A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region expansions (RREs) from short DNA reads
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Updated
Feb 6, 2025 - Nextflow
A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region expansions (RREs) from short DNA reads
Structural variant benchmark
Supporting material for H3Africa Structural and Copy Number Variant paper: summary data and scripts
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