MergeReference: A Tool for Merging Reference Panels for HLA Imputation

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 referenc...

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Bibliographic Details
Main Authors: Seungho Cook, Buhm Han
Format: Article
Language:English
Published: BioMed Central 2017-09-01
Series:Genomics & Informatics
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Online Access:http://genominfo.org/upload/pdf/GI-2017-15-3-108.pdf
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Summary: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.
ISSN:2234-0742