Xiang Chen

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 constru...

The potential differential significance of admission metabolic markers CHG, TyG and NHHR indices for cerebral artery dissection

At present, the diagnosis of cerebral artery dissection (CeAD) worldwide still relies on imaging findings, making rapid clinical differentiation in the early stages challenging. Our purpose is to explore the distribution characteristics of the cholesterol, high-density lipoprotei...