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Perspectives on Human Genetic Variation from the HapMap Project

Figure 1

The Relationship between Genealogical History and Allelic Association

The upper part of the figure represents the genealogy for the 13 haplotypes observed in a 40-kb region of Chromosome 1 (between SNPs rs12085605 and rs932087) where there is no evidence for recombination (for no pair of SNPs are all four possible combinations of alleles observed), with the location of polymorphic mutations indicated by circles. The lower part of the figure indicates the relative frequency of each haplotype in the sample from each of the three panels (in greyscale, with white indicating 0% and black indicating 100%). The dotted line in the genealogy indicates a branch of the tree that is not present in the CEU sample and whose removal results in perfect association between SNPs rs12085824 and rs11205476.

Figure 1

doi: https://doi.org/10.1371/journal.pgen.0010054.g001