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通过下一代测序进行HLA分型——离现实更近一步。

HLA typing by next-generation sequencing - getting closer to reality.

作者信息

Gabriel C, Fürst D, Faé I, Wenda S, Zollikofer C, Mytilineos J, Fischer G F

机构信息

Red Cross Transfusion Service of Upper Austria, Linz, Austria.

出版信息

Tissue Antigens. 2014 Feb;83(2):65-75. doi: 10.1111/tan.12298.

DOI:10.1111/tan.12298
PMID:24447174
Abstract

Next generation sequencing (NGS) denotes novel sequencing technologies that enable the generation of a large number of clonal sequences in a single sequencing run. NGS was initially introduced for whole genome sequencing and for quantitation of viral variants or genetic mutations in tumor tissues; more recently, the potential for high resolution HLA typing and high throughput analyses has been explored. It became clear that the complexity of the HLA system implicates new challenges, especially for bioinformatics. From an economical point of view, NGS is becoming increasingly attractive for HLA typing laboratories currently relying on Sanger based sequencing. Realizing the full potential of NGS will require the development of specifically adapted typing strategies and software algorithms. In the present review, three laboratories that were among the first to perform HLA-typing using different NGS platforms, the Roche 454, the Illumina Miseq and the Ion Torrent system, respectively, give an overview of these applications and point out advantages and limitations.

摘要

下一代测序(NGS)指的是能够在单次测序运行中生成大量克隆序列的新型测序技术。NGS最初被用于全基因组测序以及肿瘤组织中病毒变体或基因突变的定量分析;最近,人们探索了其在高分辨率HLA分型和高通量分析方面的潜力。很明显,HLA系统的复杂性带来了新的挑战,尤其是对生物信息学而言。从经济角度来看,NGS对于目前依赖基于桑格测序法的HLA分型实验室正变得越来越有吸引力。要充分发挥NGS的潜力,将需要开发专门适配的分型策略和软件算法。在本综述中,分别最早使用不同NGS平台(罗氏454、Illumina Miseq和Ion Torrent系统)进行HLA分型的三个实验室,对这些应用进行了概述,并指出了其优缺点。

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