Genomics Inform.  2017 Sep;15(3):108-111. 10.5808/GI.2017.15.3.108.

MergeReference: A Tool for Merging Reference Panels for HLA Imputation

Affiliations
  • 1Department of Convergence Medicine, University of Ulsan College of Medicine and Asan Institute for Life Sciences, Asan Medical Center, Seoul 05505, Korea. buhm.han@amc.seoul.kr

Abstract

Recently developed computational methods allow the imputation of human leukocyte antigen (HLA) genes using intergenic single nucleotide polymorphism markers. To improve the imputation accuracy in HLA imputation, it is essential to increase the sample size and the diversity of alleles in the reference panel. Our software, MergeReference, helps achieve this goal by providing a streamlined pipeline for combining multiple reference panels into one.

Keyword

human leukocyte antigens; major histocompatibility complex
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