Origins and architecture of human genomic variation

20世纪初通过绘制模型生物的基因图谱，我们得以了解遗传的本质。在过去的二十年里，我们转向了基因图谱和基因组测序。通过这种方式，我们开始了解它的结构和种群变异性，希望获得关于人类特征的遗传基础的知识，以保护我们的健康，避免疾病。我们的项目继续这一努力。它是关于研究、理解和解释人类群体中的遗传变异模式。这样的研究为研究简单和复杂的遗传特征提供了基本的工具和成分。然而，如果没有关于我们遗传计划的组织和功能以及关于基因组变异的结构和来源的基本知识，这样的实际结果是不可能实现的。我们从一开始就解决了许多悬而未决的问题，这些问题涉及智人在非洲的起源，它与尼安德特人的混合，以及随后扩张到世界上的殖民。我们开发了新的方法来了解我们基因组的特定功能片段：一些负责调节基因表达，另一些携带人类适应不断变化的环境条件的签名。我们还研究解释遗传信息组织方式的遗传和进化机制。在我们的调查中，我们使用我们收集的DNA样本来生成我们自己的数据，但同时我们也受益于快速增长的可公开获得的人类遗传多样性数据。所有这些新的结果将促进我们的知识，导致在分析和理解种群变异的概念和方法上的新发展。我们的研究项目提供了新的培训机会，因为它是多学科的，成为生物信息学和人口基因组学等基础和应用科学领域新一代专家的温床。

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.