Hyunseok Peter Kang

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 resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.

The paper demonstrates that software-assisted manual review of NGS data achieves equivalent accuracy to Sanger sequencing in confirming variant calls for hereditary cancer screening.

This paper validates an expanded carrier screen with high sensitivity and specificity, showing significant improvements in detecting fetal disease risk through CNV calling and challenging conditions.

The paper evaluates methods for designing expanded carrier screening panels and finds that full-exon sequencing outperforms targeted genotyping in detecting affected fetuses.

The paper develops and validates a 36-gene sequencing assay for hereditary cancer risk assessment, showing 100% sensitivity and high specificity across mutation types.