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HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of CNV, CNVR and ROH

Zhou, J.; Liu, L.; Lopdell, T. J.; Garrick, D.; Shi, Y.

2021-04-06 bioinformatics
10.1101/2021.04.05.438403 bioRxiv
Show 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

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