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Increasing accuracy of HLA imputation by a population-specific reference panel in a FinnGen biobank cohort

6 May 2020

Abstract excerpt

The HLA genes, the most polymorphic genes in the human genome, constitute the strongest single genetic susceptibility factor for autoimmune diseases, transplantation alloimmunity and infections. HLA imputation via statistical inference of alleles based on single-nucleotide polymorphisms (SNPs) in linkage disequilibrium (LD) with alleles is a powerful first-step screening tool. Due to different LD structures...

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PMID: 33575586
DOI: 10.1093/nargab/lqaa030

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