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从纯合个体估计 HLA 单倍型频率-技术报告。

Estimating HLA haplotype frequencies from homozygous individuals - A Technical Report.

机构信息

DKMS, Tübingen, Germany.

DKMS Life Science Lab, Dresden, Germany.

出版信息

Int J Immunogenet. 2021 Dec;48(6):490-495. doi: 10.1111/iji.12553. Epub 2021 Sep 27.

DOI:10.1111/iji.12553
PMID:34570965
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9131737/
Abstract

We estimated HLA haplotype frequencies based on individuals homozygous for 4, 5 or 6 loci. Validation of our approach using a sample of over 3.4 million German individuals was successful. Compared to an expectation-maximization algorithm, the errors were larger. However, our approach allows the unequivocal detection of rare haplotypes.

摘要

我们根据个体在 4、5 或 6 个基因座上的纯合性来估计 HLA 单倍型频率。使用超过 340 万德国个体的样本对我们方法的验证是成功的。与期望最大化算法相比，误差更大。然而，我们的方法允许明确检测罕见的单倍型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffcb/9543325/42e0e962bc49/IJI-48-490-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffcb/9543325/7d0075f9e542/IJI-48-490-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffcb/9543325/42e0e962bc49/IJI-48-490-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffcb/9543325/7d0075f9e542/IJI-48-490-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffcb/9543325/42e0e962bc49/IJI-48-490-g002.jpg

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