关键词: Genome assembly Hi-C Linked Reads Long-range NGS reads Quality assessment

来  源:   DOI:10.1093/gpbjnl/qzae048

Abstract:
Long-range sequencing grants insight into additional genetic information beyond that which can be accessed by both short reads and modern long-read technology. Several new sequencing technologies are available for long-range datasets such as \"Hi-C\" and \"Linked Reads\" with high-throughput and high-resolution genome analysis, and are rapidly advancing the field of genome assembly, genome scaffolding, and more comprehensive variant identification. In this article, we focused on five major long-range sequencing technologies: high-throughput chromosome conformation capture (Hi-C), 10x Genomics Linked Reads, haplotagging, transposase enzyme linked long-read sequencing (TELL-seq), and single tube long fragment read (stLFR). We detailed the mechanisms and data products of the five platforms, introduced several of the most important applications, evaluated the quality of sequencing data from different platforms, and discussed the currently available bioinformatics tools. We hope this work will benefit the selection of appropriate long-range technology for specific biological studies.
摘要:
远程测序赋予了对其他遗传信息的深入了解,除了可以通过短读和现代长读技术访问的遗传信息之外。一些新的测序技术可用于远程数据集,如“Hi-C”和“关联读取”,具有高通量和高分辨率的基因组分析,并迅速推进基因组组装领域,基因组支架,和更全面的变体识别。在这篇文章中,我们专注于五种主要的远程测序技术:高通量染色体构象捕获(Hi-C),10x基因组学关联阅读,单列标签,转座酶酶连接长读测序(TELL-seq),和单管长片段读数(stLFR)。我们详细介绍了五大平台的机制和数据产品,介绍了几个最重要的应用,评估了来自不同平台的测序数据的质量,并讨论了目前可用的生物信息学工具。我们希望这项工作将有助于为特定的生物学研究选择合适的远程技术。
公众号