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Author

Xiang Chen

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Open access Oct 2026

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...

Xiang Chen · 0 citations
Open access Sep 2026

Comprehensive evaluation of structural variation detection for germline and somatic analysis with long-read sequencing data

Abstract Detecting structural variations (SVs) via long-read sequencing remains difficult due to algorithmic variations and genomic complexity, alongside a shortage of comprehensive benchmarks for somatic variants. We present a unified benchmarking framework covering both germline and somatic SV detection, which evalua...

Hua Shi, Yi-Hang Lin, Da-Chen Liu et al. · 0 citations

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