Estimating unbiased haplotype frequencies from stem cell donor samples typed at heterogeneous resolutions: a practical study based on over 1 million German donors
Estimating unbiased haplotype frequencies from stem cell donor samples typed at heterogeneous resolutions: a practical study based on over 1 million German donors
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DOI：
10.1111/j.1399-0039.2010.01518.x
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发表时间：
2010-11-01
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影响因子：
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通讯作者：
Mueller, C. R.
中科院分区：
文献类型：
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作者：
Eberhard, H. -P.;Feldmann, U.;Mueller, C. R.
捐献者登记数据中的人类白细胞抗原 (HLA) 分布通常是非随机的，因为主要出于经济原因，根据先前已知的 HLA 类型有选择地键入其他基因座或解决歧义。通过分析超过 100 万德国干细胞捐献者的样本，我们实际上显示了由于 HLA 单倍型频率 (HF) 估计的输入数据限制为根据其较高的 HLA 分型分辨率选择的子集而导致的偏差程度，以及相反，基于未选择的数据和适合异质分辨率的方法的估计的正确性。我们讨论了这种方法的算法方面，并且由于样本量的原因，我们对德国人群中 HLA-DRB1 等位基因的分布以及 HF 在无关供体搜索中的应用提供了一些新的见解。
The human leukocyte antigen (HLA) distribution in donor registry data is typically nonrandom as, mostly for economical reasons, typing additional loci or resolving ambiguities is selectively performed based on the previously known HLA type. Analyzing a sample of over 1 million German stem cell donors, we practically show the extent of the bias caused by the restriction of the input data for HLA haplotype frequency (HF) estimation to subsets selected according to their higher HLA typing resolution and, conversely, the correctness of estimates based on unselected data with a methodology suitable for heterogeneous resolution. We discuss algorithmic aspects of this approach and, also because of the sample size, provide some new insights into the distribution of HLA-DRB1 alleles in the German population and the application of HFs in unrelated donor search.