Clinical Genomics
Development of bioinformatics pipelines for rare disease diagnosis and clinical sequencing.
- Variant prioritisation workflows
- ACMG/AMP-based interpretation frameworks
- Integration into clinical reporting systems
Research
My work focuses on translating genomic data into clinically actionable insights across diagnosis, interpretation, and deployment.
Population Genomics
Analysis of large-scale genomic datasets to improve interpretation in Asian populations.
- SG10K and SG100K projects
- Population-specific variant frequencies
- Carrier screening and disease risk estimation
AI and Computational Methods
Automated and language-model assisted systems for more consistent variant interpretation.
- LLM-based literature analysis
- Automated ACMG criteria evaluation
- Phenotype-driven gene prioritisation
Functional Genomics
Resolving uncertain variants through targeted experimental validation strategies.
- Splicing assays (minigene)
- Cellular models
- Multi-omics approaches
Goal
Reduce the gap between sequencing and diagnosis by combining scalable computation, population data, experimental validation, and clinical integration.