bioRxivBioinformaticsPreprint
KmerSV: a visualization and annotation tool for structural variants using Human Pangenome derived k-mers
Abstract
SummaryKmerSV is a visualization and annotation tool for structural variants (SVs). It can be applied to assembly contigs or long-read sequences. Using k-mers it rapidly generates images and provides genome features of SVs. As an important feature, it utilizes the new Human Pangenome reference which provide haploid specific assemblies, addresses limitations in prior references and improves the discovery of SVs. Availability and implementationKmerSV is implemented in Python and available at github.com/sgtc-stanford/kmerSV
- organism: human
- assay: whole-genome sequencing
- research focus: variant calling
- approach: statistical model
- Citations
- 1
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