Hi-C 和关联读数的生物信息学应用

Libo Jiang, Michael A Quail, Jack Fraser-Govi, Haipeng Wang, Xuequn Shi, Karen Oliver, Esther Mellado Gomez, Fengtang Yang, Zemin Ning
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摘要

长程测序可以深入了解短读数和现代长读数技术无法获取的额外遗传信息。目前有几种新的测序技术可用于长程数据集,如 "Hi-C "和 "链接读数",具有高通量和高分辨率的基因组分析能力,正在快速推动基因组组装、基因组支架和更全面的变异鉴定领域的发展。在这篇文章中,我们重点介绍了五种主要的长程测序技术:高通量染色体构象捕获(Hi-C)、10倍基因组学关联读数(10x Genomics Linked Reads)、单体标记(haplotagging)、转座酶酶联长读数测序(TELL-seq)和单管长片段读数(stLFR)。我们详细介绍了这五种平台的机制和数据产品,介绍了几种最重要的应用,评估了不同平台的测序数据质量,并讨论了目前可用的生物信息学工具。我们希望这项工作有助于为特定的生物学研究选择合适的长程技术。
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The Bioinformatic Applications of Hi-C and Linked Reads.

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.

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