Next-Generation Sequencing in Blood Group Genomics: State of the Art and Perspectives
Next-Generation Sequencing in Blood Group Genomics: State of the Art and Perspectives
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DOI：
10.1159/000505463
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发表时间：
2020-01
影响因子：
2.2
通讯作者：
C. Gassner
中科院分区：
文献类型：
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作者：
C. Gassner
下一代测序（NGS）或第二代测序是用于描述DNA测序的几种高通量技术的总括术语[1，2]。该技术也被称为大规模（或大规模）平行或深度测序，并且与先前使用的第一代桑格测序相比，允许以优惠的价格和基因组大小或超过基因组大小的规模更快地对DNA和RNA进行测序。在过去的十年中，这一发展彻底改变了基因组学和分子生物学的研究[3，4]。在NGS之后不久，第三代测序（TGS）技术以其长单分子测序读数的显著特征出现[5，6]。单个分子上高达数万个碱基对的读取长度，即使使用天然DNA作为直接分析物，也再次将基因组组装推向前所未有的质量。
Next-generation sequencing (NGS), or second-generation sequencing, is the catch-all term used to describe several high-throughput technologies for DNA sequencing [1, 2]. The techniques are also known as massive (or massively) parallel or deep sequencing and allow for sequencing of DNA and RNA much more quickly, at a favorable price, and at scales at or beyond genome sizes in comparison to the previously used first-generation Sanger sequencing. Throughout the last decade, this development revolutionized the study of genomics and molecular biology [3, 4]. Shortly after NGS, third-generation sequencing (TGS) technologies emerged with their distinguished feature of long single-molecule sequencing reads [5, 6]. Read lengths of up to tens of thousands of base pairs on single molecules, even using native DNA as a direct analyte, again pushed genome assemblies to unprecedented quality.