Software Packages

Department of Quantitative Health Sciences
Mayo Clinic Research
Formerly known as the Department of Health Sciences Research

Related links: Division Overview R Shiny Applications
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All | Alignment | Assemblers | ChIP | Copy Number Variants | Exome | Mate Pair | Methylation | Microbiome | Pathway Analysis | Proteins | RNA | SNP/SNV | Structural Variants | Visualization | R Packages | SAS Macros | Survival Analysis


Structural Variations (SVs) and Copy Number Variations (CNVs) are the major source of genomic variations. CNVnator is a tool for Copy Number Variation (CNV) discovery and genotyping  from depth-of-coverage by mapped reads.  It accepts .bam files as input and generates CNVs calls in less than 10 hours of calculations. The source code and extended descriptions […]


A versatile tool for detecting copy number changes from exome sequencing data.


Wandy: A program for CNV/Aneuploidy detection from WGS sequencing data   Introduction Wandy is designed for Copy Number Variation (CNV) and Aneuploidy detection from large genomes such as human. It takes a sorted BAM file as input and report predicted chromosome regions that have amplifications or deletions using LOG2 ratio, generate graphic reports. There are […]