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生物信息学分析中用到的脚本
An R package for detecting copy number variants from SNPs data
VizCNV is an interactive tool designed to analyze and visualize CNVs from short read WGS data in rare disease research. Built on R Studio Shiny, it streamlines the identification of complex genomic rearrangements and facilitates advancements in understanding and diagnosing rare genetic conditions.
Pre-compiled absolute CNV data, which can be used for package sigminer/VSHunter and CNV analysis
Copy Number Variant Analyzer for Illumina Dragen files. Work in Progress...
Powerful CNV calls filtering pipeline. Focused on fixed loci calling, before visual inspection.