Construction of full-length Japanese reference panel of class I HLA genes with single-molecule, real-time sequencing.
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| Abstract | 
   :  
              Human leukocyte antigen (HLA) is a gene complex known for its exceptional diversity across populations, importance in organ and blood stem cell transplantation, and associations of specific alleles with various diseases. We constructed a Japanese reference panel of class I HLA genes (ToMMo HLA panel), comprising a distinct set of HLA-A, HLA-B, HLA-C, and HLA-H alleles, by single-molecule, real-time (SMRT) sequencing of 208 individuals included in the 1070 whole-genome Japanese reference panel (1KJPN). For high-quality allele reconstruction, we developed a novel pipeline, Primer-Separation Assembly and Refinement Pipeline (PSARP), in which the SMRT sequencing and additional short-read data were used. The panel consisted of 139 alleles, which were all extended from known IPD-IMGT/HLA sequences, contained 40 with novel variants, and captured more than 96.5% of allelic diversity in 1KJPN. These newly available sequences would be important resources for research and clinical applications including high-resolution HLA typing, genetic association studies, and analyzes of cis-regulatory elements.  | 
        
| Year of Publication | 
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              2018 
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| Journal | 
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              The pharmacogenomics journal 
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| Date Published | 
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              2018 
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| ISSN Number | 
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              1470-269X 
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| URL | 
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              http://dx.doi.org/10.1038/s41397-017-0010-4 
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| DOI | 
   :  
              10.1038/s41397-017-0010-4 
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| Short Title | 
   :  
              Pharmacogenomics J 
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