Hongyun Zhang

The paper develops tumor DNA reference materials with CNV and SNV properties for EGFR, HER2, MET, PIK3CA, KRAS, BRAF, and NRAS, validated for stability, homogeneity, and commutability.

This study compares two cfDNA library construction methods for targeted genome and methylation sequencing, finding dsLib better for mutation detection and ssLib better for methylation analysis.

This study evaluates the sensitivity and coverage of clinical whole-genome sequencing (WGS) for detecting genetic variants, finding that 40X mean depth achieves high sensitivity for SNVs and indels but not 100%.

Cancer SIGVAR is a tool for interpreting germline cancer variants using 21 and 48 criteria, achieving high consistency in classification across benchmark databases.

This study reports two cases of maternal malignancies detected incidentally during noninvasive prenatal tests in Asian women, showing concordant genome disruption patterns between tumor samples and NIPT results.