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标准参考序列,用于提交第 18 届国际 HLA 和免疫遗传学研讨会的 HLA 基因分型。

Standard reference sequences for submission of HLA genotyping for the 18th International HLA and Immunogenetics Workshop.

机构信息

Center of Translational Immunology, UMC Utrecht, Utrecht, the Netherlands.

Department of Pediatrics, University of California, Oakland, California, USA.

出版信息

HLA. 2021 Jun;97(6):512-519. doi: 10.1111/tan.14259. Epub 2021 Mar 25.

DOI:10.1111/tan.14259
PMID:33719220
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8251737/
Abstract

The International human leukocyte antigen (HLA) and Immunogenetics Workshops (IHIWs) have fostered international collaborations of researchers and experts in the fields of HLA, histocompatibility and immunology. These IHIW collaborations have comprised many projects focused on achieving a variety of specific goals. The international and collaborative nature of these projects necessitates the collection and analysis of complex data generated in multiple laboratories, often using multiple methods of acquisition. Collection and storage of these data in a consistent way adds value to IHIW projects, which can be extended to future work. DNA-based genotyping data, especially HLA genotyping data, can be transmitted in the form of a Histoimmunogenetics Markup Language (HML) document. HML facilitates clear communication of a genotype and supporting metadata, such as, sequencing platform, laboratory assays, consensus sequence, and interpretation. Sequence information can be reported relative to known reference sequences, which add meaning and context to genotypes. Selecting the correct reference sequence for a given allele sequence is nuanced, and guidelines have emerged through collaborative community efforts such as Data Standards Hackathons. Here, we describe the guidelines established for the selection of reference sequences to be used in transmission of HLA (and MICA/MICB) genotyping data for the 18th IHIW.

摘要

国际人类白细胞抗原(HLA)和免疫遗传学研讨会(IHIW)促进了 HLA、组织相容性和免疫学领域的研究人员和专家的国际合作。这些 IHIW 合作包括许多专注于实现各种具体目标的项目。这些项目的国际性和协作性要求收集和分析在多个实验室中生成的复杂数据,这些数据通常使用多种获取方法。以一致的方式收集和存储这些数据为 IHIW 项目增值,并且可以扩展到未来的工作。基于 DNA 的基因分型数据,特别是 HLA 基因分型数据,可以以Histoimmunogenetics Markup Language(HML)文档的形式传输。HML 促进了基因型及其支持元数据(例如测序平台、实验室检测、共识序列和解释)的清晰交流。序列信息可以相对于已知参考序列进行报告,这为基因型添加了意义和上下文。选择给定等位基因序列的正确参考序列是微妙的,并且通过 Data Standards Hackathons 等协作社区努力已经出现了指南。在这里,我们描述了为在第 18 次 IHIW 中传输 HLA(和 MICA/MICB)基因分型数据而选择参考序列的指南。

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