Yin Yuxin, Butler Carrie, Zhang Qiuheng
UCLA Immunogenetics Center, Department of Pathology & Laboratory Medicine, Los Angeles, CA, USA.
UCLA Immunogenetics Center, Department of Pathology & Laboratory Medicine, Los Angeles, CA, USA.
Hum Immunol. 2021 Nov;82(11):812-819. doi: 10.1016/j.humimm.2021.03.011. Epub 2021 Apr 21.
Next-generation sequencing (NGS), also known as massively parallel sequencing, has revolutionized genomic research. The current advances in NGS technology make it possible to provide high resolution, high throughput HLA typing in clinical laboratories. The focus of this review is on the recent development and implementation of NGS in clinical laboratories. Here, we examine the critical role of NGS technologies in clinical immunology for HLA genotyping. Two major NGS platforms (Illumina and Ion Torrent) are characterized including NGS library preparation, data analysis, and validation. Challenges of NGS implementation in the clinical laboratory are also discussed, including sequencing error rate, bioinformatics, result interpretation, analytic sensitivity, as well as large data storage. This review aims to promote the broader applications of NGS technology in clinical laboratories and advocate for the novel applications of NGS to drive future research.
下一代测序（NGS），也称为大规模平行测序，已经彻底改变了基因组研究。NGS技术目前的进展使得在临床实验室中提供高分辨率、高通量的HLA分型成为可能。本综述的重点是NGS在临床实验室中的最新发展和应用。在这里，我们研究了NGS技术在临床免疫学中进行HLA基因分型的关键作用。对两个主要的NGS平台（Illumina和Ion Torrent）进行了特征描述，包括NGS文库制备、数据分析和验证。还讨论了在临床实验室中实施NGS的挑战，包括测序错误率、生物信息学、结果解释、分析灵敏度以及大数据存储。本综述旨在促进NGS技术在临床实验室中的更广泛应用，并倡导NGS的新应用以推动未来的研究。
