Worldwide human relationships inferred from genome-wide patterns of variation

Science. 2008 Feb 22;319(5866):1100-4. doi: 10.1126/science.1153717.


Human genetic diversity is shaped by both demographic and biological factors and has fundamental implications for understanding the genetic basis of diseases. We studied 938 unrelated individuals from 51 populations of the Human Genome Diversity Panel at 650,000 common single-nucleotide polymorphism loci. Individual ancestry and population substructure were detectable with very high resolution. The relationship between haplotype heterozygosity and geography was consistent with the hypothesis of a serial founder effect with a single origin in sub-Saharan Africa. In addition, we observed a pattern of ancestral allele frequency distributions that reflects variation in population dynamics among geographic regions. This data set allows the most comprehensive characterization to date of human genetic variation.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Africa South of the Sahara
  • Animals
  • Founder Effect
  • Gene Frequency
  • Genetic Drift
  • Genome, Human*
  • Haplotypes
  • Heterozygote
  • Humans
  • Pan troglodytes / genetics
  • Pedigree
  • Polymorphism, Single Nucleotide*