• Disease Genomics

    I analyze human DNAs. I study the origin of DNA mutations that have separated us from other primates as well as archaic humans (e.g. Neanderthals), and also develop machine-learning frameworks to predict, prevent and interpret complex human diseases from personal genomes and individual lifestyles.

  • From the genome, beyond the genome

    Personal Genomes + Clinical Records + Individual Lifestyles + Emerging Technologies


  • Research Projects

    Abdominal Aortic Aneurysm

    We developed a machine-learning framework to integrate personal genomes and electronic health records, and demonstrated the interplay between personal genome baselines and individual lifestyles underlying the development of abdominal aortic aneurysm, a prevalent cardiovascular disease affecting ~9% of the aged population.


    Li, J., et al. 2018, Cell, accepted


    Preterm Birth

    Preterm birth (PTB) is the leading cause of neonatal mortality. My study showed population differentiation on a critical pregnancy-associated gene, the progesterone receptor (PGR), which leads to population-specific traits in pregnancy and parturition. Importantly, deleterious alleles of this gene were originally from Neanderthals. Yes, Neanderthals!


    Li, J. et al. 2018, AJHG

    Autism Spectrum Disorders

    Autism is hallmarked by extreme locus heterogeneity. My study introduced a systems biology approach to identify genes in this disease. We showed that the seemingly heterogeneous mutations in fact converge onto common pathways. Our analysis revealed the corpus callous as a potential tissue of origin in autism.


    Li, J. et al. 2014, Mol. Syst. Biol.

  • Break Boundaries: Medicine in the Future

    Data driven, technology driven, and demand driven

    If we can measure every single parameter in our genetics and physiology, can we achieve precise diagnosis and treatment ?


    We need better technologies, smart algorithms, and closer collaboration with clinicians. Driven by data, many complex diseases will be re-defined, and will be solved.