Human leukocyte antigen (HLA) identification at the allelic level is important for haematopoietic stem cell transplantation (HSCT). Next‐generation sequencing (NGS) resolves ambiguous alleles by determining the phase of the polymorphisms. The aim of this study was to validate the software for HLA‐SBT (sequence‐based typing), assess Korean allele frequency, and characterise the performance of NGS‐HLA typing.

中文翻译：

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韩国人群的HLA-A，-B，-C，-DRB1等位基因和单倍型频率以及通过下一代测序进行HLA分型的表现特征

等位基因水平的人类白细胞抗原（HLA）鉴定对于造血干细胞移植（HSCT）很重要。下一代测序（NGS）通过确定多态性的相位来解析等位基因。这项研究的目的是验证用于HLA-SBT（基于序列的分型）的软件，评估韩国等位基因频率，并表征NGS-HLA分型的性能。