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SVhawkeye:一款用于从BAM文件中对靶向结构片段进行用户友好型可视化的超快速软件。

SVhawkeye: an ultra-fast software for user-friendly visualization of targeted structural fragments from BAM files.

作者信息

Xiao Yuhui, Yu Tao, Liang Fan, Hou Tingping

机构信息

The State Key Laboratory of Refractories and Metallurgy, Joint International Research Laboratory of Refractories and Metallurgy, Hubei Province Key Laboratory of Systems Science in Metallurgical Process, International Research Institute for Steel Technology, Collaborative Innovation Center for Advanced Steels, Wuhan University of Science and Technology, Wuhan, China.

School of Optoelectronic Materials and Technology, Jianghan University, Wuhan, China.

出版信息

Front Genet. 2024 Apr 24;15:1352443. doi: 10.3389/fgene.2024.1352443. eCollection 2024.

Abstract

SVhawkeye is a novel visualization software created to rapidly extract essential structural information from third-generation sequencing data, such as data generated by PacBio or Oxford Nanopore Technologies. Its primary focus is on visualizing various structural variations commonly encountered in whole-genome sequencing (WGS) experiments, including deletions, insertions, duplications, inversions, and translocations. Additionally, SVhawkeye has the capability to display isoform structures obtained from iso-seq data and provides interval depth visualization for deducing local copy number variation (CNV). One noteworthy feature of SVhawkeye is its capacity to genotype structural variations, a critical function that enhances the accuracy of structural variant genotyping. SVhawkeye is an open-source software developed using Python and R languages, and it is freely accessible on GitHub (https://github.com/yywan0913/SVhawkeye).

摘要

SVhawkeye是一款新型可视化软件,旨在从第三代测序数据(如PacBio或牛津纳米孔技术产生的数据)中快速提取重要的结构信息。它的主要重点是可视化全基因组测序(WGS)实验中常见的各种结构变异,包括缺失、插入、重复、倒位和易位。此外,SVhawkeye能够显示从iso-seq数据中获得的异构体结构,并提供区间深度可视化以推断局部拷贝数变异(CNV)。SVhawkeye的一个显著特点是其对结构变异进行基因分型的能力,这是一项提高结构变异基因分型准确性的关键功能。SVhawkeye是一款使用Python和R语言开发的开源软件,可在GitHub(https://github.com/yywan0913/SVhawkeye)上免费获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4123/11076833/0c7b0423c658/fgene-15-1352443-g001.jpg

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