Next-generation sequencing technologies: An overview

被引:319
|
作者
Hu, Taishan [1 ]
Chitnis, Nilesh [1 ,3 ]
Monos, Dimitri [1 ,2 ]
Dinh, Anh [1 ,2 ]
机构
[1] Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA
[2] Univ Penn, Perelman Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA
[3] Baylor Coll Med, Dept Surg, Houston, TX 77030 USA
关键词
Next-generation sequencing; Short-read sequencing; Long-read sequencing; HLA TYPING METHOD; RNA-SEQ; LIBRARY CONSTRUCTION; HIGH-RESOLUTION; ANNOTATION; STRATEGIES; FRAMEWORK; VARIANTS; TOPHAT;
D O I
10.1016/j.humimm.2021.02.012
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Since the days of Sanger sequencing, next-generation sequencing technologies have significantly evolved to provide increased data output, efficiencies, and applications. These next generations of technologies can be categorized based on read length. This review provides an overview of these technologies as two paradigms: short-read, or "second-generation," technologies, and long-read, or "third-generation," technologies. Herein, short-read sequencing approaches are represented by the most prevalent technolo-gies, Illumina and Ion Torrent, and long-read sequencing approaches are represented by Pacific Biosciences and Oxford Nanopore technologies. All technologies are reviewed along with reported advan-tages and disadvantages. Until recently, short-read sequencing was thought to provide high accuracy lim-ited by read-length, while long-read technologies afforded much longer read-lengths at the expense of accuracy. Emerging developments for third-generation technologies hold promise for the next wave of sequencing evolution, with the co-existence of longer read lengths and high accuracy. (c) 2021 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.
引用
收藏
页码:801 / 811
页数:11
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