Comparison of target enrichment strategies for ancient pathogen DNA

In ancient DNA research, the degraded nature of the samples generally results in poor yields of highly fragmented DNA; targeted DNA enrichment is thus required to maximize research outcomes. The three commonly used methods ? array-based hybridization capture and in-solution capture using either RNA or DNA baits ? have different characteristics that may influence the capture efficiency, specificity and reproducibility. Here we compare their performance in enriching pathogen DNA of Mycobacterium leprae and Treponema pallidum from 11 ancient and 19 modern samples. We find that in-solution approaches are the most effective method in ancient and modern samples of both pathogens and that RNA baits usually perform better than DNA baits

Ancient DNA reveals admixture history and endogamy in the prehistoric Aegean (advance online)

The Neolithic and Bronze Ages were highly transformative periods forthe genetic history of Europe but for the Aegean—a region fundamentalto Europe’s prehistory—the biological dimensions of cultural transitionshave been elucidated only to a limited extent so far. We have analysed newlygenerated genome-wide data from 102 ancient individuals from Crete, theGreek mainland and the Aegean Islands, spanning from the Neolithic tothe Iron Age. We found that the early farmers from Crete shared the sameancestry as other contemporaneous Neolithic Aegeans. In contrast, the endof the Neolithic period and the following Early Bronze Age were marked by‘eastern’ gene flow, which was predominantly of Anatolian origin in Crete.Confirming previous findings for additional Central/Eastern Europeanancestry in the Greek mainland by the Middle Bronze Age, we additionallyshow that such genetic signatures appeared in Crete gradually from theseventeenth to twelfth centuries bc, a period when the influence of themainland over the island intensified. Biological and cultural connectednesswithin the Aegean is also supported by the finding of consanguineousendogamy practiced at high frequencies, unprecedented in the globalancient DNA record. Our results highlight the potential of archaeogenomicapproaches in the Aegean for unravelling the interplay of genetic admixture,marital and other cultural practice

Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia

The island of Sardinia has been of particular interest to geneticists for decades. The current model for Sardinia's genetic history describes the island as harboring a founder population that was established largely from the Neolithic peoples of southern Europe and remained isolated from later Bronze Age expansions on the mainland. To evaluate this model, we generate genome-wide ancient DNA data for 70 individuals from 21 Sardinian archaeological sites spanning the Middle Neolithic through the Medieval period. The earliest individuals show a strong affinity to western Mediterranean Neolithic populations, followed by an extended period of genetic continuity on the island through the Nuragic period (second millennium BCE). Beginning with individuals from Phoenician/Punic sites (first millennium BCE), we observe spatially-varying signals of admixture with sources principally from the eastern and northern Mediterranean. Overall, our analysis sheds light on the genetic history of Sardinia, revealing how relationships to mainland populations shifted over time.Joseph H. Marcus ... Wolfgang Haak ... et al

Rationale for the treatment of children with CCSK in the UMBRELLA SIOP-RTSG 2016 protocol

The International Society of Paediatric Oncology-Renal Tumour Study Group (SIOP-RTSG) has developed a new protocol for the diagnosis, treatment, and follow-up monitoring of childhood renal tumours-the UMBRELLA SIOP-RTSG 2016 protocol (the UMBRELLA protocol). This protocol has been designed to continue international collaboration in the treatment of childhood renal tumours and will be implemented in over 50 different countries. Clear cell sarcoma of the kidney, which is a rare paediatric renal tumour that most commonly occurs in childre