Research

Our lab focuses on developing databases, genome repositories, and clinical applications to interpret personal genomes for clinical diagnosis, precision medicine, predictive disease risk, and novel therapeutics. We have been working on translational bioinformatics and personalized medicine from five directions.

• Build databases, genome repositories, and products to interpret human genomes for clinical diagnosis and precision medicine. Example works are DIVAS in Bioinformatics, ClinLabGeneticist in Genome Medicine, regulatory disease variants in BMC Genomics and featured by Sci. Trans. Med, and Varimed in PLoS One.
• Develop novel methods to predict personal risk of disease through integrating genome sequencing, electronic medical records, and environmental factors. Example works are clinical assessment of human genome in Lancet, genetic risk in family quartet in PLoS Genetics, differentiation of T2D risk alleles in human migration in PLoS Genetics, GxE analysis for T2D in Human Genetics.
• Develop methods to integrate and translate various molecular measurements in the public repositories into biomarkers for the diagnosis of disease. Example works are AILUN to annotate microarray platforms in GEO in Nature Methods , GeneChaser to analyze microarray data in BMC Bioinformatics, identification of compartment-specific targets for renal transplantation in PNAS, and identification of protein biomarkers for cross-organ transplant rejection in PLoS Comput Biol
• Develop integrative genomics methods to discover causal variants and pathways to illustrate the mechanism of human diseases. Examples works are the identification of disease variants through integrative genomic analysis by FitSNPs in Genome Biol, by evolutionary analysis in Mol Biol Evol , by geographic-wide association study in BMC Med Genet, and the functional validation of regulatory variants for renal allograft fibrosis in JCI.
• Build disease networks through comorbidity and shared genetic architecture to inform patient stratification and precision therapy. Example works are identification of risk factors for Alzheimer’s disease (AD) in PSB, risk factors for acute lymphoblastic leukemia, alcohol dependence, venous thromboembolism, lung cancer and gastric cancer in Sci Trans Med, disease co-morbidity network in PSB, and shared genetic etiology underlying AD and T2D in Mol Aspects Med.