An individual with Sarmatian-related ancestry in Roman Britain.

In the second century CE the Roman Empire had increasing contact with Sarmatians, nomadic Iranian speakers occupying an area stretching from the Pontic-Caspian steppe to the Carpathian mountains, both in the Caucasus and in the Danubian borders of the empire.1,2,3 In 175 CE, following their defeat in the Marcomannic Wars, emperor Marcus Aurelius drafted Sarmatian cavalry into Roman legions and deployed 5,500 Sarmatian soldiers to Britain, as recorded by contemporary historian Cassius Dio.4,5 Little is known about where the Sarmatian cavalry were stationed, and no individuals connected with this historically attested event have been identified to date, leaving its impact on Britain largely unknown. Here we document Caucasus- and Sarmatian-related ancestry in the whole genome of a Roman-period individual (126-228 calibrated [cal.] CE)-an outlier without traceable ancestry related to local populations in Britain-recovered from a farmstead site in present-day Cambridgeshire, UK. Stable isotopes support a life history of mobility during childhood. Although several scenarios are possible, the historical deployment of Sarmatians to Britain provides a parsimonious explanation for this individual's extraordinary life history. Regardless of the factors behind his migrations, these results highlight how long-range mobility facilitated by the Roman Empire impacted provincial locations outside of urban centers

Additional file 2: of A genetic chronology for the Indian Subcontinent points to heavily sex-biased dispersals

Phylogenetic tree of South Asian mtDNA haplogroups. (XLSX 664 kb

Additional file 1: Figure S1. of A genetic chronology for the Indian Subcontinent points to heavily sex-biased dispersals

BSP for haplogroup M in different regions of the Subcontinent: (a) West, (b) South, (c) Central and (d) East South Asia. Figure S2. Putative origin and age ranges (95% confidence interval) for non-autochthonous mtDNA lineages found in South Asia. The colours represent the most likely source for each lineage; branches exclusively with South Asian complete sequences coloured in green, whereas branches that also harbour sequences from other regions in white and with green contour. Ages according to ML estimates. Figure S3. ADMIXTURE analysis for all K values. Information on the populations included in Additional file 1: Table S3. Figure S4. sNMF analysis of modern populations for all K values. Information on the populations included in Additional file 1: Table S3. Figure S5. Cross-validation errors for different values of K for ADMIXTURE: (a) considering only modern populations and (b) including the Yamnaya in the analysis. Figure S6. ADMIXTURE analysis including the Yamnaya for all K values. Information on the populations included in Additional file 1: Table S3. Figure S7. PCA (for PC1 and PC3) of modern populations. Detailed information on the populations included in Additional file 1: Table S3. Figure S8. PCA (for PC1 and PC2) including the Yamnaya. Information on the populations included in Additional file 1: Table S3. Table S1. List of complete mtDNA sequences belonging to South Asian autochthonous haplogroups. Table S2. List of non-autochthonous complete modern mtDNA sequences used in our analyses. Table S3. Dataset used for the GW analyses. (a) Modern dataset. Populations marked with three asterisks (***) were added to the dataset exclusively for ADMIXTURE and sNMF runs, thereby being absent from the PCA. Table S4. Putative origin for the uniparental lineages found in the 1KGP South Asian populations. (PDF 7577 kb

Detection of chromosomal aneuploidy in ancient genomes.

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