bioRxivBioinformaticsPreprint
HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of CNV, CNVR and ROH
Jinghang ZhouiD, Liyuan LiuiD, Thomas LopdelliD, Dorian J. GarrickiD, Yuangang ShiiD
Abstract
Here we present an R package for summarizing, annotating, converting, comparing and visualizing CNV (copy number variants) and ROH (runs of homozygosity) detected from SNP (single nucleotide polymorphism) genotyping data. This one-stop post-analysis system is standardized, comprehensive, reproducible, timesaving and user friendly for research in humans and most diploid livestock species. Availability and ImplementationThe source code, demo data and vignettes can be found at https://github.com/JH-Zhou/HandyCNV
- organism: human
- organism: multiple species
- assay: GWAS summary statistics
- research focus: variant calling
- research focus: variant effect prediction
- research focus: software / tool
- approach: statistical model
- Citations
- 3
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