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Conjuring SNPs to detect associations

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Human genome-wide association studies pose a challenge in identifying significant disease associations from nearly half a million statistical tests. A new report describes an especially promising approach, recently applied to the Wellcome Trust Case Control Consortium data sets, that uses the correlated structure of genomic variation to impute genotypes at missing sites and to test association with both observed and imputed SNPs.

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Figure 1: Inference of missing SNP genotypes (imputation) and the resulting improvement in the power of association tests.

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Clark, A., Li, J. Conjuring SNPs to detect associations. Nat Genet 39, 815–816 (2007). https://doi.org/10.1038/ng0707-815

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