Human history through complete genomes

SNIC 2019/3-12


SNIC Medium Compute

Principal Investigator:

Mattias Jakobsson


Uppsala universitet

Start Date:


End Date:


Primary Classification:

10610: Bioinformatics and Systems Biology (methods development to be 10203)

Secondary Classification:

10609: Genetics (medical to be 30107 and agricultural to be 40402)



Human evolutionary history is the result of a complex process that includes population expansions, migration events and colonization of new geographic regions. Information about these historical demographic events is retained in the patterns of genetic variation that can be observed in extant humans. The key to unlock this information lies in complete genomes. The process by which modern humans arose has been the subject of much debate. The last 500,000 years of human evolutionary history has only been described as a rough sequence of events based on findings in the paleontological, archaeological and molecular genetic fields. The colonization of the globe through the ‘Out of Africa’ model, is generally accepted by most researchers. Despite the pivotal role that Africa has played in the evolution of humankind and main residence of Homo sapiens for most of its existence, the history and population dynamics within the continent remain poorly understood. We are investigating patterns of human genetic variation across the world based on complete genomes, and in particular focusing on various agriculturist, herding and hunter-gatherer groups to learn about recent movements of people and more ancient demographic processes. By generating complete genomes from diverse populations combined with statistical and computational approaches, we investigate both recent and ancient human demographic and evolutionary history.