Ivan F. M. Lo

CNVPipe improves CNV detection in WGS by integrating CNV tools with machine learning, reducing FDR and increasing sensitivity for both bulk and single-cell data.

SENSV detects structural variations with high sensitivity and precise breakpoints using low-depth Oxford Nanopore WGS data from a single MinION flowcell, outperforming existing tools in pathogenic SV detection.

HKG is a variant database of 205 Hong Kong Cantonese exomes that fills a gap in southern Chinese genetics, showing unique variants and improving variant imputation.