title: Worldwide human relationships inferred from genome-wide patterns of variation.
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.
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5120, USA.
authors.forename: Jun Z
authors.initials: JZ
authors.lastname: Li
authors.forename: Devin M
authors.initials: DM
authors.lastname: Absher
authors.forename: Hua
authors.initials: H
authors.lastname: Tang
authors.forename: Audrey M
authors.initials: AM
authors.lastname: Southwick
authors.forename: Amanda M
authors.initials: AM
authors.lastname: Casto
authors.forename: Sohini
authors.initials: S
authors.lastname: Ramachandran
authors.forename: Howard M
authors.initials: HM
authors.lastname: Cann
authors.forename: Gregory S
authors.initials: GS
authors.lastname: Barsh
authors.forename: Marcus
authors.initials: M
authors.lastname: Feldman
authors.forename: Luigi L
authors.initials: LL
authors.lastname: Cavalli-Sforza
authors.forename: Richard M
authors.initials: RM
authors.lastname: Myers
mesh_terms: D017954:Africa South of the Sahara; D000818:Animals; D018703:Founder Effect; D005787:Gene Frequency; D040961:Genetic Drift; D015894:Genome, Human; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D002679:Pan troglodytes / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide