Article
Improved HLA-based prediction of coeliac disease identifies two novel genetic interactions.
European journal of human genetics : EJHG - 1 Dec 2020
Erlichster Michael, Bedo Justin, Skafidas Efstratios, Kwan Patrick, Kowalczyk Adam, Goudey Benjamin
Abstract excerpt
Human Leucocyte Antigen (HLA) testing is useful in the clinical work-up of coeliac disease (CD) with high negative but low positive predictive value. We construct a genomic risk score (GRS) using HLA risk genotypes to improve CD prediction and guide exclusion criteria. Imputed HLA genotypes for five European CD case-control GWAS (n > 15,000) were used to construct and validate an interpretable HLA-based risk...
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