The first keynote of the ELIXIR All Hands presents Janet Kelso, Vice-chair of ELIXIR Scientific Advisory Board from the Max Planck Institute for Evolutionary Anthropology, Germany.
Recent technological advances have made it possible to recover genome sequences from a number of archaic and early modern humans. These genomes offer a unique opportunity to explore the population histories of modern and archaic human groups and have provided direct evidence for interbreeding between early modern and archaic humans.
As a result, all present-day people outside of Africa carry approximately 2% Neandertal DNA, and some populations, largely in Oceania, also carry DNA from Denisovans. This introgressed DNA has been shown to have both positive and negative outcomes for present-day carriers: underlying apparently adaptive phenotypes as well as influencing disease risk.
In recent work, we have identified Neandertal haplotypes that are likely of archaic origin and determined the likely functional consequences of these haplotypes using public genome, gene expression, and phenotype datasets. We have also used simulations, as well as the distribution of Neandertal DNA in ancient modern humans, to understand how selection has acted on Neandertal introgressed sequences over the last 45,000 years.