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In this work, we aimed to minimize the MSE of imputed summary statistics in our objective function because imputation was one of our main focuses.
To test for the joint effect of eQTL/functional SNPs known to affect the expression of a gene, JEPEG was designed to rely solely on the (univariate) measured and imputed summary statistics.
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Because such an access is required by all genotype imputation methods, it is helpful to develop methods that impute summary statistics without going through the interim step of imputing genotypes.
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).
Within JEPEG software, DIST module is silently run to impute summary statistics for unmeasured functional SNPs.
Both methods can directly impute summary statistics (two-tailed Z-scores) for unmeasured SNPs from genome-wide association studies (GWASs) consisting of both family and independent cohorts.
To adequately analyze such cohorts, we propose DISTMIX, a very fast and novel method/software for directly imputing summary statistics of untyped makers from cosmopolitan cohorts without using subject-level genotype data.
The imputation is achieved by employing DIST, one of our recently developed method/software which directly imputes summary statistics of unmeasured SNPs (Lee et al., 2013), i.e. without the need of a prior genotype imputation.
For example, for z-score imputation, Pasaniuc et al. (2014) showed that as long as there is a best guess reference panel available, there is no increase in false positive rate when imputing summary statistics.
JEPEG is an integrated method/software tool which uses only GWAS summary statistics to (i) rapidly and accurately impute summary statistics of unmeasured eQTL/functional SNPs and (ii) jointly test the effect of these (measured and imputed) functional SNPs associated with each gene in the genome.
The z-score at a SNP i can be imputed from summary statistics and the correlation matrix, Σ, using the ImpG approach (Pasaniuc et al.., 2014).
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Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com