KmerSV: a visualization and annotation tool for structural variants using Human Pangenome derived k-mers
Year: 2023
Type: preprint
Abstract: Summary KmerSV 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 implementation KmerSV is implemented in Python and available at github.com/sgtc-stanford/kmerSV
Authors: Qingxi Meng, Hanlee P. Ji, HoJoon Lee
Institutions: Stanford Medicine, Stanford University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funder: National Institutes of Health
OpenAlex ID: W4387670997