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Chunk #22 — New insights into linkage disequilibrium structure — The distribution and causes of untaggable SNPs

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A second generation human haplotype map of over 3.1 million SNPs.
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Despite the SNP density of the Phase II HapMap, there are high-frequency SNPs for which no tag can be identified. Among high-frequency SNPs (MAF≥0.2), we marked as untaggable SNPs to which no other SNP within 100 kb has an r2 value of at least 0.2. In Phase II, approximately 0.5–1.0% of all high-frequency SNPs are untaggable and the proportion in YRI is approximately twice as high as in the other panels. Similar proportions are observed across the ten HapMap ENCODE regions.