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A long road/read to rapid high-resolution HLA typing: The nanopore perspective
Human Immunology ( IF 2.7 ) Pub Date : 2020-05-01 , DOI: 10.1016/j.humimm.2020.04.009
Chang Liu 1
Affiliation  

Next-generation sequencing (NGS) has been widely adopted for clinical HLA typing and advanced immunogenetics researches. Current methodologies still face challenges in resolving cis–trans ambiguity involving distant variant positions, and the turnaround time is affected by testing volume and batching. Nanopore sequencing may become a promising addition to the existing options for HLA typing. The technology delivered by the MinION sequencer of Oxford Nanopore Technologies (ONT) can record the ionic current changes during the translocation of DNA/RNA strands through transmembrane pores and translate the signals to sequence reads. It features simple and flexible library preparations, long sequencing reads, portable and affordable sequencing devices, and rapid, real-time sequencing. However, the error rate of the sequencing reads is high and remains a hurdle for its broad application. This review article will provide a brief overview of this technology and then focus on the opportunities and challenges of using nanopore sequencing for high-resolution HLA typing and immunogenetics research.



中文翻译:

快速高分辨率 HLA 分型的漫长道路/阅读:纳米孔透视

新一代测序 (NGS) 已广泛用于临床 HLA 分型和高级免疫遗传学研究。当前的方法在解决涉及远距离变异位置的顺反歧义方面仍然面临挑战,并且周转时间受测试量和批处理的影响。纳米孔测序可能成为现有 HLA 分型选项的有希望的补充。Oxford Nanopore Technologies (ONT) 的 MinION 测序仪提供的技术可以记录 DNA/RNA 链在跨膜孔易位过程中的离子电流变化,并将信号转化为序列读数。它具有简单灵活的文库制备、长测序读数、便携且价格合理的测序设备以及快速、实时的测序。然而,测序读取的错误率很高,仍然是其广泛应用的障碍。这篇综述文章将简要概述这项技术,然后重点介绍使用纳米孔测序进行高分辨率 HLA 分型和免疫遗传学研究的机遇和挑战。

更新日期:2020-05-01
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