Whole exon sequencing

Whole exome sequencing technology allows us to efficiently sequence protein coding region of the genome and identify a common or rare coding variants in an individual.

Our lab has been instrumental in putting together a clinical genomics programme starting with high-throughput genetic tests for patients with Inherited Cardiac Conditions (ICC). This has led to an ICC clinic which is run at the National University Heart Centre.

We are also working to apply Clinical Genomics as diagnostics in the Clinical Genetics Departments at NUHkids (with A/Prof Denise Goh) and KK Women’s and Children’s Hospital (with Drs Angeline Lai and Saumya Jamuar).