Origins and architecture of human genomic variation

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Early 20th century mapping of genes in model organisms allowed us to understand the nature of heredity. During last two decades we turned to genetic mapping and sequencing of our genome. In this way we started learning about its structure and its population variability hoping to gain knowledge about genetic bases of human traits, to preserve our health and avoid disease. Our project continues this effort. It is about studying, understanding and explaining patterns of genetic variation among human populations. Such investigations provide basic tools and ingredients to study simple and complex genetic traits. Yet such practical outcomes cannot be realized without the basic knowledge on the organization and the function of our genetic program and on the architecture and sources of genomic variation. We start from the beginning, addressing many unanswered questions related to the origins of H. sapiens in Africa, its admixture with Neandertals and subsequent expansion to colonize the World. We develop new methods in order to learn about specific functional segments of our genome: some are responsible for the regulation of gene expression other carry signatures of human adaptations to changing environmental conditions. We also study genetic and evolutionary mechanisms that explain the way genetic information is organized. In our investigations we generate our own data using DNA samples we collected, but in the same time we also profit from rapidly growing publicly available human genetic diversity data. All these new results will advance our knowledge, leading to new conceptual and methodological developments in the analysis and understanding of the population variation. Our research program provides new training opportunities because of its multidisciplinarity becoming a breeding ground of new generation of specialists in basic and applied sciences such as bioinformatics and population genomics.