Protocol for detecting germline copy number variants from whole-exome sequencing using agent-assisted Snakemake workflows.
Germline copy number variants (gCNVs) are vital for diagnosing rare monogenic disorders. Here, we present a containerized, agent-assisted Snakemake protocol for detecting, annotating, and visualizing gCNVs from short-read whole-exome sequencing data. We describe steps for constructing baseline models, executing CNV cal...