Human Population and Evolutionary Genetics
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date_range Starts on December 6, 2021
event_note Ends on February 7, 2022
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assignment Level : Intermediate
chat_bubble_outline Language : English
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About the content

Almost two decades after the sequencing of the human genome, a deluge of population genomic data has been generated, depicting human genetic diversity at an unprecedented level of resolution. International efforts such as the 1,000 Genomes Project, the Exome Aggregation Consortium or the UK Biobank are providing invaluable resources for understanding the genetic architecture of human diseases and traits. These data have also helped to increase our understanding of the demographic history of our species, including how modern human populations have dispersed around the globe, how population sizes have changed over time and the extent to which they have admixed. Of particular interest over the past few years has been the knowledge we have gained through ancient DNA studies, which have shown that archaic hominins, such as Neanderthals and Denisovans, contributed to the genomes of modern non-African populations. This genetic legacy has been, in some cases, beneficial for the survival of the early modern humans leaving the African continent.

Population genetic studies have also brought new insights into how natural selection, in its different forms, has shaped the patterns of diversity of the human genome at the population scale. Specifically, we have learnt about the mechanisms by which deleterious variants are removed from the population and how the demographic history of a population may affect the efficiency of natural selection to purge deleterious alleles. Genomic studies have also shed new light on how humans have adapted to the broad range of environments they occupy. Indeed, during their dispersals across the globe, humans encountered a highly diverse set of climatic, nutritional, and pathogenic conditions, to which they had to adapt. In this context, the detection of molecular signatures of past selection in the human genome has proved crucial for the identification of genes underlying the morphological and physiological diversity observed across human populations, and for increasing our understanding of the genetic architecture of adaptive traits.

This course aims to provide a basic fundamental knowledge of population and evolutionary genetics applied to humans, and illustrates this field with multiple research examples. We will describe the main drivers of our genetic diversity, including mutation, recombination, genetic drift and natural selection. Furthermore, we will explain how different approaches in population genetics can shed new light onto the demographic history of our species, our dispersals around the world, the occurrence and intensity of admixture with archaic humans and between modern human populations, and genetic adaptation to environmental changes.

At the end of this course, you will be able to:

  • Define what is population genetics
  • Explain the factors responsible for genetic diversity
  • Describe the genetic history of our species on the 5 continents
  • Identify how humans have adapted to the great diversity of environments
  • Discuss the importance of the Neanderthal genome in our genetic heritage


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We recommend a good scientific background (such as a bachelor of live science).



Chapter 1 – Human genome diversity and population genetics

  • Diversity of the human genome
  • Public databases of population genetic variation
  • Causes of genetic diversity: mutation and recombination
  • Factors driving genetic diversity: genetic drift
  • Factors driving genetic diversity: natural selection

Chapter 2 – The demographic history of human populations

  • Methods of demographic inference
  • Population splits and admixture among humans
  • The genetic history of the African continent
  • The genetic history of the European continent
  • The genetic history of Asia, Australia and Oceania
  • The genetic history of the Americas
  • The use of pathogens as markers of human migrations
  • Inferring cultural practices through genetics

Chapter 3 – The adaptive history of human populations

  • Diversity of the human genome
  • Methods to detect natural selection
  • The effects of purifying selection in the genome and populations
  • Adaptation to nutritional resources
  • Adaptation to climate and extreme conditions
  • Adaptation to pathogens and infectious diseases
  • Alternative models of adaptation

Chapter 4 – The contribution of ancient DNA studies to human evolution

  • Methods in ancient genomics
  • The archaic hominins and admixture with modern humans
  • Recent history through the lens of ancient DNA
  • The adaptive nature of archaic introgression
  • Public engagement and return to populations





Lluis Quintana-Murci
Lluis Quintana-Murci received his BSc in Biology at the University of Barcelona (Spain), and his Ph.D. in Population Genetics at the University of Pavia (Italy). He heads the Unit of Human Evolutionary Genetics at Institut Pasteur since 2007. He is a human population geneticist whose research focuses on the use of genomic data to infer the past demographic history of human populations and to dissect the different forms in which natural selection can act on the human genome. His team is especially interested in exploring the extent to which pathogens have exerted pressures on innate immunity genes. Over the last years, his team has also adopted a systems immunology approach to understand the different factors (genetic, epigenetic, environmental, etc.) that drive immune response variation between individuals and populations. Lluis Quintan-Murci is professor at College de France.

Etienne Patin
Etienne Patin received his MSc in Biology and Genetics and his PhD in Population Genetics at the University Paris VII (France). After a postdoctoral training in epidemiological genetics at the Necker Hospital (France), he joined Institut Pasteur as a CNRS Research Scientist. He is a population geneticist whose main interests range from the study of past human demography, with a focus on Africa, to the methodological aspects of demographic inference, and, more recently, systems immunology. One of his main research interests is the occurrence and extent of admixture between modern human populations and its potential adaptive nature.

Javier Mendoza Revilla
Javier is a doctor in human genetics, researcher in the Genetics of Human Evolution unit of the Pasteur Institute and member of the CANDELA consortium. He is your community manager for this MOOC.


Content Designer

Institut Pasteur

The Institut Pasteur is a non-profit private French foundation dedicated to the study of biology, microorganisms, diseases and vaccines.




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