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通过全面 HLA 等位基因分型进行 HLA 基因的高分辨率基因组分析。

High-Definition Genomic Analysis of HLA Genes Via Comprehensive HLA Allele Genotyping.

机构信息

Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.

出版信息

Methods Mol Biol. 2020;2131:31-38. doi: 10.1007/978-1-0716-0389-5_3.

Abstract

HLA is essential for various medical applications, such as genomic studies of multifactorial diseases, including immune system and inflammation-related disorders. Therefore, an accurate HLA typing method that is applicable for any allele registered in HLA allele databases is required to deduce scientific evidence related to disorders. Here, we describe a method for determining HLA alleles from next-generation sequencing (NGS) results by using currently available HLA sequence data in public HLA databases and show its application in association analysis.

摘要

HLA 在各种医学应用中至关重要,例如多因素疾病的基因组研究,包括免疫系统和炎症相关疾病。因此,需要一种适用于 HLA 等位基因数据库中注册的任何等位基因的准确 HLA 分型方法,以推导出与疾病相关的科学证据。在这里,我们描述了一种从下一代测序(NGS)结果中确定 HLA 等位基因的方法,该方法使用了公共 HLA 数据库中当前可用的 HLA 序列数据,并展示了其在关联分析中的应用。

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