- I am interested in genetic studies on both rare and complex diseases. For complex diseases, a major focus is on systemic lupus erythematosus (SLE), a complex autoimmune disease mainly affecting women of reproductive age, through association studies. Other diseases under study include primary immunodeficiency and a number of other single gene disorders, through whole exome sequencing.
- My laboratory is also interested in development of tools to identify rare mutations from recent common founders. Pedigrees are good at identifying mutations on single gene diseases and GWAS is good at identifying common alleles with relatively small effect sizes. However, significant portion of genetic heritability is usually not explained by either of them. Rare alleles with relatively larger effect sizes may have substantial contribution to disease susceptibility, and some of these rare alleles may derive from recent common ancestors. The haplotypes on which they reside can be detected through a population-based linkage study. Two algorithms developed in our lab, HRRA and HaploShare, are designed to find shared haplotypes among patients from a common recent ancestor.
Genomic data analysis:
- I am also interested in genomic data analysis, especially in mining high-throughput data such as RNA-seq, whole exome and whole genome sequencing. Interdisciplinary research is necessity to extract meaningful information from an overwhelming amount and often noisy high-throughput biology data. Thus we welcome students from relevant backgrounds, such computation, statistics, medicine and biology to join our lab to tackle these problems together. Tools we developed include EFIN and PriVar for mutation evaluation and whole exome sequencing data analysis.
Clinical and public health application of Genomics:
- Genomics is rapidly moving from research to application, including genetic screening, clinical diagnosis, prenatal diagnosis and population screening. We are keen to study the issues in genomic application, such as amplicon sequencing by NGS platforms, HLA typing through sequencing, building population genetic databases, and screening recessive and x-linked mutations in a given population.