Our research focuses on developing tools for genetic analysis of whole genomes, applying these tools to predict disease risk in patients and elucidate the genetic factors associated with human diseases. In particular, we are pursuing three lines of research in the rapidly evolving fields of “precision medicine” and “genomic medicine. First, we are partnering with collaborators at medical centers across Taiwan and use the “full genome analysis” approach to study patients with rare diseases. “Full genome analysis” combines whole genome sequencing and genome mapping to produce phased and assembled genome sequences for patient diagnosis. Second, we are defining the genomic landscape of the Taiwan population by producing fully assembled genome sequences of several hundred people from across the country. With these high-quality reference genomes, we are establishing the haplotype patterns of the population at every locus across the genome. Third, we are partnering with medical centers across the country in the Taiwan Precision Medicine Initiative to obtain genetic profiles and clinical data of one million people and use the data to build algorithms for disease risk prediction in each individual. Once established, the algorithms can be used for disease risk prediction in all Han Chinese across the world.