Research

Our research spans the following key areas:

• Human Genetics
• Cancer Genetics
• Pharmacogenomics
• Bioinformatics & Artificial Intelligence

Research Area of Interest

• 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 Tools
  Developing bioinformatics tools to improve the accuracy of genomic variant interpretation by integrating population genetics, in silico prediction, and experimental evidence.

• 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.