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Results: Direct Imputation of summary STatistics (DIST) imputes the summary statistics of untyped variants without first imputing their subject-level genotypes.
DIST is a novel tool for direct imputation of summary statistics at untyped SNPs.
However, in their present form, direct imputation methods are only amenable for imputation in ethnically homogeneous cohorts.
To directly impute summary statistics while (i) substantially reducing the computational burden and (ii) retaining imputation accuracy, we propose Direct Imputation of summary STatistics (DIST).
For more details on (or usage of) the direct imputation method employed internally by JEPEG, please see http://code.google.com/p/dist.com/p/dist
Here, we investigated the accuracy of direct imputation from 50 k SNP-chip data to sequence-level genotypes in the Franches-Montagnes (FM) horse breed.
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To uncover functional variation tagged by rs4779584, we had previously refined its association signal using direct genotyping, imputation, and conditional logistic regression (Tomlinson et al., 2011).
SNPs with frequencies >1% can usually be tested in thousands of samples by direct genotyping or imputation since these SNPs are frequent enough to be tested individually.
To further elucidate the association of the 5p15 TERT locus with PrCa risk, we have performed a high-resolution fine-mapping of SNPs across the region through a combination of direct genotyping and imputation.
For 241 SNPs in the 14 candidate genes both imputation and direct genotyping data were available irrespective of previously reported associations (table S2).
It must be noticed we used kopt defined by [ 27], this choice has a direct impact on the imputation values.
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