Sean A. Irvine

This study benchmarks CNV callers for WGS clinical applications, finding DRAGEN v4.2 offers the best balance of sensitivity and precision for detecting deletions and some duplications.

The paper develops a reproducible pipeline to integrate sequencing datasets for high-confidence SNP, indel, and reference calls in five human genomes, showing improved variant detection compared to prior methods.

The paper develops a novel algorithm to accurately compare variant call files by addressing representation discrepancies in VCF data, enabling reliable performance benchmarking of variant calling pipelines.