The Bioinformatic Applications of Hi-C and Linked Reads  

作　　者：Libo Jiang Michael A.Quail Jack Fraser-Govil Haipeng Wang Xuequn Shi Karen Oliver Esther Mellado Gomez Fengtang Yang Zemin Ning 

机构地区：[1]School of Life Sciences and Medicine,Shandong University of Technology,Zibo 255049,China [2]The Wellcome Sanger Institute,Wellcome Genome Campus,Hinxton,Cambridge CB101SA,UK [3]College of Food Science and Technology,Hainan University,Haikou 570228,China

出　　处：《Genomics, Proteomics & Bioinformatics》2024年第4期11-30,共20页基因组蛋白质组与生物信息学报（英文版）

基　　金：supported by from the National Natural Science Foundation of China(Grant No.32070601);the Natural Science Fund for Excellent Young Scholars of Shandong Province,China(Grant No.ZR2022YQ23);supported by the Wellcome Trust,UK(Grant No.WT206194).

摘　　要：Long-range sequencing grants insight into additional genetic information beyond what can be accessed by both short reads and modern longread technology.Several new sequencing technologies,such as“Hi-C”and“Linked Reads”,produce long-range datasets for high-throughput and high-resolution genome analyses,which are rapidly advancing the field of genome assembly,genome scaffolding,and more comprehensive variant identification.In this review,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 singletube long fragment read(stLFR).We detailed the mechanisms and data products of the five platforms and their important applications,evaluated the quality of sequencing data from different platforms,and discussed the currently available bioinformatics tools.This work will benefit the selection of appropriate long-range technology for specific biological studies.

关 键 词：Long-range NGS reads Hi-C Linked Reads Genome assembly Quality assessment. 

分 类 号：Q811.4[生物学—生物工程]