Department of Pediatrics, University of California, San Francisco, Oakland, California, USA.
DKMS, Tübingen, Germany.
HLA. 2023 Oct;102(4):501-507. doi: 10.1111/tan.15145. Epub 2023 Jul 5.
The nomenclatures used to describe HLA and killer-cell immunoglobulin-like receptor (KIR) alleles distinguish unique nucleotide and peptide sequences, and patterns of expression, but are insufficient for describing genotyping results, as description of ambiguities and relations across loci require terminology beyond allele names. The genotype list (GL) String grammar describes genotyping results for genetic systems with defined nomenclatures, like HLA and KIR, documenting what is known and unknown about a given genotyping result. However, the accuracy of a GL String is dependent on the reference database version under which it was generated. Here, we describe the GL string code (GLSC) system, which associates each GL String with meta-data describing the specific reference context in which the GL String was created, and in which it should be interpreted. GLSC is a defined syntax for exchanging GL Strings in the context of a specific gene-family namespace, allele-name code-system, and pertinent reference database version. GLSC allows HLA and KIR genotyping data to be transmitted, parsed and interpreted in the appropriate context, in an unambiguous manner, on modern data-systems, including Health Level 7 Fast Healthcare Interoperability Resource systems. Technical specification for GLSC can be found at https://glstring.org.
用于描述人类白细胞抗原（HLA）和杀伤细胞免疫球蛋白样受体（KIR）等位基因的命名法区分独特的核苷酸和肽序列以及表达模式，但不足以描述基因分型结果，因为描述等位基因名称之外的模糊性和各基因座之间的关系需要使用术语。基因型列表（GL）字符串语法描述了具有明确定义命名法的遗传系统（如 HLA 和 KIR）的基因分型结果，记录了给定基因分型结果的已知和未知信息。然而，GL 字符串的准确性取决于生成它的参考数据库版本。在这里，我们描述了 GL 字符串代码（GLSC）系统，该系统将每个 GL 字符串与描述创建 GL 字符串的特定参考上下文以及应在其中解释的元数据相关联。GLSC 是在特定基因家族命名空间、等位基因名称代码系统和相关参考数据库版本的上下文中交换 GL 字符串的定义语法。GLSC 允许 HLA 和 KIR 基因分型数据以明确的方式在现代数据系统（包括健康水平 7 快速医疗互操作性资源系统）中在适当的上下文中传输、解析和解释。GLSC 的技术规范可以在 https://glstring.org 上找到。
