The research activities in my laboratory focuses on the structural and functional characterization of human chromosome abnormalities. Molecular methods such as fluorescence in situ hybridization (FISH) mapping, microsatellite allelotyping, and next-generation sequencing have been used. We have performed high through-put chromosome-specific and genome-wide array-based analysis for mapping segmental deletions/duplication and sequencing rearrangement breakpoints. The goals are to identify disease-causing genes or bio-markers of diagnostic and prognostic values, and to dissect underlying molecular mechanisms.