ArticleCommunications biology2024
Detection of chromosomal aneuploidy in ancient genomes.
Article in Communications biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Article
- Equal in death: Ancient genomic analysis of children's early Christian burials.Science advances · 2026Article
- ChASM: a statistically rigorous method for the detection of chromosomal aneuploidies in ancient DNA studies.Bioinformatics (Oxford, England) · 2026Article
- The Genomic Legacy of the Norman Conquest in Rural England.bioRxiv : the preprint server for biology · 2026Article
- A large mass grave from the Early Iron Age indicates selective violence towards women and children in the Carpathian Basin.Nature human behaviour · 2026Article
- Genetic affinities between the ancient Greek colony of Amvrakia and its metropolis.Genome biology · 2026Article
- Cosmopolitanism in the depths of Barbaricum evidenced by archaeogenomic data from the Late Iron Age Goth community of the Masłomęcz group.Genome biology · 2026Article
- Documentation of biological sex and gender in missing person investigations.Forensic science international. Synergy · 2025Article
- Ancient DNA and biomarkers from artefacts: insights into technology and cultural practices in Neolithic Europe.Proceedings. Biological sciences · 2025Article
- Bioarcheological Perspectives on the Timing of Adolescence in Rural Avar-Age Austria, 7th-9th Centuries ce.American journal of biological anthropology · 2025Article
- Genomic and morphological analysis reveals long-term mammoth hybridization in British Columbia, Canada.Biology letters · 2025Article
- Genetic history of Scythia.Science advances · 2025Article
- Urbanization and genetic homogenization in the medieval Low Countries revealed through a ten-century paleogenomic study of the city of Sint-Truiden.Genome biology · 2025Article
- The cranium from the Octagon in Ephesos.Scientific reports · 2025Article
- The Digital Atlas of Ancient Rare Diseases (DAARD) and its relevance for current research.Orphanet journal of rare diseases · 2024Article
- Article
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Authors and funding
31 authors at 7 institutions in 2 countries.
Funding
Abstract
Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits.
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