Research
Our research spans the following key areas:
Human Genetics
Cancer Genetics
Pharmacogenomics
Bioinformatics & AI
Research Areas of Interest
Gene Discovery
Novel Gene Discovery and Understanding of Gene Functions in Human Diseases
Identifying novel disease-associated genes and elucidating their biological functions to advance the understanding of human diseases.
Variant Interpretation
Variant Interpretation Tools
Developing bioinformatics tools to improve the accuracy of genomic variant interpretation by integrating population genetics, in silico prediction, and experimental evidence.
Long-read Sequencing
Clinical Application of Long-read Sequencing Technologies
Translating nanopore and HiFi long-read sequencing technologies into clinical practice to improve genomic variant detection and increase diagnostic yield.
Our research focuses on uncovering disease mechanisms to advance healthcare and treatment, leveraging genetic and genomic tools as well as bioinformatics approaches for precision medicine.
Ongoing projects