MergeReference: A Tool for Merging Reference Panels for HLA Imputation.

Author: Seungho COOK ¹ ; Buhm HAN
Author Information

1. Department 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
Publication Type:Original Article
Keywords: human leukocyte antigens; major histocompatibility complex
MeSH: Alleles; HLA Antigens; Humans; Leukocytes; Major Histocompatibility Complex; Polymorphism, Single Nucleotide; Sample Size
From:Genomics & Informatics 2017;15(3):108-111
CountryRepublic of Korea
Language:English
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.