Workflow for Sequenza, cellularity and ploidy

群体遗传学分析中用到的script和skill等

CNV analysis based on the depth of coverage of Illumina 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.

An R package for detecting copy number variants from SNPs data

Pre-compiled absolute CNV data, which can be used for package sigminer/VSHunter and CNV analysis

An R package to integrate and analyze CNV calling results from multiple methods in a uniformed and standardized manner

🧬🔍CNV analysis and outcome prediction in Ultra-High-Risk and First Episode Psychosis individuals 🩺🧠

Copy Number Variant Analyzer for Illumina Dragen files. Work in Progress...

Powerful CNV calls filtering pipeline. Focused on fixed loci calling, before visual inspection.