Clinical Genomics Implementation
Built and deployed bioinformatics pipelines supporting rare disease diagnosis and national genomic programs.
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Weng Khong Lim, PhD
- Associate Professor, Duke-NUS Medical School
- Principal Scientist, Genome Institute of Singapore
- Director of Bioinformatics, Genomic Medicine Centre (SingHealth Duke-NUS)
I develop computational methods and clinical workflows to translate genome sequencing into actionable diagnoses.
Work spans clinical genomics, SG10K/SG100K-scale population sequencing, AI-assisted variant interpretation, and functional validation of uncertain variants.
Key Contributions
Population Genomics (SG10K / SG100K)
Led analysis of large-scale Asian genome datasets to improve variant interpretation and disease risk prediction.
AI for Variant Interpretation
Developing automated frameworks to prioritise and interpret variants of uncertain significance (VUS) using computational and language models.
Translational Impact
Focus on closing the gap between sequencing and diagnosis, particularly in rare disease and clinical genetics.
Selected Work
- Nature Communications (2022) — clinically relevant variants in 9,051 Asian genomes
- Nature Genetics (2026) — translating genomic data into healthcare practice (SG100K)
- American Journal of Human Genetics (2026) — bi-allelic TMEM63B loss-of-function surfactant disorder
- European Journal of Human Genetics (2025) — diagnostic yield in inherited retinal disease
- Development of automated ACMG variant interpretation frameworks.
- Clinical bioinformatics pipelines supporting rare disease diagnostics.
- Functional genomics approaches for resolving uncertain variants.
Current Focus
- AI-assisted variant prioritisation and interpretation
- Integration of population genomics into clinical workflows
- Functionalisation of variants of uncertain significance
- Scaling genomic medicine in healthcare systems