关键词: data visualization genotyping python and R software structural variations third-generation sequencing whole-genome sequencing

来  源:   DOI:10.3389/fgene.2024.1352443   PDF(Pubmed)

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是一种新颖的可视化软件,旨在从第三代测序数据中快速提取基本结构信息。例如PacBio或牛津纳米孔技术产生的数据。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,包括删除,插入,重复,倒置,和易位。此外,SVhawkeye具有显示从iso-seq数据获得的同工型结构的能力,并提供区间深度可视化以推断局部拷贝数变异(CNV)。SVhawkeye的一个值得注意的特点是它的基因型结构变异的能力,提高结构变异基因分型准确性的关键功能。SVhawkeye是使用Python和R语言开发的开源软件,它可以在GitHub(https://github.com/yywan0913/SVhawkeye)上免费访问。
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