference-level damage profiles.

MOTIVATION: DNA damage patterns, such as increased frequencies of C&#x2192;T and G&#x2192;A substitutions at fragment ends, are widely used in ancient DNA studies to assess authenticity and detect contamination. In metagenomic studies, fragments can be mapped against multiple references or de novo assembled contigs to identify those likely to be ancient. Generating and comparing damage profiles, however, can be both tedious and time-consuming. Although tools exist for estimating damage in single reference genomes and metagenomic datasets, none efficiently cluster damage patterns. RESULTS: To address this methodological gap, we developed AdDeam, a tool that combines rapid damage estimation with clustering for streamlined analyses and easy identification of potential contaminants or outliers. Our tool takes aligned ancient DNA (aDNA) fragments from various samples or contigs as input, computes damage patterns, clusters them, and outputs representative damage profiles per cluster, a probability of each sample pertaining to a cluster, as well as a Principal Component Analysis of the damage patterns for each sample for fast visualisation. We evaluated AdDeam on both simulated and empirical datasets. AdDeam effectively distinguishes different damage levels, such as uracil-DNA glycosylase-treated samples, sample-specific damages from specimens of different time periods, and can also distinguish between contigs containing modern or ancient fragments, providing a clear framework for aDNA authentication and facilitating large-scale analyses. AVAILABILITY AND IMPLEMENTATION: AdDeam is publicly available at https://github.com/LouisPwr/AdDeam and can also be installed via Bioconda. It is implemented in Python and C++. All analysis scripts and datasets are available at https://github.com/LouisPwr/AdDeamAnalysis and on Zenodo under: 10.5281/zenodo.15052427.

Software↗
PubMed2026

sedimix: a workflow for the analysis of hominin nuclear DNA sequences from sediments.

SUMMARY: Sediment DNA-the recovery of genetic material from archaeological sediments-is an exciting new frontier in ancient DNA research, offering the potential to study individuals at a given archaeological site without destructive sampling. In recent years, several studies have demonstrated the promise of this approach by extracting hominin DNA from prehistoric sediments, including those dating back to the Middle or Late Pleistocene. However, a lack of open-source workflows for analysis of hominin sediment DNA samples poses a challenge for data processing and reproducibility of findings across studies. Here, we introduce a snakemake workflow, sedimix, for processing genomic sequences from archaeological sediment DNA samples to identify hominin sequences and generate relevant summary statistics to assess the reliability of the pipeline. By performing simulations and comparing our results to two published studies with human DNA from &#x223c;25,000&#x2009;years ago (including shotgun data from a sediment sample and capture data from touch DNA recovered from a deer tooth pendant) we demonstrate that sedimix yields accurate and reliable inferences. sedimix offers a reliable and adaptable framework to aid in the analysis of sediment DNA datasets and improve reproducibility across studies. AVAILABILITY AND IMPLEMENTATION: sedimix is available as an open-source software with the associated code, example data, and user manual with installation instructions available at https://github.com/jierui-cell/sedimix. A permanent archived version of this release is available via Zenodo: https://doi.org/10.5281/zenodo.17244854.

Animals↗