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Accurate imputation of human leukocyte antigens with CookHLA.

ABSTRACT: The recent development of imputation methods enabled the prediction of human leukocyte antigen (HLA) alleles from intergenic SNP data, allowing studies to fine-map HLA for immune phenotypes. Here we report an accurate HLA imputation method, CookHLA, which has superior imputation accuracy compared to previous methods. CookHLA differs from other approaches in that it locally embeds prediction markers into highly polymorphic exons to account for exonic variability, and in that it adaptively learns the genetic map within MHC from the data to facilitate imputation. Our benchmarking with real datasets shows that our method achieves high imputation accuracy in a wide range of scenarios, including situations where the reference panel is small or ethnically unmatched.

SUBMITTER: Cook S

PROVIDER: S-EPMC7904773 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Accurate imputation of human leukocyte antigens with CookHLA.

Cook Seungho S Choi Wanson W Lim Hyunjoon H Luo Yang Y Kim Kunhee K Jia Xiaoming X Raychaudhuri Soumya S Han Buhm B

Nature communications 20210224 1

The recent development of imputation methods enabled the prediction of human leukocyte antigen (HLA) alleles from intergenic SNP data, allowing studies to fine-map HLA for immune phenotypes. Here we report an accurate HLA imputation method, CookHLA, which has superior imputation accuracy compared to previous methods. CookHLA differs from other approaches in that it locally embeds prediction markers into highly polymorphic exons to account for exonic variability, and in that it adaptively learns ...[more]

PMID: 33627654

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