Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

by: Jun Z Li, Devin M Absher, Hua Tang, Audrey M Southwick, Amanda M Casto, Sohini Ramachandran, Howard M Cann, Gregory S Barsh, Marcus Feldman, Luigi L Cavalli-Sforza, Richard M Myers

Science, Vol. 319, No. 5866. (22 February 2008), pp. 1100-1104.

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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. 10.1126/science.1153717

@article{citeulike:2410507, 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. 10.1126/science.1153717}, author = {Li, Jun Z. and Absher, Devin M. and Tang, Hua and Southwick, Audrey M. and Casto, Amanda M. and Ramachandran, Sohini and Cann, Howard M. and Barsh, Gregory S. and Feldman, Marcus and Cavalli-Sforza, Luigi L. and Myers, Richard M. }, citeulike-article-id = {2410507}, doi = {10.1126/science.1153717}, journal = {Science}, keywords = {evolution, genome-wide, human}, month = {February}, number = {5866}, pages = {1100--1104}, posted-at = {2008-04-12 13:32:56}, priority = {2}, title = {Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation}, url = {http://dx.doi.org/10.1126/science.1153717}, volume = {319}, year = {2008} }

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TY - JOUR ID - citeulike:2410507 L3 - citeulike-article-id:2410507 TI - Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation JF - Science VL - 319 IS - 5866 SP - 1100 EP - 1104 N2 - 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. 10.1126/science.1153717 KW - evolution KW - genome-wide KW - human AU - Li, Jun AU - Absher, Devin AU - Tang, Hua AU - Southwick, Audrey AU - Casto, Amanda AU - Ramachandran, Sohini AU - Cann, Howard AU - Barsh, Gregory AU - Feldman, Marcus AU - Cavalli-Sforza, Luigi AU - Myers, Richard PY - 2008/02/22/ UR - http://dx.doi.org/10.1126/science.1153717 ER -

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