Abstract

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.

Keywords

Human genetic variationLoss of heterozygosityBiologyEvolutionary biologyGenetic variationHaplotypeGenetic diversityPopulationAllele frequencyHuman genomeGeneticsGenomeNucleotide diversity1000 Genomes ProjectSingle-nucleotide polymorphismAlleleGenotypeDemographyGene

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Year
2008
Type
article
Volume
319
Issue
5866
Pages
1100-1104
Citations
2041
Access
Closed

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Jun Z. Li, Devin M. Absher, Hua Tang et al. (2008). Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation. Science , 319 (5866) , 1100-1104. https://doi.org/10.1126/science.1153717

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DOI
10.1126/science.1153717