Genomics & Informatics

  • 제15권3호
  • /
  • Pages.108-111
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  • 2017
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  • 1598-866X(pISSN)
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  • 2234-0742(eISSN)
한국유전체학회 (Korea Genome Organization)
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MergeReference: A Tool for Merging Reference Panels for HLA Imputation

  • Cook, Seungho (Department of Convergence Medicine, University of Ulsan College of Medicine and Asan Institute for Life Sciences, Asan Medical Center) ;
  • Han, Buhm (Department of Convergence Medicine, University of Ulsan College of Medicine and Asan Institute for Life Sciences, Asan Medical Center)
  • 투고 : 2017.08.07
  • 심사 : 2017.08.30
  • 발행 : 2017.09.30
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초록

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.

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참고문헌

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