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bio-copy-number-cnv-annotation

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Annotate CNVs with genes, pathways, and clinical significance. Use when interpreting CNV calls or identifying affected genes from copy number analysis.

When to use

• Annotate CNV calls with gene names
• Identify affected genes from copy number analysis
• Assess clinical significance of CNVs
• Flag known cancer-associated genes
• Identify pathogenic ClinVar variants within CNV regions
• Analyze recurrent CNVs using GISTIC2
• Comprehensive annotation using AnnotSV

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