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Common and well-documented HLA alleles of German stem cell donors by haplotype frequency estimation

机译:通过单倍型频率估算德国干细胞供体的常见和良好的HLA等位基因

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摘要

We present a catalog of common and well-documented (CWD) alleles of the German population for the six HLA loci A, B, C, DRB1, DQB1, and DPB1. This study is based on a sample of over 5 million volunteer adult hematopoietic stem cell donors from the 26 German donor centers. To establish the catalog, allele and haplotype frequencies were estimated with a validated implementation of the expectation-maximization algorithm. CWD criteria similar to existing CWD catalogs were applied in order to be able to put our findings into the context of relevant existing references. Overall, 2155 HLA-A, -B, -C, -DRB1, -DQB1, and -DPB1 alleles were identified as CWD in the German donor population representing about 20% of the HLA alleles at two-field resolution in the IPD-IMGT/HLA Database release v3.25.0 from July 2016 for these six loci. We found a substantial concordance of CWD alleles between the three catalogs and showed the contribution of the German donor population to the CWD alleles domain. In conclusion, the definition of CWD criteria that allow interoperability, scalability, and flexibility will be crucial for the development of a worldwide CWD catalog.
机译:我们为六个HLA LOCI A,B,C,DRB1,DQB1和DPB1展示了德国人口的常见和记录的(CWD)等位基因的目录。本研究基于来自26宗德国捐助中心的500多万志愿者造血干细胞供体的样本。为了建立目录,通过验证的预期最大化算法估算了等位基因和单倍型频率。应用类似于现有CWD目录的CWD标准,以便能够将我们的研究结果纳入相关现有参考的背景下。总体而言,2155 HLA-A,-B,-C,-CLB1,-DQB1和-DPB1等位基因在IPD-IMGT中的两场分辨率下的约20%的HLA等位基因中被识别为CWD / HLA数据库从2016年7月发布v3.25.0为这六个位置。我们在三个目录之间发现了CWD等位基因的大量一致性,并显示了德国捐助人群对CWD等位基因域的贡献。总之,CWD标准的定义,允许互操作性,可扩展性和灵活性,对全球CWD目录的发展至关重要。

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