Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

TLDR

Human genetic diversity is shaped by demographic and biological factors, influencing disease genetics. The study analyzed 938 unrelated individuals from 51 populations across 650,000 common SNP loci. High‑resolution ancestry and population substructure were revealed, with haplotype heterozygosity supporting a serial founder effect from sub‑Saharan Africa and allele‑frequency patterns reflecting regional population dynamics, providing the most comprehensive characterization of human genetic variation to date.

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.