Benjamin Clark

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...