My research interest is centered on the development of new methodologies for the diagnosis of human genetic diseases and understanding their underlying molecular mechanism. In the past, I developed new clinical molecular or biochemical tests including population-based carrier screening, assays for in-born error metabolism, personalized medicine test for chronic kidney disease, and various diagnostic tests using next-generation sequencing. My recent research has been focused on the development of new methods on non-invasive prenatal screening (NIPS) for genetic disorders caused by different molecular etiologies such as aneuploidies, microdeletions, and single-gene diseases.