title: Global distribution of genomic diversity underscores rich complex history of continental human populations.
abstract: Characterizing patterns of genetic variation within and among human populations is important for understanding human evolutionary history and for careful design of medical genetic studies. Here, we analyze patterns of variation across 443,434 single nucleotide polymorphisms (SNPs) genotyped in 3845 individuals from four continental regions. This unique resource allows us to illuminate patterns of diversity in previously under-studied populations at the genome-wide scale including Latin America, South Asia, and Southern Europe. Key insights afforded by our analysis include quantifying the degree of admixture in a large collection of individuals from Guadalajara, Mexico; identifying language and geography as key determinants of population structure within India; and elucidating a north-south gradient in haplotype diversity within Europe. We also present a novel method for identifying long-range tracts of homozygosity indicative of recent common ancestry. Application of our approach suggests great variation within and among populations in the extent of homozygosity, suggesting both demographic history (such as population bottlenecks) and recent ancestry events (such as consanguinity) play an important role in patterning variation in large modern human populations.
authors.affiliation: Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853-2601, USA.
authors.forename: Adam
authors.initials: A
authors.lastname: Auton
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Bryc
authors.forename: Adam R
authors.initials: AR
authors.lastname: Boyko
authors.forename: Kirk E
authors.initials: KE
authors.lastname: Lohmueller
authors.forename: John
authors.initials: J
authors.lastname: Novembre
authors.forename: Andy
authors.initials: A
authors.lastname: Reynolds
authors.forename: Amit
authors.initials: A
authors.lastname: Indap
authors.forename: Mark H
authors.initials: MH
authors.lastname: Wright
authors.forename: Jeremiah D
authors.initials: JD
authors.lastname: Degenhardt
authors.forename: Ryan N
authors.initials: RN
authors.lastname: Gutenkunst
authors.forename: Karen S
authors.initials: KS
authors.lastname: King
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Nelson
authors.forename: Carlos D
authors.initials: CD
authors.lastname: Bustamante
mesh_terms: D001208:Asia; D005060:Europe; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human; D005838:Genotype; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007843:Latin America; D020641:Polymorphism, Single Nucleotide; D025341:Principal Component Analysis