Structural variant toolkit for VCFs
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Updated
Mar 21, 2026 - Python
Structural variant toolkit for VCFs
Structural variant VCF annotation, duplicate removal and comparison
Pangenome structural variation (SV) merging and deduplication
A novel tool for accurately merging haplotype-based SV calls and comparing SVs across reference genomes
The nf-multicaller-exomecnv workflow enables the calling of CNVs using CANOES, CLAMMS, CNVkit, Illumina's DRAGEN Germline Enrichment, GATK-gCNV and INDELIBLE, with SV merging using Truvari or SURVIVOR, and in silico Validation via an XGBoost Classifier
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