Journal article

Practical Use of Methods for Imputation of HLA Alleles from SNP Genotype Data

Allan Motyer, Damjan Vukcevic, Alexander Dilthey, Peter Donnelly, Gil McVean, Stephen Leslie

BioRxiv | Cold Spring Harbor Laboratory | Published : 2016


The human leukocyte antigen (HLA) genes play an essential role in immune function. Typing of HLA alleles is critical for transplantation and is informative for many disease associations. The high cost of accurate lab-based HLA typing has precluded its use in large-scale disease-association studies. The development of statistical methods to type alleles using linkage disequilibrium with nearby SNPs, called HLA imputation, has allowed large cohorts of individuals to be typed accurately, so that massive numbers of affected individuals and controls may be studied. This has resulted in many important findings. Several HLA imputation methods have been widely used, however their relative performanc..

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