Hu Taishan, Chitnis Nilesh, Monos Dimitri, Dinh Anh
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Surgery, Baylor College of Medicine, Houston, TX, United States.
Hum Immunol. 2021 Nov;82(11):801-811. doi: 10.1016/j.humimm.2021.02.012. Epub 2021 Mar 19.
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 technologies, 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 advantages and disadvantages. Until recently, short-read sequencing was thought to provide high accuracy limited 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.
自从桑格测序时代以来，下一代测序技术已经有了显著发展，能够提供更多的数据输出、更高的效率以及更多的应用。这些下一代技术可以根据读长进行分类。本综述将这些技术概述为两种模式：短读长或“第二代”技术，以及长读长或“第三代”技术。在此，短读长测序方法以最流行的技术Illumina和Ion Torrent为代表，长读长测序方法以太平洋生物科学公司（Pacific Biosciences）和牛津纳米孔技术为代表。所有技术都将连同已报道的优缺点进行综述。直到最近，短读长测序被认为能够提供受读长限制的高精度，而长读长技术则以准确性为代价提供长得多的读长。第三代技术的新发展有望推动下一波测序技术的进化，实现更长读长和高精度并存。
