Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation
@article{Li2008WorldwideHR, title={Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation}, author={Jun Z. Li and Devin M Absher and Hua Tang and Audrey M. Southwick and Amanda M. Casto and Sohini Ramachandran and Howard M. Cann and Gregory S. Barsh and Marcus W. Feldman and Luigi Luca Cavalli-Sforza and Richard M. Myers}, journal={Science}, year={2008}, volume={319}, pages={1100 - 1104} }
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…
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References
SHOWING 1-10 OF 41 REFERENCES
A haplotype map of the human genome
- BiologyNature
- 2005
A public database of common variation in the human genome: more than one million single nucleotide polymorphisms for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted.
Genetic Structure of Human Populations
- BiologyScience
- 2002
General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies.
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
- BiologyNature Genetics
- 2006
Although the portability of tag SNPs based on the HapMap is reduced in low-LD Africans, the HAPMap will be helpful for the design of genome-wide association mapping studies in nearly all human populations.
High resolution of human evolutionary trees with polymorphic microsatellites
- BiologyNature
- 1994
It is shown that polymorphic microsatellites (primarily CA repeats) allow trees of human individuals to be constructed that reflect their geographic origin with remarkable accuracy by the analysis of a large number of loci for each individual, in spite of the small variations in allele frequencies existing between populations.
Features of evolution and expansion of modern humans, inferred from genomewide microsatellite markers.
- BiologyAmerican journal of human genetics
- 2003
Variation at di-, tri-, and tetranucleotide repeat loci is distributed differently, although each class of markers exhibits a decrease of within-population genetic variation in the following order: sub-Saharan Africa, Eurasia, East Asia, Oceania, and America.
Localizing Recent Adaptive Evolution in the Human Genome
- BiologyPLoS genetics
- 2007
It is found that recent adaptation is strikingly pervasive in the human genome, with as much as 10% of the genome affected by linkage to a selective sweep.
Robustness of the inference of human population structure: A comparison of X-chromosomal and autosomal microsatellites
- BiologyHuman Genomics
- 2003
Data on 20 X-chromosomal microsatellite polymorphisms from the HGDP-CEPH cell line panel are used to infer human population structure and differences between the X- chromosome and autosomal results can be explained without requiring major differences in demographic parameters between males and females.
The Allele Frequency Spectrum in Genome-Wide Human Variation Data Reveals Signals of Differential Demographic History in Three Large World Populations
- PhysicsGenetics
- 2004
A simple, closed mathematical formulation for the spectrum of expected allele frequencies when the sampled populations have experienced nonstationary demographic histories is derived, which generates spectra for a large number of alternative histories on a multidimensional parameter grid.
Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa.
- BiologyProceedings of the National Academy of Sciences of the United States of America
- 2005
It is found that heterozygosities in the globally distributed populations of the data set are best explained by an expansion originating in Africa and that no geographic origin outside of Africa accounts as well for the observed patterns of genetic diversity.
A Map of Recent Positive Selection in the Human Genome
- BiologyPLoS biology
- 2006
A set of SNPs is developed that can be used to tag the strongest ∼250 signals of recent selection in each population, and it is found that by some measures the authors' strongest signals of selection are from the Yoruba population.