Human Genomic Variation

  • Carsten Carlberg
  • Stine Marie Ulven
  • Ferdinand Molnár


This chapter will briefly describe the genetic adaption of anatomically modern humans due to migration to new geographic and climatic environments in Asia and Europe. This includes also the challenges provided by the shift from hunters and gatherers to farmers. Genetic differences between human populations are most pronounced in tissues, such as the skin, the intestinal tract or the immune system, that are directly affected by the environment. This led not only to obvious differences in skin color among the populations, but also in different resistance to diseases and diversity in dietary intake, such as the ability to digest lactose (milk sugar). The genetic basis of the variation of human populations and individuals has recently been studied and catalogued by large consortia, such as the 1000 Genomes Project. Genome-wide genotyping and whole genome sequencing allows the study and analysis of complex diseases, such as T2D and CVDs, on the basis of dozens to hundreds of genetic variants, such as SNPs and CNVs (copy number variations).


Human evolution Human populations Single nucleotide variants Copy number variants Haplotype blocks Next-generation sequencing HapMap Project Genome-wide association studies 1000 Genomes Project 

Additional Readings

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Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Carsten Carlberg
    • 1
  • Stine Marie Ulven
    • 2
  • Ferdinand Molnár
    • 3
  1. 1.Institute of BiomedicineUniversity of Eastern FinlandKuopioFinland
  2. 2.Department of NutritionUniversity of OsloOsloNorway
  3. 3.Department of BiologyNazarbayev UniversityNur-SultanKazakhstan

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