Article
Significant variation between SNP-based HLA imputations in diverse populations: the last mile is the hardest.
The pharmacogenomics journal - 22 May 2018
Pappas D J, Lizee A, Paunic V, Beutner K R, Motyer A, Vukcevic D, Leslie S, Biesiada J, Meller J, Taylor K D, Zheng X, Zhao L P, Gourraud P-A, Hollenbach J A, Mack S J, Maiers M
Abstract excerpt
Four single nucleotide polymorphism (SNP)-based human leukocyte antigen (HLA) imputation methods (e-HLA, HIBAG, HLA*IMP:02 and MAGPrediction) were trained using 1000 Genomes SNP and HLA genotypes and assessed for their ability to accurately impute molecular HLA-A, -B, -C and -DRB1 genotypes in the Human Genome Diversity Project cell panel. Imputation concordance was high (>89%) across all methods for both HLA-A...
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