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Chunk #18 — New insights into linkage disequilibrium structure — The extent of recent common ancestry and segmental sharing

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A second generation human haplotype map of over 3.1 million SNPs.
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A simplified view of linkage disequilibrium is that genetic variation is organized in relatively short stretches of strong linkage disequilibrium (haplotype blocks), each containing only a few common haplotypes and separated by recombination hotspots across which little association remains25. Although this view has heuristic value, if chromosomes share a recent common ancestor then similarity between chromosomes can extend over considerable genetic distance and span multiple recombination hotspots26. The extent of such recent ancestry in the four populations surveyed here has not been characterized previously. Therefore we identified stretches of identity between pairs of chromosomes, both within and across individuals, reflecting autozygosity and identity-by-descent (IBD) (Fig. 3a). After first checking for stratification within each analysis panel (see Supplementary Text 3; none was found for YRI, CEU and JPT, and only small stratification was found for CHB), we calculated genome-wide probabilities of sharing 0, 1 or 2 chromosomes identical by descent for each pair of individuals (see Supplementary Text 4). In addition to identifying a few close relationships (as reported in HapMap Phase I3), we estimate that, on average, any two individuals