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Chunk #15 — The use of the Phase II HapMap in association studies — Phase II HapMap and genome-wide association studies

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A second generation human haplotype map of over 3.1 million SNPs.
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HapMap data have several additional roles in the analysis of disease-association studies using fixed marker sets. For example, the high-quality haplotype information within the Phase II HapMap can be used to aid the phasing of genotype data from new samples because additional haplotypes are likely to be locally very similar to at least one haplotype in the Phase II data. By a similar argument, missing genotypes can potentially be inferred through comparison to the Phase II haplotypes. Genotypes may be missing either because of genotyping failure or because the SNP was not assayed within the experiment. Therefore, the HapMap haplotypes provide a way of in silico genotyping Phase II SNPs that were not included in the experiment.