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Florian Bénitìere

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Open access Sep 2026

gVCF2CNV: a scalable pipeline for CNV detection from whole-genome sequencing data

Motivation Copy-number variants (CNVs) contribute to human disease and population trait variation. CNV detection from large whole-genome sequencing cohorts remains computationally demanding, as most methods require BAM or CRAM files. Genomic VCF (gVCF) files are smaller, routinely generated by standard variant-calling...

Mame Seynabou Diop, Florian Bénitìere, Kuldeep Kumar et al. · 0 citations

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