Ho‐Ming Luk

Bone2Gene uses deep learning to classify rare bone diseases from hand radiographs, achieving high accuracy for distinct disorders but lower for overlapping ones.

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.

The paper reclassifies a variant of uncertain significance as likely pathogenic in Mowat-Wilson syndrome using next-generation phenotyping and multimodal data integration.

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.